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 ARMC3 219681 broad.mit.edu 37 10 23326295 23326295 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr10:23326295G>A ENST00000298032.5 + 19 2590 c.2506G>A c.(2506-2508)Gga>Aga p.G836R ARMC3_ENST00000409983.3_Missense_Mutation_p.G829R|ARMC3_ENST00000376528.4_Missense_Mutation_p.G573R NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 836 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTCTCGGAAGGGAGTGATTGG 0.527000 14 25 0 0 1.49906e-05 0 0 ITPR3 3710 broad.mit.edu 37 6 33639958 33639958 + Missense_Mutation SNP G G T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr6:33639958G>T ENST00000374316.5 + 23 3941 c.2881G>T c.(2881-2883)Gac>Tac p.D961Y ITPR3_ENST00000605930.1_Missense_Mutation_p.D961Y Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 961 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGAGAATGAGGACATTGTGGT 0.592000 17 91 5.26018e-13 5.08255e-11 2.27731e-05 1 0 DEF6 50619 broad.mit.edu 37 6 35289033 35289033 + Missense_Mutation SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr6:35289033C>T ENST00000316637.5 + 11 1747 c.1742C>T c.(1741-1743)tCc>tTc p.S581F DEF6_ENST00000542066.1_Missense_Mutation_p.S326F NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 581 cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 CGTGACTCCTCCCTAAAGCGC 0.617000 39 149 0 0 5.1965e-05 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564441 140564441 + Silent SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr5:140564441G>A ENST00000361016.2 + 1 3462 c.2307G>A c.(2305-2307)ccG>ccA p.P769P NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 769 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTGAAGCCGATTATCCCCA 0.458000 17 47 0 0 5.01169e-05 0 0 KCNS2 3788 broad.mit.edu 37 8 99441459 99441459 + Missense_Mutation SNP C C T rs149723156 TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr8:99441459C>T ENST00000287042.4 + 2 1602 c.1252C>T c.(1252-1254)Cgg>Tgg p.R418W KCNS2_ENST00000521839.1_Missense_Mutation_p.R418W NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 418 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CCACTTTTACCGGCGCCAAAA 0.517000 28 214 0 0 0.000147802 0 0 TTPAL 79183 broad.mit.edu 37 20 43115234 43115234 + Splice_Site SNP A A G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr20:43115234A>G ENST00000372904.3 + 5 782 c.e5-1 TTPAL_ENST00000262605.4_Splice_Site|TTPAL_ENST00000372906.2_Intron NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 TTTCCCACACAGGATGGTTTC 0.423000 25 49 0 0 0.000147802 0 0 TECTA 7007 broad.mit.edu 37 11 121031078 121031078 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr11:121031078G>A ENST00000392793.1 + 15 5195 c.4924G>A c.(4924-4926)Gta>Ata p.V1642I TECTA_ENST00000264037.2_Missense_Mutation_p.V1642I O75443 TECTA_HUMAN tectorin alpha 1642 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GAAGCCGGTGGTAAGCAGCGT 0.552000 45 72 0 0 0.000147903 0 0 TTN 7273 broad.mit.edu 37 2 179480121 179480121 + Missense_Mutation SNP C C G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:179480121C>G ENST00000589042.1 - 259 48775 c.48551G>C c.(48550-48552)gGt>gCt p.G16184A TTN_ENST00000460472.2_Missense_Mutation_p.G7119A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7244A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7311A|TTN_ENST00000591111.1_Missense_Mutation_p.G14543A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G13616A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14543 Fibronectin type-III 17. 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) GATGCGTGAACCACCATCATT 0.413000 118 113 0 0 0.000147903 0 0 NRAS 4893 broad.mit.edu 37 1 115258748 115258748 + Missense_Mutation SNP C C G rs121913250 TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr1:115258748C>G ENST00000369535.4 - 2 287 c.34G>C c.(34-36)Ggt>Cgt p.G12R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 12 G -> C (in leukemia). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.G12S(133)|p.G12C(81)|p.G12R(18)|p.G12N(2)|p.G12P(1)|p.G12Y(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAACACCACCTGCTCCAACC 0.493000 G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 98 32 0 0 0.000147903 0 0 MT2A 4502 broad.mit.edu 37 16 56643177 56643177 + Missense_Mutation SNP T T C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr16:56643177T>C ENST00000245185.5 + 3 554 c.97T>C c.(97-99)Tgc>Cgc p.C33R MT2A_ENST00000561491.1_3'UTR|MT2A_ENST00000563985.1_3'UTR NM_005953.3 NP_005944.1 P02795 MT2_HUMAN metallothionein 2A 33 Alpha. cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway metal ion binding|protein binding breast(1)|endometrium(1)|lung(1) 3 GCCCCCAGGCTGCTGCTCCTG 0.602000 10 34 0 0 3.86212e-05 0 0 GDF3 9573 broad.mit.edu 37 12 7848184 7848184 + Silent SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr12:7848184C>T ENST00000329913.3 - 1 188 c.141G>A c.(139-141)gtG>gtA p.V47V NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 47 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AGATATAAGGCACAGGTTGGA 0.507000 15 64 0 0 2.31682e-05 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762797 92762797 + Missense_Mutation SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr7:92762797C>T ENST00000318238.4 - 5 3704 c.2488G>A c.(2488-2490)Gaa>Aaa p.E830K SAMD9L_ENST00000437805.1_Missense_Mutation_p.E830K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E830K NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 830 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AATGTTTTTTCATATCGCAAA 0.363000 24 123 0 0 3.10358e-05 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 5 54 0 0 1.23904e-05 0 0 FANCD2 2177 broad.mit.edu 37 3 10081425 10081425 + Missense_Mutation SNP G G C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr3:10081425G>C ENST00000287647.3 + 9 684 c.591G>C c.(589-591)atG>atC p.M197I FANCD2_ENST00000383807.1_Missense_Mutation_p.M197I|FANCD2_ENST00000431693.1_Missense_Mutation_p.M197I|FANCD2_ENST00000419585.1_Missense_Mutation_p.M197I|FANCD2_ENST00000383806.1_Missense_Mutation_p.M197I|FANCD2_ENST00000438741.1_3'UTR NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 197 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CCAAGATCATGCAGCTGATCA 0.488000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 16 47 0 0 5.01169e-05 0 0 CFLAR 8837 broad.mit.edu 37 2 201997825 201997825 + Missense_Mutation SNP T T G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:201997825T>G ENST00000395148.2 + 3 567 c.355T>G c.(355-357)Tac>Gac p.Y119D CFLAR_ENST00000479953.2_Missense_Mutation_p.Y23D|CFLAR_ENST00000443227.1_Missense_Mutation_p.Y23D|CFLAR_ENST00000355558.4_Missense_Mutation_p.Y119D|CFLAR_ENST00000309955.2_Missense_Mutation_p.Y119D|CFLAR_ENST00000341222.6_Missense_Mutation_p.Y119D|CFLAR_ENST00000340870.5_Missense_Mutation_p.Y119D|CFLAR_ENST00000457277.1_Missense_Mutation_p.Y119D|CFLAR_ENST00000423241.2_Missense_Mutation_p.Y119D|CFLAR_ENST00000341582.6_Missense_Mutation_p.Y119D|CFLAR_ENST00000440180.1_Missense_Mutation_p.Y119D|CFLAR_ENST00000342795.5_Missense_Mutation_p.Y119D|CFLAR_ENST00000494258.1_Missense_Mutation_p.Y23D O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 119 DED 2.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 CATGAAGGATTACATGGGCCG 0.438000 5 30 0 0 3.59834e-05 0 0 EPC2 26122 broad.mit.edu 37 2 149528378 149528378 + Silent SNP T T G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:149528378T>G ENST00000258484.6 + 9 1282 c.1248T>G c.(1246-1248)gcT>gcG p.A416A NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 416 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) TGGACCAAGCTAACCATTCAT 0.353000 19 66 0 0 1.64113e-05 0 0 ADHFE1 137872 broad.mit.edu 37 8 67372548 67372548 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr8:67372548G>A ENST00000396623.3 + 13 1199 c.1168G>A c.(1168-1170)Gac>Aac p.D390N ADHFE1_ENST00000415254.1_Missense_Mutation_p.D342N|ADHFE1_ENST00000496501.1_3'UTR|C8orf46_ENST00000482608.2_3'UTR NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 390 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TCTAGGAGCCGACACCCGCAC 0.527000 OREG0018808 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 203 0 0 4.16121e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 63 0 0 1.23904e-05 0 0 COPA 1314 broad.mit.edu 37 1 160281719 160281719 + Silent SNP G G T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr1:160281719G>T ENST00000241704.7 - 11 1244 c.1015C>A c.(1015-1017)Cga>Aga p.R339R COPA_ENST00000368069.3_Silent_p.R339R NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 339 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGTAAGAATCGGTCCTTGACA 0.488000 5 65 8.12818e-05 0.00732305 8.12818e-05 1 0 UBE2M 9040 broad.mit.edu 37 19 59067503 59067503 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr19:59067503G>A ENST00000253023.3 - 6 1083 c.505C>T c.(505-507)Cgg>Tgg p.R169W NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 169 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TAGCCACCCCGCATGGAGCGC 0.642000 13 49 0 0 2.31682e-05 0 0 SLC6A5 9152 broad.mit.edu 37 11 20629080 20629080 + Silent SNP G G T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr11:20629080G>T ENST00000525748.1 + 5 1140 c.867G>T c.(865-867)gtG>gtT p.V289V NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 289 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) ACTACAATGTGATTATTTGCT 0.438000 55 63 3.36121e-32 3.39533e-30 0.000147903 1 0 COL11A2 1302 broad.mit.edu 37 6 33146878 33146878 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr6:33146878G>A ENST00000341947.2 - 16 1810 c.1583C>T c.(1582-1584)aCa>aTa p.T528I COL11A2_ENST00000357486.1_Missense_Mutation_p.T507I|COL11A2_ENST00000374714.1_Missense_Mutation_p.T502I|COL11A2_ENST00000374713.1_Missense_Mutation_p.T481I|COL11A2_ENST00000374712.1_Missense_Mutation_p.T447I|COL11A2_ENST00000361917.1_Missense_Mutation_p.T421I|COL11A2_ENST00000374708.4_Missense_Mutation_p.T442I|COL11A2_ENST00000395197.1_Missense_Mutation_p.T468I NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 528 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 AGGAGGGCCTGTGAGGCCCTG 0.657000 7 35 0 0 5.18039e-06 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 44 0 0 1.23904e-05 0 0 TRIM9 114088 broad.mit.edu 37 14 51446212 51446212 + Missense_Mutation SNP T T C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr14:51446212T>C ENST00000298355.3 - 9 3084 c.1963A>G c.(1963-1965)Aga>Gga p.R655G TRIM9_ENST00000338969.5_Missense_Mutation_p.R736G NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 655 B30.2/SPRY. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) AAGTTTTTTCTATTTAAGTCG 0.448000 42 107 0 0 0.000147903 0 0 TRIM28 10155 broad.mit.edu 37 19 59060419 59060419 + Missense_Mutation SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr19:59060419C>T ENST00000253024.5 + 12 1763 c.1474C>T c.(1474-1476)Cgc>Tgc p.R492C TRIM28_ENST00000341753.6_Missense_Mutation_p.R410C NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 492 HP1 box. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GAGCCTTGAACGCCTGGACCT 0.582000 21 26 0 0 3.10358e-05 0 0 NME8 51314 broad.mit.edu 37 7 37924779 37924779 + Missense_Mutation SNP A A G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr7:37924779A>G ENST00000199447.4 + 14 1544 c.1172A>G c.(1171-1173)gAc>gGc p.D391G EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.D391G NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 391 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity TTATTGAGAGACAATGGCTTG 0.378000 8 35 0 0 2.17888e-05 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102995935 102995935 + Missense_Mutation SNP T T C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr11:102995935T>C ENST00000375735.2 + 12 1912 c.1768T>C c.(1768-1770)Tct>Cct p.S590P DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S590P|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.S590P NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 590 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TCGTCAGCTCTCTGCACTTGG 0.363000 12 22 0 0 1.49906e-05 0 0 AP4B1 10717 broad.mit.edu 37 1 114438597 114438597 + Missense_Mutation SNP C C A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr1:114438597C>A ENST00000369569.1 - 9 1854 c.1574G>T c.(1573-1575)gGc>gTc p.G525V AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.G357V|AP4B1_ENST00000256658.4_Missense_Mutation_p.G525V NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 525 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCATCAATGCCAACTAAGAG 0.448000 33 17 4.4194e-11 4.20917e-09 7.24521e-05 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140724807 140724807 + Missense_Mutation SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr5:140724807C>T ENST00000253812.6 + 1 1207 c.1207C>T c.(1207-1209)Cgc>Tgc p.R403C PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAATATTACCGCTTAGTGAC 0.468000 20 44 0 0 1.64113e-05 0 0 CDCA3 83461 broad.mit.edu 37 12 6958754 6958754 + Silent SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr12:6958754C>T ENST00000422785.3 - 4 623 c.519G>A c.(517-519)agG>agA p.R173R CDCA3_ENST00000229265.6_Silent_p.R148R|CDCA3_ENST00000538862.2_Silent_p.R173R|CDCA3_ENST00000540683.1_Silent_p.R173R|CDCA3_ENST00000535406.1_Silent_p.R173R Q99618 CDCA3_HUMAN cell division cycle associated 3 173 cell division|mitosis cytosol breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1) 8 TCTCAGGGTCCCTTGAGGGCT 0.517000 47 298 0 0 0.000147903 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 9 62 0 0 1.12685e-05 0 0 WFDC8 90199 broad.mit.edu 37 20 44184401 44184401 + Silent SNP G G A rs150100809 byFrequency TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr20:44184401G>A ENST00000357199.4 - 4 462 c.384C>T c.(382-384)tgC>tgT p.C128C WFDC8_ENST00000289953.2_Silent_p.C128C NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 128 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) CATTCCCTTCGCAGCCCCTGT 0.468000 27 100 0 0 3.70037e-05 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 5 43 0 0 8.12818e-05 0 0 ZNF669 79862 broad.mit.edu 37 1 247264377 247264377 + Missense_Mutation SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr1:247264377C>T ENST00000343381.6 - 4 866 c.694G>A c.(694-696)Gtt>Att p.V232I ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.V146I|ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000366500.1_3'UTR NM_024804.2 NP_079080.2 Q96BR6 ZN669_HUMAN zinc finger protein 669 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6) 17 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GGAACAGAAACGAAGAATTTC 0.378000 130 11 0 0 0.000147903 0 0 CDK5 1020 broad.mit.edu 37 7 150752177 150752177 + Missense_Mutation SNP G G C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr7:150752177G>C ENST00000485972.1 - 9 1268 c.587C>G c.(586-588)gCc>gGc p.A196G CDK5_ENST00000297518.4_Missense_Mutation_p.A164G NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 196 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) CCCAGCATTGGCCAGCTCTGG 0.582000 14 52 0 0 3.45872e-05 0 0 ZFP41 286128 broad.mit.edu 37 8 144332324 144332324 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr8:144332324G>A ENST00000330701.4 + 2 680 c.311G>A c.(310-312)cGc>cAc p.R104H ZFP41_ENST00000520584.1_Missense_Mutation_p.R104H|ZFP41_ENST00000522452.1_Missense_Mutation_p.R104H NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 104 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GACCACATTCGCCATCAGAGG 0.547000 16 150 0 0 5.01169e-05 0 0 MAFB 9935 broad.mit.edu 37 20 39317284 39317284 + Silent SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr20:39317284C>T ENST00000373313.2 - 1 596 c.207G>A c.(205-207)tcG>tcA p.S69S MAFB_ENST00000396967.1_Silent_p.S69S NM_005461.3 NP_005452.2 Q9Y5Q3 MAFB_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 69 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) AGCTGGGCGACGAGGGCACGG 0.667000 T IGH@ MM 32 76 0 0 0.000109025 0 0 MARCH7 64844 broad.mit.edu 37 2 160604709 160604709 + Missense_Mutation SNP C C A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:160604709C>A ENST00000259050.3 + 5 1030 c.908C>A c.(907-909)tCc>tAc p.S303Y MARCH7_ENST00000539065.1_Missense_Mutation_p.S247Y|MARCH7_ENST00000409175.1_Missense_Mutation_p.S303Y|MARCH7_ENST00000409591.1_Missense_Mutation_p.S265Y NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 303 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AGTCAGGATTCCTTGAATACA 0.403000 18 53 2.39187e-15 2.34509e-13 0.000132079 1 0 ST18 9705 broad.mit.edu 37 8 53077718 53077718 + Missense_Mutation SNP G G T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr8:53077718G>T ENST00000276480.7 - 12 1955 c.1272C>A c.(1270-1272)aaC>aaA p.N424K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 424 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGCGGTTGCTGTTCACATGAC 0.403000 60 427 2.67592e-24 2.66274e-22 0.000147903 1 0 HIGD1C 613227 broad.mit.edu 37 12 51347824 51347824 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr12:51347824C>T ENST00000398455.3 + 1 120 c.43C>T c.(43-45)Caa>Taa p.Q15* NM_001109619.1 NP_001103089.1 A8MV81 HIG1C_HUMAN HIG1 hypoxia inducible domain family, member 1C 15 HIG1. integral to membrane lung(1) 1 GGATGAAGGCCAATTATCCCG 0.378000 54 205 0 0 0.000147903 0 0 SULF2 55959 broad.mit.edu 37 20 46318883 46318883 + Missense_Mutation SNP C C T rs142401598 TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr20:46318883C>T ENST00000359930.4 - 5 1575 c.724G>A c.(724-726)Gca>Aca p.A242T SULF2_ENST00000467815.1_Missense_Mutation_p.A242T|SULF2_ENST00000361612.4_Missense_Mutation_p.A242T|SULF2_ENST00000484875.1_Missense_Mutation_p.A242T NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 242 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 TGCTGAGATGCGTTTGGGAAG 0.572000 10 56 0 0 2.17888e-05 0 0 MITD1 129531 broad.mit.edu 37 2 99785865 99785865 + Missense_Mutation SNP A A T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:99785865A>T ENST00000289359.2 - 7 799 c.723T>A c.(721-723)ttT>ttA p.F241L MRPL30_ENST00000410042.1_Intron NM_138798.1 NP_620153.1 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, domain containing 1 241 protein transport late endosome membrane large_intestine(3)|lung(2)|ovary(1) 6 GCTTCTTATGAAAAATGTCTA 0.274000 11 45 0 0 6.40141e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 10 99 0 0 9.31168e-06 0 0 RNF2 6045 broad.mit.edu 37 1 185062302 185062302 + Missense_Mutation SNP T T C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr1:185062302T>C ENST00000367510.3 + 4 646 c.358T>C c.(358-360)Tat>Cat p.Y120H RNF2_ENST00000367509.4_Intron NM_007212.3 NP_009143.1 Q99496 RING2_HUMAN ring finger protein 2 120 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2) 14 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) TCGTGATGAGTATGAAGCTCA 0.423000 27 32 0 0 2.25844e-05 0 0 MYH8 4626 broad.mit.edu 37 17 10318882 10318882 + Silent SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr17:10318882G>A ENST00000403437.2 - 7 649 c.555C>T c.(553-555)gcC>gcT p.A185A CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 185 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CAGTCTTTCCGGCACCAGATT 0.438000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 5 96 0 0 5.18039e-06 0 0 SMC1A 8243 broad.mit.edu 37 X 53438820 53438820 + Missense_Mutation SNP G G C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chrX:53438820G>C ENST00000322213.4 - 7 1272 c.1145C>G c.(1144-1146)gCc>gGc p.A382G SMC1A_ENST00000375340.6_Missense_Mutation_p.A148G NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 382 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 TCTCTTGCTGGCTTCTTCTTT 0.527000 15 3 0 0 1.49906e-05 0 0 LYG2 254773 broad.mit.edu 37 2 99861803 99861803 + Silent SNP G G T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:99861803G>T ENST00000409679.1 - 4 447 c.303C>A c.(301-303)atC>atA p.I101I LYG2_ENST00000409238.1_Silent_p.I101I|LYG2_ENST00000333017.2_Silent_p.I101I Q86SG7 LYG2_HUMAN lysozyme G-like 2 101 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 CCCTGGAGATGATGGCTGCGA 0.498000 15 66 6.31663e-08 5.7689e-06 2.31682e-05 1 0 SLC6A7 6534 broad.mit.edu 37 5 149581914 149581914 + Missense_Mutation SNP G G C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr5:149581914G>C ENST00000230671.2 + 7 1234 c.863G>C c.(862-864)tGg>tCg p.W288S SLC6A7_ENST00000524041.1_Missense_Mutation_p.W288S NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 288 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GCACAGGTGTGGATTGAAGCT 0.547000 33 77 0 0 0.000132358 0 0 FRG1B 284802 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 5 87 0 0 5.18039e-06 0 0 ZNF2 7549 broad.mit.edu 37 2 95846850 95846850 + Missense_Mutation SNP T T A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:95846850T>A ENST00000398107.2 + 4 673 c.151T>A c.(151-153)Tgg>Agg p.W51R ZNF2_ENST00000295210.6_Missense_Mutation_p.W55R|ZNF2_ENST00000340539.5_Missense_Mutation_p.W93R|ZNF2_ENST00000453539.2_Missense_Mutation_p.W106R|ZNF2_ENST00000425369.1_Missense_Mutation_p.W13R NM_001017396.1 NP_001017396.1 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) TGTTCCAGACTGGGAAACTAA 0.408000 22 72 0 0 2.27731e-05 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767823 77767823 + Missense_Mutation SNP C C G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr8:77767823C>G ENST00000521891.2 + 10 9114 c.8666C>G c.(8665-8667)aCa>aGa p.T2889R ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2844R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2863R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2844R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2844 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTTTACATCACAGATGACCCG 0.502000 HNSCC(33;0.089) 11 95 0 0 3.86212e-05 0 0 ZNF777 27153 broad.mit.edu 37 7 149128939 149128939 + Nonsense_Mutation SNP G G T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr7:149128939G>T ENST00000247930.4 - 6 2747 c.2424C>A c.(2422-2424)tgC>tgA p.C808* NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CGCAGTGCGTGCAGGGGTAGG 0.721000 8 27 2.74318e-10 2.57588e-08 2.17888e-05 1 0 FAM208B 54906 broad.mit.edu 37 10 5788339 5788339 + Silent SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr10:5788339C>T ENST00000328090.5 + 15 3580 c.2955C>T c.(2953-2955)ggC>ggT p.G985G NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 985 ATGGGCCTGGCAGTCAGCCAG 0.468000 27 34 0 0 0.000147802 0 0 SLC45A3 85414 broad.mit.edu 37 1 205632106 205632106 + Silent SNP C C G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr1:205632106C>G ENST00000367145.3 - 3 1108 c.813G>C c.(811-813)ctG>ctC p.L271L NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 271 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) AGAGCCGGCGCAGGGTGCGGG 0.677000 T """ETV1, ETV5, ELK4, ERG""" prostate 22 39 0 0 3.10358e-05 0 0 SNED1 25992 broad.mit.edu 37 2 242011004 242011004 + Silent SNP C C T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:242011004C>T ENST00000310397.8 + 25 3603 c.3603C>T c.(3601-3603)ggC>ggT p.G1201G SNED1_ENST00000342631.6_Silent_p.G1201G|SNED1_ENST00000405547.3_Silent_p.G1201G|SNED1_ENST00000401884.1_Silent_p.G1201G NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 1201 HSEPAHLYIITSPRDGADRRW -> Q (in Ref. 3; AAQ04558). cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CCAGGGATGGCGCTGACAGAC 0.697000 5 5 0 0 8.12818e-05 0 0 MEI1 150365 broad.mit.edu 37 22 42172254 42172254 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr22:42172254G>A ENST00000401548.3 + 21 2733 c.2693G>A c.(2692-2694)gGg>gAg p.G898E MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.G216E|MEI1_ENST00000400107.1_Missense_Mutation_p.G266E NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 898 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GTGGAGCATGGGGCATCCCCA 0.567000 16 47 0 0 5.01169e-05 0 0 CHPF 79586 broad.mit.edu 37 2 220404347 220404347 + Missense_Mutation SNP C C G rs142415191 byFrequency TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:220404347C>G ENST00000243776.6 - 4 2334 c.2086G>C c.(2086-2088)Gaa>Caa p.E696Q CHPF_ENST00000535926.1_Missense_Mutation_p.E534Q NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 696 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TCTTCTTGTTCTGAGGCTGCC 0.647000 29 72 0 0 8.91981e-05 0 0 ACSM1 116285 broad.mit.edu 37 16 20702419 20702419 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr16:20702419G>A ENST00000307493.4 - 1 159 c.92C>T c.(91-93)tCt>tTt p.S31F ACSM1_ENST00000520010.1_Missense_Mutation_p.S31F|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 31 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TTCTGATAAAGACCGGCAGCG 0.498000 46 137 0 0 0.000147903 0 0 GPRIN1 114787 broad.mit.edu 37 5 176024747 176024747 + Missense_Mutation SNP C C G TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr5:176024747C>G ENST00000303991.4 - 2 2266 c.2089G>C c.(2089-2091)Gca>Cca p.A697P NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 697 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGAAGGTGCAGAGTCGGCT 0.597000 12 36 0 0 0.00010058 0 0 TGM1 7051 broad.mit.edu 37 14 24729191 24729191 + Nonsense_Mutation SNP G G T rs147879156 TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr14:24729191G>T ENST00000206765.6 - 5 954 c.831C>A c.(829-831)taC>taA p.Y277* TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 277 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CTTCGGTCCCGTAGTAAATTC 0.557000 17 19 4.35082e-09 4.02874e-07 1.64113e-05 1 0 NOX5 79400 broad.mit.edu 37 15 69325408 69325408 + Missense_Mutation SNP G G A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr15:69325408G>A ENST00000260364.5 + 6 893 c.592G>A c.(592-594)Gcc>Acc p.A198T NOX5_ENST00000530406.2_Missense_Mutation_p.A188T|NOX5_ENST00000388866.3_Missense_Mutation_p.A216T|NOX5_ENST00000455873.3_Missense_Mutation_p.A181T|NOX5_ENST00000448182.3_Missense_Mutation_p.A170T Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 216 EF-hand 4. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GAcggcccccgccccccgccc 0.721000 23 9 0 0 2.90539e-05 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 9 92 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 9 48 --- --- --- --- ANKRD20A8P 729171 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 8 137 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 2 4 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 7 215 --- --- --- --- CYP26C1 340665 broad.mit.edu 37 10 94828268 94828268 + Frame_Shift_Del DEL C C - TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr10:94828268delC ENST00000285949.5 + 6 1383 c.1383delC c.(1381-1383)ggfs p.G461fs NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 461 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GCTGCCTCGGCCAGGAGCTGG 0.706 2 4 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 2 4 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 11 403 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 7 34 --- --- --- --- LRRC37A2 474170 broad.mit.edu 37 17 44626186 44626186 + Frame_Shift_Del DEL G G - TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr17:44626186delG ENST00000576629.1 + 10 4176 c.3681delG c.(3679-3681)gcfs p.A1227fs ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.A1227fs|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1227 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) AGAAGTTAGCGGGAAACGCCG 0.592 23 184 --- --- --- --- PPP6R1 22870 broad.mit.edu 37 19 55748038 55748039 + Frame_Shift_Ins INS - - C TCGA-D3-A1Q1-06A-21D-A196-08 TCGA-D3-A1Q1-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0583407-712d-46f3-8c4e-4eeaa0149087 628778f0-a013-498a-938a-bea1361add23 g.chr19:55748038_55748039insC ENST00000412770.2 - 17 2526_2527 c.1960_1961insG c.(1960-1962)ccgfs p.P654fs PPP6R1_ENST00000587283.1_Frame_Shift_Ins_p.P654fs NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 654 Glu-rich. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 GCCCAGACGGGCCCCCCTGGCC 0.649 7 21 --- --- --- ---