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 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 24 0 0 6.4e-05 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 3 111 0 0 6.4e-05 0 0 MAP3K3 4215 broad.mit.edu 37 17 61759152 61759152 + Missense_Mutation SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr17:61759152C>T ENST00000361357.3 + 8 940 c.622C>T c.(622-624)Cct>Tct p.P208S MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000361733.3_Missense_Mutation_p.P177S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 177 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CCGAAGCTCACCTCCCCCTGG 0.607000 43 62 0 0 0.000374591 0 0 RIT2 6014 broad.mit.edu 37 18 40503596 40503596 + Missense_Mutation SNP T T A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr18:40503596T>A ENST00000589109.1 - 4 538 c.367A>T c.(367-369)Acc>Tcc p.T123S RIT2_ENST00000326695.5_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T|RIT2_ENST00000282028.4_Missense_Mutation_p.T123S NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 123 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATTTCATAGGTGTGGCGGACC 0.493000 64 111 0 0 0.000147903 0 0 AGMO 392636 broad.mit.edu 37 7 15430321 15430321 + Missense_Mutation SNP T T C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr7:15430321T>C ENST00000342526.3 - 8 966 c.797A>G c.(796-798)aAt>aGt p.N266S NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 266 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TTCAAATGTATTAATGGGATG 0.289000 56 69 0 0 0.000147903 0 0 BNIP3P1 0 broad.mit.edu 37 14 28733813 28733813 + RNA SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr14:28733813G>A ENST00000550043.1 + 0 218 AGGGCTCCTGGGTAGAATTGC 0.592000 18 26 0 0 7.07596e-05 0 0 AGBL1 123624 broad.mit.edu 37 15 86838596 86838596 + Silent SNP G G C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr15:86838596G>C ENST00000441037.2 + 16 2288 c.2193G>C c.(2191-2193)acG>acC p.T731T AGBL1_ENST00000421325.2_Silent_p.T731T|AGBL1_ENST00000389298.3_Silent_p.T462T NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 731 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.T731T(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TGACCATCACGGCCATGCCTG 0.498000 3 69 0 0 6.4e-05 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093666 43093666 + Missense_Mutation SNP C C G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr19:43093666C>G ENST00000244336.5 - 3 747 c.646G>C c.(646-648)Gaa>Caa p.E216Q LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 216 Ig-like C2-type 1. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) TTCTGTATTTCACATTCATAG 0.537000 4 235 0 0 0.00024832 0 0 COL6A3 1293 broad.mit.edu 37 2 238280733 238280733 + Missense_Mutation SNP C C A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr2:238280733C>A ENST00000295550.4 - 9 4379 c.3927G>T c.(3925-3927)caG>caT p.Q1309H COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1309 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCACGTTGATCTGCCGCCCTC 0.617000 26 80 3.65163e-15 7.12412e-14 0.000147802 1 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 37 0 0 0.00024832 0 0 TTC37 9652 broad.mit.edu 37 5 94858951 94858951 + Missense_Mutation SNP C C A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr5:94858951C>A ENST00000358746.2 - 18 2010 c.1712G>T c.(1711-1713)gGa>gTa p.G571V NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 571 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ATAGTATAGTCCTCGCCTAAG 0.393000 45 78 2.77807e-22 5.6324e-21 0.000125731 1 0 TG 7038 broad.mit.edu 37 8 133880376 133880376 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr8:133880376C>T ENST00000220616.4 + 2 124 c.84C>T c.(82-84)gcC>gcT p.A28A TG_ENST00000377869.1_Silent_p.A28A NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 28 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGTGGATGCCCAGCCCCTTC 0.547000 13 37 0 0 0.000151284 0 0 IL11RA 3590 broad.mit.edu 37 9 34659885 34659885 + Missense_Mutation SNP A A C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr9:34659885A>C ENST00000555003.1 + 9 2296 c.940A>C c.(940-942)Act>Cct p.T314P IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P|IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P Q14626 I11RA_HUMAN interleukin 11 receptor, alpha 314 integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) GGCCTGGGGAACTCCGAGCAC 0.592000 16 29 0 0 0.000566183 0 0 TRIM7 81786 broad.mit.edu 37 5 180622520 180622520 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr5:180622520C>T ENST00000393315.1 - 7 1255 c.558G>A c.(556-558)tcG>tcA p.S186S CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000274773.7_Silent_p.S394S|TRIM7_ENST00000422067.2_Silent_p.S186S|TRIM7_ENST00000393319.3_Silent_p.S212S|TRIM7_ENST00000361809.3_Silent_p.S186S|TRIM7_ENST00000504241.1_5'UTR NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 394 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) GATGCCGGCCCGAGGAGAAGC 0.706000 8 58 0 0 0.000157383 0 0 KRT5 3852 broad.mit.edu 37 12 52913586 52913586 + Silent SNP C C T rs61726459 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr12:52913586C>T ENST00000252242.4 - 1 885 c.495G>A c.(493-495)agG>agA p.R165R NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 165 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GCTCCTCGGTCCTCACCCTCT 0.522000 7 148 0 0 0.000274275 0 0 COL6A2 0 broad.mit.edu 37 21 47552224 47552224 + Missense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr21:47552224G>A ENST00000300527.4 + 28 2922 c.2818G>A c.(2818-2820)Gca>Aca p.A940T NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 940 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCGGAGGCACGCAGAGCTGTC 0.657000 9 19 0 0 0.00010058 0 0 ZIC1 7545 broad.mit.edu 37 3 147128058 147128058 + Silent SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr3:147128058G>A ENST00000282928.4 + 1 888 c.159G>A c.(157-159)tcG>tcA p.S53S NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 53 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 ACCCCAGTTCGCACGAGCTGG 0.721000 22 33 0 0 0.000229342 0 0 HELZ2 85441 broad.mit.edu 37 20 62198473 62198473 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr20:62198473C>T ENST00000467148.1 - 6 2307 c.2238G>A c.(2236-2238)acG>acA p.T746T HELZ2_ENST00000427522.2_Silent_p.T177T NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CAATGGCGTCCGTGCAGCGGT 0.662000 39 72 0 0 0.000374591 0 0 PLCL1 5334 broad.mit.edu 37 2 198949565 198949565 + Missense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr2:198949565G>A ENST00000428675.1 + 2 1722 c.1324G>A c.(1324-1326)Gtt>Att p.V442I PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 442 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CTGTCGAAGCGTTGAACTCGA 0.408000 38 30 0 0 0.000109025 0 0 STAB2 55576 broad.mit.edu 37 12 104100607 104100607 + Missense_Mutation SNP G G T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr12:104100607G>T ENST00000388887.2 + 38 4238 c.4034G>T c.(4033-4035)tGc>tTc p.C1345F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1345 Laminin EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GGCCCCCAATGCCAGCCCTGC 0.547000 21 45 5.26018e-13 1.00723e-11 0.000229342 1 0 LRTM2 0 broad.mit.edu 37 12 1943779 1943779 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr12:1943779C>T ENST00000543818.1 + 5 1847 c.1005C>T c.(1003-1005)taC>taT p.Y335Y LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Silent_p.Y335Y|LRTM2_ENST00000535041.1_Silent_p.Y335Y|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 335 integral to membrane p.Y335Y(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GCTGCATCTACGCCTCCCTCA 0.637000 40 40 0 0 0.000191422 0 0 TEK 7010 broad.mit.edu 37 9 27157925 27157925 + Missense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr9:27157925G>A ENST00000380036.4 + 2 591 c.149G>A c.(148-150)cGc>cAc p.R50H TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 50 Ig-like C2-type 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R50H(1) breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCTGGGTGGCGCCCCCATGAG 0.502000 50 81 0 0 0.000147903 0 0 HTR3C 170572 broad.mit.edu 37 3 183777419 183777419 + Missense_Mutation SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr3:183777419C>T ENST00000318351.1 + 7 950 c.916C>T c.(916-918)Ccc>Tcc p.P306S NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 306 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGTGGCACCCCCCTCATCAG 0.582000 10 133 0 0 0.00010058 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa 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 23 34 0 0 0.000229342 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 65 0 0 1.23904e-05 0 0 SHROOM1 134549 broad.mit.edu 37 5 132158517 132158517 + Nonsense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr5:132158517G>A ENST00000378679.3 - 10 3334 c.2530C>T c.(2530-2532)Cag>Tag p.Q844* SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775* NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 844 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGGGCGGCTGAACTGGAGGA 0.622000 15 17 0 0 0.000422831 0 0 GRIN2D 2906 broad.mit.edu 37 19 48908178 48908178 + Missense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr19:48908178G>A ENST00000263269.3 + 3 741 c.653G>A c.(652-654)cGc>cAc p.R218H NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 218 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGGGAGCACCGCGGAGCGCTG 0.682000 10 131 0 0 3.86212e-05 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 38 0 0 6.4e-05 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058637 67058637 + Missense_Mutation SNP T T C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr3:67058637T>C ENST00000295568.4 + 4 1687 c.1556T>C c.(1555-1557)gTt>gCt p.V519A KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A|KBTBD8_ENST00000417314.2_Missense_Mutation_p.V545A NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 545 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) CAAGTGACTGTTGAAGAACAC 0.403000 9 79 0 0 0.000442599 0 0 UMOD 7369 broad.mit.edu 37 16 20355366 20355366 + Silent SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr16:20355366G>A ENST00000396134.2 - 7 1533 c.1410C>T c.(1408-1410)acC>acT p.T470T UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000396138.4_Silent_p.T486T|UMOD_ENST00000570689.1_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 437 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GCTGTAGGGCGGTCTTCAGGC 0.537000 22 43 0 0 0.000229342 0 0 PCDHB8 0 broad.mit.edu 37 5 140559327 140559327 + Missense_Mutation SNP C C T rs141057693 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr5:140559327C>T ENST00000239444.2 + 1 1957 c.1712C>T c.(1711-1713)gCg>gTg p.A571V NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 571 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGGCTCCGCGCCCTGCACC 0.716000 45 184 0 0 0.000147903 0 0 AHI1 54806 broad.mit.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr6:135784313T>C ENST00000367800.4 - 6 1097 c.881A>G c.(880-882)cAa>cGa p.Q294R AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R|AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 294 adherens junction|cilium|microtubule basal body p.Q294R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGTATCATCTTGCATGCTGTC 0.313000 4 63 0 0 0.00024832 0 0 STEAP2 261729 broad.mit.edu 37 7 89856412 89856412 + Missense_Mutation SNP G G T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr7:89856412G>T ENST00000287908.3 + 3 1013 c.620G>T c.(619-621)cGa>cTa p.R207L STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L|STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 207 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) TTACCCCTACGACTCTTTACT 0.438000 24 37 4.4004e-07 8.27276e-06 0.00047179 1 0 JARID2 3720 broad.mit.edu 37 6 15513524 15513524 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr6:15513524C>T ENST00000341776.2 + 16 3565 c.3321C>T c.(3319-3321)tcC>tcT p.S1107S JARID2_ENST00000397311.3_Silent_p.S935S NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 1107 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TCCACTCCTCCGCACGCTATG 0.637000 15 14 0 0 0.000308642 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978232 45978232 + Missense_Mutation SNP T T C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr21:45978232T>C ENST00000391620.1 - 1 411 c.367A>G c.(367-369)Atc>Gtc p.I123V TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 123 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 acacagcagatgggcttgcag 0.652000 5 306 0 0 0.000274275 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156708 26156708 + Silent SNP G G C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr6:26156708G>C ENST00000304218.3 + 1 150 c.90G>C c.(88-90)gcG>gcC p.A30A NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 30 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 CTGCAGGTGCGGCCAAGCGCA 0.642000 47 72 0 0 0.000589545 0 0 FRG1B 0 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T T C rs111331725 by1000genomes TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr20:29628261T>C ENST00000278882.3 + 6 643 c.263T>C c.(262-264)tTt>tCt p.F88S FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S|FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363000 6 61 0 0 0.000442599 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293827 71293827 + Silent SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr11:71293827G>A ENST00000398530.1 - 1 94 c.57C>T c.(55-57)tcC>tcT p.S19S AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 19 keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCCCACTGCCGGAGCCACAGC 0.632000 18 68 0 0 0.000132079 0 0 OR2G3 81469 broad.mit.edu 37 1 247769085 247769085 + Silent SNP C C G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr1:247769085C>G ENST00000320002.2 + 1 230 c.198C>G c.(196-198)ctC>ctG p.L66L RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCAGCAACCTCTCTTTACTGG 0.458000 4 324 0 0 0.00024832 0 0 IL7R 3575 broad.mit.edu 37 5 35875685 35875685 + Missense_Mutation SNP G G C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr5:35875685G>C ENST00000303115.3 + 7 1001 c.872G>C c.(871-873)aGa>aCa p.R291T IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q|IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 291 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AAGAAACCAAGAAAAGTGAGT 0.413000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 11 20 0 0 0.000151284 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 49 0 0 6.4e-05 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 3 111 0 0 6.4e-05 0 0 MAP3K3 4215 broad.mit.edu 37 17 61759152 61759152 + Missense_Mutation SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr17:61759152C>T ENST00000361357.3 + 8 940 c.622C>T c.(622-624)Cct>Tct p.P208S MAP3K3_ENST00000361733.3_Missense_Mutation_p.P177S|MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 177 MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CCGAAGCTCACCTCCCCCTGG 0.607000 43 62 0 0 0.00195071 0 0 RIT2 6014 broad.mit.edu 37 18 40503596 40503596 + Missense_Mutation SNP T T A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr18:40503596T>A ENST00000589109.1 - 4 538 c.367A>T c.(367-369)Acc>Tcc p.T123S RIT2_ENST00000282028.4_Missense_Mutation_p.T123S|RIT2_ENST00000326695.5_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 123 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATTTCATAGGTGTGGCGGACC 0.493000 64 111 0 0 0.000781405 0 0 AGMO 392636 broad.mit.edu 37 7 15430321 15430321 + Missense_Mutation SNP T T C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr7:15430321T>C ENST00000342526.3 - 8 966 c.797A>G c.(796-798)aAt>aGt p.N266S NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 266 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TTCAAATGTATTAATGGGATG 0.289000 56 69 0 0 0.000781405 0 0 AC093642.5 0 broad.mit.edu 37 2 243056808 243056808 + RNA SNP T T A rs144220014 by1000genomes TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr2:243056808T>A ENST00000456398.1 + 0 329 ATAGCGAAGATGGAGAAATAC 0.279000 3 51 0 0 6.4e-05 0 0 BNIP3P1 0 broad.mit.edu 37 14 28733813 28733813 + RNA SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr14:28733813G>A ENST00000550043.1 + 0 218 AGGGCTCCTGGGTAGAATTGC 0.592000 18 26 0 0 0.00074312 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093666 43093666 + Missense_Mutation SNP C C G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr19:43093666C>G ENST00000244336.5 - 3 747 c.646G>C c.(646-648)Gaa>Caa p.E216Q CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 216 Ig-like C2-type 1. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) TTCTGTATTTCACATTCATAG 0.537000 4 235 0 0 0.00024832 0 0 COL6A3 1293 broad.mit.edu 37 2 238280733 238280733 + Missense_Mutation SNP C C A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr2:238280733C>A ENST00000295550.4 - 9 4379 c.3927G>T c.(3925-3927)caG>caT p.Q1309H COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1309 Nonhelical region.|VWFA 7. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCACGTTGATCTGCCGCCCTC 0.617000 26 80 3.65163e-15 5.32407e-14 0.00106085 1 0 HIST1H1E 3008 broad.mit.edu 37 6 26156708 26156708 + Silent SNP G G C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr6:26156708G>C ENST00000304218.3 + 1 150 c.90G>C c.(88-90)gcG>gcC p.A30A NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 30 nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 CTGCAGGTGCGGCCAAGCGCA 0.642000 47 72 0 0 0.00285205 0 0 TG 7038 broad.mit.edu 37 8 133880376 133880376 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr8:133880376C>T ENST00000220616.4 + 2 124 c.84C>T c.(82-84)gcC>gcT p.A28A TG_ENST00000377869.1_Silent_p.A28A NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 28 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGTGGATGCCCAGCCCCTTC 0.547000 13 37 0 0 0.00185496 0 0 IL11RA 3590 broad.mit.edu 37 9 34659885 34659885 + Missense_Mutation SNP A A C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr9:34659885A>C ENST00000555003.1 + 9 2296 c.940A>C c.(940-942)Act>Cct p.T314P IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P|IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P Q14626 I11RA_HUMAN interleukin 11 receptor, alpha 314 integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) GGCCTGGGGAACTCCGAGCAC 0.592000 16 29 0 0 0.000566183 0 0 TRIM7 81786 broad.mit.edu 37 5 180622520 180622520 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr5:180622520C>T ENST00000393315.1 - 7 1255 c.558G>A c.(556-558)tcG>tcA p.S186S TRIM7_ENST00000393319.3_Silent_p.S212S|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000274773.7_Silent_p.S394S|TRIM7_ENST00000422067.2_Silent_p.S186S|TRIM7_ENST00000361809.3_Silent_p.S186S|TRIM7_ENST00000504241.1_5'UTR NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 394 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) GATGCCGGCCCGAGGAGAAGC 0.706000 8 58 0 0 0.000157383 0 0 KRT5 3852 broad.mit.edu 37 12 52913586 52913586 + Silent SNP C C T rs61726459 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr12:52913586C>T ENST00000252242.4 - 1 885 c.495G>A c.(493-495)agG>agA p.R165R NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 165 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GCTCCTCGGTCCTCACCCTCT 0.522000 7 148 0 0 0.000274275 0 0 ZIC1 7545 broad.mit.edu 37 3 147128058 147128058 + Silent SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr3:147128058G>A ENST00000282928.4 + 1 888 c.159G>A c.(157-159)tcG>tcA p.S53S NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 53 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 ACCCCAGTTCGCACGAGCTGG 0.721000 22 33 0 0 0.00188189 0 0 HELZ2 85441 broad.mit.edu 37 20 62198473 62198473 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr20:62198473C>T ENST00000467148.1 - 6 2307 c.2238G>A c.(2236-2238)acG>acA p.T746T HELZ2_ENST00000427522.2_Silent_p.T177T NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CAATGGCGTCCGTGCAGCGGT 0.662000 39 72 0 0 0.00195071 0 0 PLCL1 5334 broad.mit.edu 37 2 198949565 198949565 + Missense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr2:198949565G>A ENST00000428675.1 + 2 1722 c.1324G>A c.(1324-1326)Gtt>Att p.V442I PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 442 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CTGTCGAAGCGTTGAACTCGA 0.408000 38 30 0 0 0.000692331 0 0 STAB2 55576 broad.mit.edu 37 12 104100607 104100607 + Missense_Mutation SNP G G T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr12:104100607G>T ENST00000388887.2 + 38 4238 c.4034G>T c.(4033-4035)tGc>tTc p.C1345F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1345 Laminin EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GGCCCCCAATGCCAGCCCTGC 0.547000 21 45 5.26018e-13 7.51896e-12 0.00188189 1 0 LRTM2 0 broad.mit.edu 37 12 1943779 1943779 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr12:1943779C>T ENST00000543818.1 + 5 1847 c.1005C>T c.(1003-1005)taC>taT p.Y335Y LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000535041.1_Silent_p.Y335Y|LRTM2_ENST00000299194.1_Silent_p.Y335Y|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 335 integral to membrane p.Y335Y(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GCTGCATCTACGCCTCCCTCA 0.637000 40 40 0 0 0.00111076 0 0 TEK 7010 broad.mit.edu 37 9 27157925 27157925 + Missense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr9:27157925G>A ENST00000380036.4 + 2 591 c.149G>A c.(148-150)cGc>cAc p.R50H TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 50 Ig-like C2-type 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R50H(1) breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCTGGGTGGCGCCCCCATGAG 0.502000 50 81 0 0 0.000781405 0 0 HTR3C 170572 broad.mit.edu 37 3 183777419 183777419 + Missense_Mutation SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr3:183777419C>T ENST00000318351.1 + 7 950 c.916C>T c.(916-918)Ccc>Tcc p.P306S NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 306 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGTGGCACCCCCCTCATCAG 0.582000 10 133 0 0 0.00136819 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 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 23 34 0 0 0.00188189 0 0 DNM1P46 0 broad.mit.edu 37 15 100339997 100339997 + RNA SNP G G C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr15:100339997G>C ENST00000341853.1 - 0 929 NR_003260.1 GTGTCTTCTCGTTCCCACGCG 0.612000 3 33 0 0 6.4e-05 0 0 SHROOM1 134549 broad.mit.edu 37 5 132158517 132158517 + Nonsense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr5:132158517G>A ENST00000378679.3 - 10 3334 c.2530C>T c.(2530-2532)Cag>Tag p.Q844* SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775* NM_001172700.1 NP_001166171.1 Q2M3G4 SHRM1_HUMAN shroom family member 1 844 actin filament bundle assembly|cell morphogenesis cytoplasm|microtubule actin filament binding endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGGGCGGCTGAACTGGAGGA 0.622000 15 17 0 0 0.000422831 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058637 67058637 + Missense_Mutation SNP T T C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr3:67058637T>C ENST00000295568.4 + 4 1687 c.1556T>C c.(1555-1557)gTt>gCt p.V519A KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A|KBTBD8_ENST00000417314.2_Missense_Mutation_p.V545A NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 545 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) CAAGTGACTGTTGAAGAACAC 0.403000 9 79 0 0 0.000442599 0 0 UMOD 7369 broad.mit.edu 37 16 20355366 20355366 + Silent SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr16:20355366G>A ENST00000396134.2 - 7 1533 c.1410C>T c.(1408-1410)acC>acT p.T470T UMOD_ENST00000570689.1_Silent_p.T437T|UMOD_ENST00000396138.4_Silent_p.T486T|UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 437 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GCTGTAGGGCGGTCTTCAGGC 0.537000 22 43 0 0 0.00188189 0 0 PCDHB8 0 broad.mit.edu 37 5 140559327 140559327 + Missense_Mutation SNP C C T rs141057693 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr5:140559327C>T ENST00000239444.2 + 1 1957 c.1712C>T c.(1711-1713)gCg>gTg p.A571V NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 571 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGGCTCCGCGCCCTGCACC 0.716000 45 184 0 0 0.000781405 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32521691 32521691 + RNA SNP A A G rs113051760 by1000genomes TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr6:32521691A>G ENST00000411500.1 - 0 792 NR_001298.1 GGCCCAGCACAAAGCCCCCGA 0.488000 5 19 0 0 0.000157383 0 0 TTC37 9652 broad.mit.edu 37 5 94858951 94858951 + Missense_Mutation SNP C C A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr5:94858951C>A ENST00000358746.2 - 18 2010 c.1712G>T c.(1711-1713)gGa>gTa p.G571V NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 571 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ATAGTATAGTCCTCGCCTAAG 0.393000 45 78 2.77807e-22 4.21919e-21 0.000680045 1 0 STEAP2 261729 broad.mit.edu 37 7 89856412 89856412 + Missense_Mutation SNP G G T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr7:89856412G>T ENST00000287908.3 + 3 1013 c.620G>T c.(619-621)cGa>cTa p.R207L STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 207 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) TTACCCCTACGACTCTTTACT 0.438000 24 37 4.4004e-07 6.16903e-06 0.00047179 1 0 JARID2 3720 broad.mit.edu 37 6 15513524 15513524 + Silent SNP C C T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr6:15513524C>T ENST00000341776.2 + 16 3565 c.3321C>T c.(3319-3321)tcC>tcT p.S1107S JARID2_ENST00000397311.3_Silent_p.S935S NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 1107 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TCCACTCCTCCGCACGCTATG 0.637000 15 14 0 0 0.000308642 0 0 SDF4 51150 broad.mit.edu 37 1 1152973 1152973 + Silent SNP G G T TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr1:1152973G>T ENST00000360001.6 - 7 1270 c.1008C>A c.(1006-1008)ccC>ccA p.P336P SDF4_ENST00000263741.7_3'UTR Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 336 EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity). cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|identical protein binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) GCACCTCCTCGGGCTCCAGGT 0.642000 4 77 0.000602214 0.00828329 0.000602214 1 0 COL6A2 0 broad.mit.edu 37 21 47552224 47552224 + Missense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr21:47552224G>A ENST00000300527.4 + 28 2922 c.2818G>A c.(2818-2820)Gca>Aca p.A940T NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 940 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCGGAGGCACGCAGAGCTGTC 0.657000 9 19 0 0 0.00136819 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293827 71293827 + Silent SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr11:71293827G>A ENST00000398530.1 - 1 94 c.57C>T c.(55-57)tcC>tcT p.S19S AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 19 keratin filament endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCCCACTGCCGGAGCCACAGC 0.632000 18 68 0 0 0.00121646 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 4 187 0 0 0.00024832 0 0 OR2G3 81469 broad.mit.edu 37 1 247769085 247769085 + Silent SNP C C G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr1:247769085C>G ENST00000320002.2 + 1 230 c.198C>G c.(196-198)ctC>ctG p.L66L RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCAGCAACCTCTCTTTACTGG 0.458000 4 324 0 0 0.00024832 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 3 24 0 0 6.4e-05 0 0 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A A G TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr19:50370414A>G ENST00000322344.3 - 2 157 c.48T>C c.(46-48)ccT>ccC p.P16P PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding p.P16P(8) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721000 Other BER factors 6 24 0 0 0.00136819 0 0 GRIN2D 2906 broad.mit.edu 37 19 48908178 48908178 + Missense_Mutation SNP G G A TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr19:48908178G>A ENST00000263269.3 + 3 741 c.653G>A c.(652-654)cGc>cAc p.R218H NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 218 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGGGAGCACCGCGGAGCGCTG 0.682000 10 131 0 0 0.000673444 0 0 IL7R 3575 broad.mit.edu 37 5 35875685 35875685 + Missense_Mutation SNP G G C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr5:35875685G>C ENST00000303115.3 + 7 1001 c.872G>C c.(871-873)aGa>aCa p.R291T IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q|IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 291 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AAGAAACCAAGAAAAGTGAGT 0.413000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 11 20 0 0 0.00185496 0 0 AGBL1 123624 broad.mit.edu 37 15 86838596 86838596 + Silent SNP G G C TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr15:86838596G>C ENST00000441037.2 + 16 2288 c.2193G>C c.(2191-2193)acG>acC p.T731T AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1_ENST00000421325.2_Silent_p.T731T NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 731 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.T731T(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TGACCATCACGGCCATGCCTG 0.498000 3 69 0 0 6.4e-05 0 0 RPTN 126638 broad.mit.edu 37 1 152128205 152128208 + Frame_Shift_Del DEL TGTC TGTC - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr1:152128205_152128208delTGTC ENST00000316073.3 - 3 1431_1434 c.1367_1370delGACA c.(1366-1371)aafs p.RQ456fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 456 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.520 11 1497 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - TT rs55992531 by1000genomes TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr3:195400918_195400919insTT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 4 7 --- --- --- --- MBL1P 0 broad.mit.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr10:81680656delA ENST00000480805.1 + 0 723 NR_002724.2 GCTTTTGGGGAAAAAAAAAAG 0.542 5 9 --- --- --- --- NAALADL1 10004 broad.mit.edu 37 11 64825888 64825888 + Frame_Shift_Del DEL C C - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr11:64825888delC ENST00000358658.3 - 1 133 c.106delG c.(106-108)ccfs p.A36fs NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.A36fs NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 36 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 TCCTGGGGGGCCAGTGAGTTG 0.642 14 47 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96514998 96514999 + RNA INS - - A rs112766481 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr11:96514998_96514999insA ENST00000527528.1 + 0 158 GCTTAGTTATTaaaaaaaaaaa 0.366 4 7 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988562 18988562 + RNA DEL T T - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr17:18988562delT ENST00000442355.2 + 0 272 CTGATGTGTGTTTTTTTTTTT 0.279 2 4 --- --- --- --- SIGLEC6 946 broad.mit.edu 37 19 52033047 52033049 + In_Frame_Del DEL CTT CTT - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 5ed6f01d-f1a2-403a-88d9-afc258e621aa g.chr19:52033047_52033049delCTT ENST00000346477.3 - 4 961_963 c.893_895delAAG c.(892-897)gga>g p.EG298del SIGLEC6_ENST00000425629.3_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000359982.4_In_Frame_Del_p.EG325del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.EG303del|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.EG262del NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 314 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTGAAATCTCCTTCTTCTGCAGA 0.601 32 56 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 4 5 --- --- --- --- NAALADL1 10004 broad.mit.edu 37 11 64825888 64825888 + Frame_Shift_Del DEL C C - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr11:64825888delC ENST00000358658.3 - 1 133 c.106delG c.(106-108)ccfs p.A36fs NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.A36fs NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 36 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 TCCTGGGGGGCCAGTGAGTTG 0.642 14 47 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96514998 96514999 + RNA INS - - A rs112766481 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr11:96514998_96514999insA ENST00000527528.1 + 0 158 GCTTAGTTATTaaaaaaaaaaa 0.366 4 7 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13319694 13319696 + In_Frame_Del DEL TGG TGG - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr19:13319694_13319696delTGG ENST00000360228.5 - 46 6653_6655 c.6654_6656delCCA c.(6652-6657)cat>ca p.HH2218del CACNA1A_ENST00000573710.2_In_Frame_Del_p.HH2219del NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 2219 Poly-His. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGGCGGGGGAtggtggtggtggt 0.734 2 4 --- --- --- --- SIGLEC6 946 broad.mit.edu 37 19 52033047 52033049 + In_Frame_Del DEL CTT CTT - TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr19:52033047_52033049delCTT ENST00000346477.3 - 4 961_963 c.893_895delAAG c.(892-897)gga>g p.EG298del SIGLEC6_ENST00000359982.4_In_Frame_Del_p.EG325del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.EG303del|SIGLEC6_ENST00000425629.3_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.EG262del NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 314 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTGAAATCTCCTTCTTCTGCAGA 0.601 32 56 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 9 50 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-BJ-A290-01A-11D-A17V-08 TCGA-BJ-A290-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx e9f5e75c-a8b7-4747-912b-1c261d4e3ee0 d93fac63-9b6f-4c57-9bf1-278dad8324a2 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 4 --- --- --- ---