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 SPEG 10290 broad.mit.edu 37 2 220355624 220355624 + Missense_Mutation SNP A A C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:220355624A>C ENST00000312358.7 + 38 9463 c.9331A>C c.(9331-9333)Aac>Cac p.N3111H AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 3111 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCAGCCCTACAACCCCCAGGC 0.657000 6 37 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49698498 49698498 + Nonsense_Mutation SNP G G T rs147485557 byFrequency TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr3:49698498G>T ENST00000296452.4 + 6 9334 c.9220G>T c.(9220-9222)Gga>Tga p.G3074* NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3074 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AACTCAGAACGGATTCCCAGC 0.667000 9 28 0.000978159 0.00104458 1 1 0 JAK2 3717 broad.mit.edu 37 9 5080377 5080377 + Missense_Mutation SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr9:5080377A>T ENST00000381652.3 + 17 2774 c.2280A>T c.(2278-2280)caA>caT p.Q760H AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.Q760H|JAK2_ENST00000544510.1_Missense_Mutation_p.Q611H NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 760 Protein kinase 1. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TGGATTCTCAAAGAGTAAGTT 0.318000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 76 86 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3165232 3165232 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:3165232G>T ENST00000520002.1 - 26 4493 c.3938C>A c.(3937-3939)cCa>cAa p.P1313Q CSMD1_ENST00000602723.1_Missense_Mutation_p.P1313Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1313Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1313Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1312Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1312Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1312Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1313 CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGTCTTTCCTGGGTCTGCCTC 0.438000 28 139 4.40665e-25 6.35291e-25 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25458823 25458823 + RNA SNP C C G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr15:25458823C>G ENST00000424208.1 + 0 2694 SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TTATATTGTTCTGAAGAGAGG 0.498000 56 98 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714181 70714181 + RNA SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr14:70714181C>A ENST00000530196.1 - 0 337 NR_003951.1 GTCCCCAAACCGCAGACTATA 0.522000 12 45 3.32936e-07 3.91823e-07 1 1 0 ANO3 63982 broad.mit.edu 37 11 26552859 26552859 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr11:26552859C>A ENST00000256737.3 + 8 1697 c.845C>A c.(844-846)cCc>cAc p.P282H ANO3_ENST00000537978.1_Missense_Mutation_p.P266H|ANO3_ENST00000525139.1_Missense_Mutation_p.P266H|ANO3_ENST00000531568.1_Missense_Mutation_p.P136H NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 282 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TATACTGGCCCCTTCAGCCGT 0.443000 44 49 5.2432e-18 6.92423e-18 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147183026 147183026 + Splice_Site SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:147183026G>T ENST00000361727.3 + 11 2186 c.e11-1 NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTCTCTGACAGATGTGTGCCC 0.453000 HNSCC(39;0.1) 37 84 2.75727e-19 3.72663e-19 1 1 0 GIMAP8 155038 broad.mit.edu 37 7 150164040 150164040 + Missense_Mutation SNP A A G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:150164040A>G ENST00000307271.3 + 2 828 c.254A>G c.(253-255)cAc>cGc p.H85R NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 85 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AACATCCAACACTGCTTGGAG 0.512000 36 105 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96704897 96704897 + Missense_Mutation SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:96704897T>C ENST00000261211.3 - 5 1079 c.476A>G c.(475-477)gAa>gGa p.E159G CDK17_ENST00000542666.1_Missense_Mutation_p.E106G|CDK17_ENST00000543119.2_Missense_Mutation_p.E159G NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 159 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 CTGCAACTTTTCAAGATATCC 0.383000 20 71 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53959272 53959272 + RNA SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:53959272G>T ENST00000454407.1 + 0 1964 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AAGACCTTTAGTCGGAAGTCA 0.413000 5 119 1 1 1 1 0 ESPNP 284729 broad.mit.edu 37 1 17017734 17017734 + RNA SNP C C T rs12561805 by1000genomes TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:17017734C>T ENST00000492551.1 - 0 1993 NR_026567.1 CAGCTTCTTCCGCAGGAGGTC 0.647000 3 30 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848883 73848883 + Silent SNP G G A rs137972887 TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:73848883G>A ENST00000523207.1 + 3 1881 c.1293G>A c.(1291-1293)gaG>gaA p.E431E NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 431 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AACGCCAAGAGAAAGCAATTA 0.443000 92 231 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30702133 30702133 + Silent SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:30702133C>T ENST00000256246.2 - 1 4475 c.4401G>A c.(4399-4401)gcG>gcA p.A1467A NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1467 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTGCTTTTTCCGCTTGTTTAA 0.343000 18 52 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14854557 14854557 + Silent SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:14854557C>A ENST00000315576.3 - 19 2674 c.2223G>T c.(2221-2223)ctG>ctT p.L741L EMR2_ENST00000601345.1_Silent_p.L730L|EMR2_ENST00000596991.2_Silent_p.L730L|EMR2_ENST00000594294.1_Silent_p.L692L|EMR2_ENST00000346057.1_Silent_p.L692L|EMR2_ENST00000595839.1_Silent_p.L599L|EMR2_ENST00000353005.1_Silent_p.L599L|EMR2_ENST00000392965.3_Silent_p.L683L|EMR2_ENST00000392967.2_Silent_p.L730L|EMR2_ENST00000594076.1_Silent_p.L648L|EMR2_ENST00000353876.1_Silent_p.L648L NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 741 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 ACGTGCAGCCCAGGATGAACA 0.542000 24 40 2.98393e-07 3.53575e-07 1 1 0 TRBV4-2 28616 broad.mit.edu 37 7 142045372 142045372 + RNA SNP A A G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:142045372A>G ENST00000390392.3 + 0 121 CATGGGCTGCAGGCTGCTCTG 0.562000 11 144 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36875410 36875410 + Splice_Site SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr3:36875410C>A ENST00000301807.6 - 21 5779 c.3881_splice c.e21-1 p.K1294_splice TRANK1_ENST00000428977.2_Splice_Site_p.K1294_splice|TRANK1_ENST00000429976.2_Splice_Site_p.K1844_splice NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1844 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTTCTTCATACCTGCAAAGAC 0.403000 9 16 0.000274275 0.000300314 1 1 0 HUNK 30811 broad.mit.edu 37 21 33340621 33340621 + Nonsense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr21:33340621C>T ENST00000270112.2 + 6 1294 c.934C>T c.(934-936)Cag>Tag p.Q312* NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 312 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GCCAAATATTCAGCAGGCACT 0.512000 13 62 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1155707 1155707 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr11:1155707C>A ENST00000356191.2 + 5 393 c.393C>A c.(391-393)caC>caA p.H131Q mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GCGGCCCCCACGCTGAGCAGG 0.632000 14 9 4.3838e-07 5.08992e-07 1 1 0 UBE3A 7337 broad.mit.edu 37 15 25616291 25616291 + Missense_Mutation SNP T T G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr15:25616291T>G ENST00000232165.3 - 6 1686 c.1030A>C c.(1030-1032)Att>Ctt p.I344L SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.I347L|UBE3A_ENST00000428984.2_Missense_Mutation_p.I324L|UBE3A_ENST00000438097.1_Missense_Mutation_p.I324L|UBE3A_ENST00000566215.1_Missense_Mutation_p.I324L NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 347 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) TTATAAGTAATAAGTTGCTGA 0.393000 27 66 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240985173 240985173 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:240985173G>A ENST00000319423.4 - 1 316 c.317C>T c.(316-318)tCc>tTc p.S106F NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) GCACACCAGGGAGCTGAAGAA 0.612000 18 31 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36875411 36875411 + Splice_Site SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr3:36875411C>T ENST00000301807.6 - 21 5779 c.e21-1 TRANK1_ENST00000428977.2_Splice_Site|TRANK1_ENST00000429976.2_Splice_Site NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTCTTCATACCTGCAAAGACA 0.403000 9 16 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196952085 196952085 + Silent SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:196952085C>T ENST00000367414.5 + 2 257 c.201C>T c.(199-201)tcC>tcT p.S67S CFHR5_ENST00000256785.4_Silent_p.S43S NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 43 Sushi 1. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ACCCTTTTTCCCAAGTTCCTA 0.348000 19 81 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 7012481 7012481 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr4:7012481G>A ENST00000409757.4 + 11 1744 c.1620G>A c.(1618-1620)atG>atA p.M540I TBC1D14_ENST00000451522.2_Missense_Mutation_p.M260I|TBC1D14_ENST00000410031.1_Missense_Mutation_p.M312I|TBC1D14_ENST00000448507.1_Missense_Mutation_p.M540I|TBC1D14_ENST00000446947.2_Missense_Mutation_p.M187I NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 540 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CCTGTCAAATGGCGTTTTTTA 0.443000 45 90 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 78001629 78001629 + Missense_Mutation SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:78001629A>T ENST00000344720.5 + 13 2474 c.1448A>T c.(1447-1449)gAc>gTc p.D483V AK5_ENST00000354567.2_Missense_Mutation_p.D509V|AK5_ENST00000478255.1_Missense_Mutation_p.D24V NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 509 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 CCTGTGGACGACACCACCAAG 0.572000 8 26 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30735524 30735524 + Silent SNP A A C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:30735524A>C ENST00000262518.4 + 25 5164 c.4779A>C c.(4777-4779)ccA>ccC p.P1593P SRCAP_ENST00000344771.4_Silent_p.P1435P|SRCAP_ENST00000395059.2_Silent_p.P1531P NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1593 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGGCGGCTCCACAGACAGCAA 0.602000 12 76 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21299711 21299711 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:21299711G>A ENST00000596143.1 + 5 566 c.241G>A c.(241-243)Gag>Aag p.E81K ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ATGTGAACATGAGAATTTACA 0.383000 11 26 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 4 30 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41765594 41765594 + Missense_Mutation SNP A A G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:41765594A>G ENST00000301178.4 + 20 2660 c.2470A>G c.(2470-2472)Atg>Gtg p.M824V AXL_ENST00000359092.3_Missense_Mutation_p.M815V|AXL_ENST00000593513.1_Missense_Mutation_p.M556V NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 824 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 CTATGTCAACATGGATGAGGG 0.577000 14 39 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144669022 144669022 + Splice_Site SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:144669022G>A ENST00000532741.1 - 2 1470 c.1241_splice c.e2-1 p.N414_splice EEF1D_ENST00000423316.2_Splice_Site_p.N364_splice|EEF1D_ENST00000317198.6_5'UTR|EEF1D_ENST00000524624.1_5'UTR|EEF1D_ENST00000526838.1_5'UTR|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Splice_Site_p.N364_splice|EEF1D_ENST00000532400.1_5'UTR|EEF1D_ENST00000395119.3_5'UTR|EEF1D_ENST00000528610.1_5'UTR|EEF1D_ENST00000531621.1_5'UTR P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCATTTTTCTGCTGGGAGGGG 0.537000 46 87 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725148 140725148 + Silent SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr5:140725148G>T ENST00000253812.6 + 1 1548 c.1548G>T c.(1546-1548)gcG>gcT p.A516A PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_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) TCCTATACGCGCTGAGATCCT 0.562000 37 71 2.09667e-21 2.92519e-21 1 1 0 NALCN 259232 broad.mit.edu 37 13 101742240 101742240 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr13:101742240C>A ENST00000251127.6 - 29 3428 c.3347G>T c.(3346-3348)gGc>gTc p.G1116V NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1116 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTCCACCCAGCCTTTCAAGGA 0.453000 104 181 2.44874e-31 3.652e-31 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18684407 18684407 + Silent SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:18684407C>A ENST00000406451.3 + 9 1167 c.1017C>A c.(1015-1017)tcC>tcA p.S339S HDAC9_ENST00000441542.2_Silent_p.S342S|HDAC9_ENST00000432645.2_Silent_p.S339S|HDAC9_ENST00000456174.2_Silent_p.S311S|HDAC9_ENST00000401921.1_Silent_p.S298S|HDAC9_ENST00000417496.2_Silent_p.S337S|HDAC9_ENST00000524023.1_Silent_p.S262S|HDAC9_ENST00000428307.2_Silent_p.S295S|HDAC9_ENST00000405010.3_Silent_p.S339S|HDAC9_ENST00000406072.1_Silent_p.S326S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 339 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CAGTGCCATCCCAGCTCAATG 0.418000 9 30 2.17888e-05 2.4637e-05 1 1 0 NBN 4683 broad.mit.edu 37 8 90993642 90993642 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:90993642C>A ENST00000265433.3 - 3 435 c.281G>T c.(280-282)gGg>gTg p.G94V NBN_ENST00000409330.1_Missense_Mutation_p.G12V NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 94 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) AATACCATCCCCCGACTTCAA 0.338000 Homologous recombination 71 145 3.4779e-39 5.27786e-39 1 1 0 BTAF1 9044 broad.mit.edu 37 10 93753493 93753493 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr10:93753493G>T ENST00000265990.6 + 22 3396 c.3088G>T c.(3088-3090)Gct>Tct p.A1030S NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1030 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AGCTGAATTTGCTTTGACAAC 0.373000 14 25 4.3838e-07 5.08992e-07 1 1 0 CYP4F8 11283 broad.mit.edu 37 19 15726455 15726455 + RNA SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:15726455G>T ENST00000441682.2 + 0 92 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GTCTTGGCTGGGCCTCAGGCC 0.667000 4 26 0.00909568 0.00947923 1 1 0 ASTN2 23245 broad.mit.edu 37 9 119858331 119858331 + Missense_Mutation SNP C C T rs149596951 TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr9:119858331C>T ENST00000313400.4 - 5 1368 c.1268G>A c.(1267-1269)cGc>cAc p.R423H ASTN2_ENST00000361209.2_Missense_Mutation_p.R372H|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R423H O75129 ASTN2_HUMAN astrotactin 2 423 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACCTTTGCTGCGGCGGCGACT 0.498000 11 27 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63487517 63487517 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr11:63487517G>A ENST00000377819.5 + 3 1697 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E403K|RTN3_ENST00000339997.4_Missense_Mutation_p.E496K NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 515 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 TACATCATTTGAAAATAACAA 0.408000 4 55 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205038964 205038964 + Missense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:205038964C>T ENST00000331830.4 + 18 2490 c.2206C>T c.(2206-2208)Cgg>Tgg p.R736W NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 736 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCCCATGTCACGGGAGTACCA 0.677000 22 179 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55929398 55929398 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr6:55929398C>A ENST00000244728.5 - 24 2547 c.2150G>T c.(2149-2151)aGa>aTa p.R717I COL21A1_ENST00000535941.1_Missense_Mutation_p.R717I|COL21A1_ENST00000370819.1_Missense_Mutation_p.R714I|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.R117I NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 717 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) AATTCCCTGTCTTCCATTTTC 0.328000 5 2 0.000602214 0.0006471 1 1 0 INTS1 26173 broad.mit.edu 37 7 1513272 1513272 + Missense_Mutation SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:1513272T>C ENST00000389470.4 - 43 6498 c.6499A>G c.(6499-6501)Atc>Gtc p.I2167V INTS1_ENST00000404767.3_Missense_Mutation_p.I1963V Q8N201 INT1_HUMAN integrator complex subunit 1 1963 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TACTTATGGATGAACTGCACA 0.577000 OREG0017827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 8 0 0 1 0 0 ACSS2 55902 broad.mit.edu 37 20 33509133 33509133 + Splice_Site SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr20:33509133G>T ENST00000360596.2 + 11 1489 c.1277_splice c.e11-1 p.K426_splice ACSS2_ENST00000253382.5_Splice_Site_p.K439_splice|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Splice_Site_p.K376_splice NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 426 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCTGCCCCAGGCATAGCCGGG 0.587000 22 54 1.22574e-08 1.49333e-08 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21908534 21908534 + Missense_Mutation SNP A A C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:21908534A>C ENST00000328843.6 + 74 11944 c.11913A>C c.(11911-11913)ttA>ttC p.L3971F DNAH11_ENST00000409508.3_Missense_Mutation_p.L3964F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3971 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATGTGTCTTTAGGACAAGGTC 0.478000 Kartagener syndrome 34 59 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5336798 5336798 + Missense_Mutation SNP A A G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:5336798A>G ENST00000396872.2 + 7 1012 c.851A>G c.(850-852)cAc>cGc p.H284R SLC29A4_ENST00000297195.4_Missense_Mutation_p.H284R|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H270R NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 284 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity p.H284L(1) breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TACCGCGTGCACCACGACGTT 0.662000 9 16 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8212563 8212563 + Silent SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:8212563G>T ENST00000307637.4 - 2 422 c.219C>A c.(217-219)ctC>ctA p.L73L NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 73 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) AGGGCAAGGAGAGGCAGCAGA 0.587000 13 41 4.36969e-10 5.43854e-10 1 1 0 ACVR1B 91 broad.mit.edu 37 12 52387839 52387839 + Missense_Mutation SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:52387839T>C ENST00000257963.4 + 9 1540 c.1463T>C c.(1462-1464)cTg>cCg p.L488P ACVR1B_ENST00000541224.1_Missense_Mutation_p.L529P|ACVR1B_ENST00000542485.1_Missense_Mutation_p.L436P NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 488 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CTGACGGCCCTGCGCATCAAG 0.617000 12 109 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168408 142168408 + RNA SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:142168408C>A ENST00000454561.2 - 0 515 GATACAGGGCCGAGTCGTCCA 0.512000 27 87 2.09667e-21 2.92519e-21 1 1 0 MUC6 4588 broad.mit.edu 37 11 1017471 1017471 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr11:1017471C>A ENST00000421673.2 - 31 5380 c.5330G>T c.(5329-5331)gGc>gTc p.G1777V NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1777 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTTCTGGTGCCTGTACTGGT 0.572000 28 475 8.58068e-18 1.12459e-17 1 1 0 TRO 7216 broad.mit.edu 37 X 54951138 54951138 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chrX:54951138C>A ENST00000173898.7 + 5 1489 c.1377C>A c.(1375-1377)gaC>gaA p.D459E TRO_ENST00000399736.1_Missense_Mutation_p.D62E|TRO_ENST00000375022.4_Missense_Mutation_p.D459E|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000319167.8_Missense_Mutation_p.D459E|TRO_ENST00000420798.2_5'UTR|TRO_ENST00000375041.2_Missense_Mutation_p.D62E NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 459 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TGGTTAAGGACCAGACAAAGA 0.498000 15 9 0.00400662 0.00420089 1 1 0 BRCA2 675 broad.mit.edu 37 13 32913737 32913737 + Missense_Mutation SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr13:32913737T>C ENST00000544455.1 + 11 5472 c.5245T>C c.(5245-5247)Tat>Cat p.Y1749H BRCA2_ENST00000380152.3_Missense_Mutation_p.Y1749H NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1749 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GTCTAACAGCTATTCCTACCA 0.308000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 28 20 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20307982 20307982 + Nonsense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:20307982C>T ENST00000335117.8 + 4 520 c.463C>T c.(463-465)Caa>Taa p.Q155* CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 CAAAATATTTCAATGTGGTAA 0.303000 13 39 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78910311 78910311 + Missense_Mutation SNP G G C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr9:78910311G>C ENST00000545128.1 + 26 3844 c.3306G>C c.(3304-3306)gaG>gaC p.E1102D NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 805 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGTGTGAAGAGGGCTTCTTTC 0.507000 4 14 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176318132 176318132 + Nonsense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr5:176318132C>T ENST00000292432.5 - 4 411 c.320G>A c.(319-321)tGg>tAg p.W107* NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 107 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGAGTCACCCACAAAACACG 0.602000 13 43 0 0 1 0 0 FAM189A2 9413 broad.mit.edu 37 9 72006534 72006534 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr9:72006534G>T ENST00000257515.8 + 11 1587 c.1167G>T c.(1165-1167)caG>caT p.Q389H FAM189A2_ENST00000455972.1_Missense_Mutation_p.Q389H|FAM189A2_ENST00000303068.7_Missense_Mutation_p.Q224H|FAM189A2_ENST00000377216.3_Missense_Mutation_p.Q176H|FAM189A2_ENST00000469179.1_3'UTR NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 389 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CCCCATTGCAGCCCAGCACAT 0.592000 6 40 0.0293803 0.0300757 1 1 0 NMT1 4836 broad.mit.edu 37 17 43176875 43176875 + Silent SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr17:43176875G>A ENST00000592782.1 + 9 1118 c.987G>A c.(985-987)ctG>ctA p.L329L NMT1_ENST00000258960.2_Silent_p.L329L P30419 NMT1_HUMAN N-myristoyltransferase 1 329 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) TCTACCGACTGCCAGAGGCCA 0.602000 OREG0024470 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 34 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30584535 30584535 + Missense_Mutation SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr20:30584535A>T ENST00000217299.3 + 3 1189 c.1015A>T c.(1015-1017)Atg>Ttg p.M339L NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 339 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTGGTGCGTCATGACCTTCTG 0.567000 19 26 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3129109 3129109 + Silent SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr4:3129109G>A ENST00000355072.5 + 12 1666 c.1521G>A c.(1519-1521)gcG>gcA p.A507A NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 507 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CACTGCAGGCGGACTCAGTGG 0.582000 16 30 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927228 55927228 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr11:55927228C>A ENST00000313447.1 - 1 565 c.566G>T c.(565-567)tGc>tTc p.C189F NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TGCATTTGAGCAAAGCATAGG 0.348000 36 20 1.414e-09 1.7473e-09 1 1 0 MICAL3 57553 broad.mit.edu 37 22 18324716 18324716 + Silent SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr22:18324716G>T ENST00000441493.2 - 20 3025 c.2673C>A c.(2671-2673)atC>atA p.I891I MICAL3_ENST00000400561.2_Silent_p.I891I|MICAL3_ENST00000383094.3_Silent_p.I891I|MICAL3_ENST00000414725.2_Silent_p.I919I|MICAL3_ENST00000444520.1_Silent_p.I891I|MICAL3_ENST00000207726.7_Silent_p.I919I NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 891 Glu-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TCTCCAGCTCGATCCGCTCTG 0.647000 11 4 0.000151284 0.000168853 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139163766 139163766 + Silent SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:139163766A>T ENST00000395297.1 - 13 3122 c.2952T>A c.(2950-2952)acT>acA p.T984T NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 984 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGGGGCACACAGTGCCTGCTT 0.507000 HNSCC(54;0.14) 36 58 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56906650 56906650 + Silent SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:56906650C>A ENST00000438926.2 + 8 1076 c.1047C>A c.(1045-1047)ccC>ccA p.P349P SLC12A3_ENST00000566786.1_Silent_p.P348P|SLC12A3_ENST00000262502.5_Silent_p.P348P|SLC12A3_ENST00000563236.1_Silent_p.P349P NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 349 P -> L (in GS). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCTTCTTCCCCTCGGCCACAG 0.567000 22 32 3.5997e-14 4.61295e-14 1 1 0 ACVR1B 91 broad.mit.edu 37 12 52387845 52387845 + Missense_Mutation SNP T T G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:52387845T>G ENST00000257963.4 + 9 1546 c.1469T>G c.(1468-1470)aTc>aGc p.I490S ACVR1B_ENST00000541224.1_Missense_Mutation_p.I531S|ACVR1B_ENST00000542485.1_Missense_Mutation_p.I438S NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 490 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GCCCTGCGCATCAAGAAGACC 0.612000 13 109 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 7012482 7012482 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr4:7012482G>T ENST00000409757.4 + 11 1745 c.1621G>T c.(1621-1623)Gcg>Tcg p.A541S TBC1D14_ENST00000451522.2_Missense_Mutation_p.A261S|TBC1D14_ENST00000410031.1_Missense_Mutation_p.A313S|TBC1D14_ENST00000448507.1_Missense_Mutation_p.A541S|TBC1D14_ENST00000446947.2_Missense_Mutation_p.A188S NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 541 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CTGTCAAATGGCGTTTTTTAG 0.443000 44 90 1.57945e-13 2.00916e-13 1 1 0 GPC6 10082 broad.mit.edu 37 13 95055323 95055323 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr13:95055323C>A ENST00000377047.4 + 9 2135 c.1520C>A c.(1519-1521)cCc>cAc p.P507H NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 507 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GACGTGTGTCCCACGGAGTTT 0.552000 37 91 6.53348e-20 8.89993e-20 1 1 0 NOL7 51406 broad.mit.edu 37 6 13615826 13615826 + Missense_Mutation SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr6:13615826A>T ENST00000451315.2 + 1 268 c.236A>T c.(235-237)gAg>gTg p.E79V AL441883.1_ENST00000600057.1_3'UTR|NOL7_ENST00000474485.1_3'UTR NM_016167.3 NP_057251.2 Q9UMY1 NOL7_HUMAN nucleolar protein 7, 27kDa 79 mitochondrion|nucleolus breast(1)|large_intestine(3)|lung(1) 5 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.135) Epithelial(50;0.176) GCGAGAGAAGAGGAGCGGCGA 0.667000 OREG0017200 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54949475 54949475 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chrX:54949475G>T ENST00000173898.7 + 3 622 c.510G>T c.(508-510)ttG>ttT p.L170F TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.L170F|TRO_ENST00000484031.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.L170F|TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 170 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 AGTCACCCTTGCAGGTCCTAA 0.498000 27 10 2.50493e-22 3.55207e-22 1 1 0 VPS4A 27183 broad.mit.edu 37 16 69349944 69349944 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:69349944G>A ENST00000254950.11 + 2 211 c.55G>A c.(55-57)Gag>Aag p.E19K VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.E43K NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 19 Interaction with CHMP1B.|MIT. cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) AGCCACAGAGGAGGACAAAGC 0.562000 18 56 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24930250 24930250 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:24930250G>T ENST00000405141.1 + 14 2622 c.1911G>T c.(1909-1911)ttG>ttT p.L637F NCOA1_ENST00000538539.1_Missense_Mutation_p.L637F|NCOA1_ENST00000395856.3_Missense_Mutation_p.L637F|NCOA1_ENST00000348332.3_Missense_Mutation_p.L637F|NCOA1_ENST00000407230.1_Missense_Mutation_p.L486F|NCOA1_ENST00000406961.1_Missense_Mutation_p.L637F|NCOA1_ENST00000288599.5_Missense_Mutation_p.L637F Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 637 Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCAGCTTTTGACAACAACTG 0.458000 T PAX3 alveolar rhadomyosarcoma 33 43 2.46105e-21 3.4061e-21 1 1 0 CDH11 1009 broad.mit.edu 37 16 65022083 65022083 + Nonsense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:65022083C>A ENST00000394156.3 - 7 1429 c.976G>T c.(976-978)Gag>Tag p.E326* CDH11_ENST00000268603.4_Nonsense_Mutation_p.E326*|CDH11_ENST00000566827.1_Nonsense_Mutation_p.E200* P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 326 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ATCACCCCCTCCTGTGTTTCA 0.443000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 36 133 4.3181e-19 5.79094e-19 1 1 0 MPO 4353 broad.mit.edu 37 17 56356388 56356388 + Missense_Mutation SNP G G C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr17:56356388G>C ENST00000340482.3 - 5 1138 c.962C>G c.(961-963)cCg>cGg p.P321R MPO_ENST00000225275.3_Missense_Mutation_p.P289R P05164 PERM_HUMAN myeloperoxidase 289 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GAAGCAGGGCGGCTGCTGAAC 0.667000 6 7 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 137034054 137034054 + Translation_Start_Site SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr5:137034054G>A ENST00000541417.1 - 0 472 KLHL3_ENST00000394937.3_Silent_p.D95D|KLHL3_ENST00000309755.4_Silent_p.D95D|KLHL3_ENST00000506491.1_Silent_p.D13D|KLHL3_ENST00000508657.1_Silent_p.D63D Q9UH77 KLHL3_HUMAN kelch-like family member 3 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GCCCATCCACGTCCTTGATTT 0.408000 43 91 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52863675 52863675 + Splice_Site SNP C C G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:52863675C>G ENST00000252250.6 - 7 1251 c.e7-1 NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GGCTGGCACACTAGGAGGGGA 0.562000 8 45 0 0 1 0 0 SMARCD2 6603 broad.mit.edu 37 17 61912160 61912160 + Splice_Site SNP G G C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr17:61912160G>C ENST00000448276.2 - 6 989 c.723_splice c.e6-1 p.P242_splice SMARCD2_ENST00000225742.9_Splice_Site_p.P167_splice|SMARCD2_ENST00000323347.10_Splice_Site_p.P194_splice NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 242 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1) 8 TGTTTGCTAGGCTGGGGATGG 0.507000 OREG0024642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 47 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15415892 15415892 + Missense_Mutation SNP A A C rs141034921 byFrequency TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:15415892A>C ENST00000281513.5 - 44 5465 c.5440T>G c.(5440-5442)Ttg>Gtg p.L1814V NBAS_ENST00000441750.1_Missense_Mutation_p.L1694V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1814 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ACTGGCTCCAATGCTTCAAGA 0.373000 26 57 0 0 1 0 0 TRAV27 28655 broad.mit.edu 37 14 22616368 22616368 + RNA SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr14:22616368C>A ENST00000390457.2 + 0 206 GGGAGAAAATCTCACTGTGTA 0.517000 7 62 0.248553 0.249998 1 1 0 IGKV1-17 28937 broad.mit.edu 37 2 89416963 89416963 + RNA SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:89416963G>T ENST00000490686.1 - 0 247 TTGCAAACTGGATGCAGCATA 0.512000 67 67 5.02462e-34 7.55878e-34 1 1 0 ZNF491 126069 broad.mit.edu 37 19 11917623 11917623 + Silent SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:11917623A>T ENST00000323169.5 + 3 1186 c.855A>T c.(853-855)tcA>tcT p.S285S ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 CTCCCAGTTCATTTCAAAGGC 0.413000 16 42 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103368622 103368622 + Missense_Mutation SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:103368622T>C ENST00000424685.2 - 7 848 c.689A>G c.(688-690)cAg>cGg p.Q230R RELN_ENST00000343529.5_Missense_Mutation_p.Q230R|RELN_ENST00000428762.1_Missense_Mutation_p.Q230R P78509 RELN_HUMAN reelin 230 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGCGCCACACTGTTCTCCAGT 0.458000 5 46 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34006136 34006136 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:34006136G>A ENST00000373381.4 - 60 9796 c.9620C>T c.(9619-9621)cCt>cTt p.P3207L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3183 Sushi 26. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAAACACTGAGGCAGCTCTCC 0.582000 28 59 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 124999891 124999891 + Missense_Mutation SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:124999891A>T ENST00000431078.1 + 3 666 c.302A>T c.(301-303)gAc>gTc p.D101V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 101 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGAAGCTCTGACTGGGTGACG 0.507000 3 18 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73990933 73990933 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr4:73990933G>T ENST00000358602.4 - 17 3447 c.3331C>A c.(3331-3333)Cac>Aac p.H1111N ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.H860N|ANKRD17_ENST00000509867.2_Missense_Mutation_p.H998N NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1111 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTGTCTCGGTGCTCTATACTA 0.398000 27 53 1.68575e-08 2.02525e-08 1 1 0 CALCRL 10203 broad.mit.edu 37 2 188223813 188223813 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:188223813C>A ENST00000409998.1 - 13 1667 c.886G>T c.(886-888)Ggc>Tgc p.G296C AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.G296C|CALCRL_ENST00000410068.1_Missense_Mutation_p.G296C|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 296 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) CAAATTGGGCCATGGATAATG 0.343000 26 114 6.32553e-13 7.98771e-13 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52425531 52425531 + Missense_Mutation SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr3:52425531A>T ENST00000420323.2 + 63 10225 c.9964A>T c.(9964-9966)Atg>Ttg p.M3322L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3387 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGACTTCAGGATGTACATCAC 0.597000 8 19 0 0 1 0 0 ALDH1A1 216 broad.mit.edu 37 9 75531945 75531945 + Missense_Mutation SNP A A G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr9:75531945A>G ENST00000297785.3 - 9 980 c.926T>C c.(925-927)aTt>aCt p.I309T ALDH1A1_ENST00000376939.1_3'UTR NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 309 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TTCCACAAAAATCCTGGATGC 0.443000 38 48 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145610329 145610329 + Silent SNP A A G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr5:145610329A>G ENST00000265271.5 + 6 865 c.699A>G c.(697-699)gcA>gcG p.A233A RBM27_ENST00000506502.1_Silent_p.A233A NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 233 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTCTGGGGCACAGTCTATTC 0.453000 18 46 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101779470 101779470 + Silent SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:101779470G>A ENST00000261637.4 + 61 8340 c.8166G>A c.(8164-8166)gaG>gaA p.E2722E NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2722 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AGGCTAATGAGAAAAGGGCAC 0.423000 12 55 0 0 1 0 0 SRP54-AS1 100506157 broad.mit.edu 37 14 35409214 35409214 + RNA SNP T T C rs1967723 by1000genomes TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr14:35409214T>C ENST00000556355.1 - 0 257 RP11-85K15.2_ENST00000555015.1_RNA CAACTTCTAATTCATCTCGCC 0.448000 4 79 0 0 1 0 0 CLDN25 644672 broad.mit.edu 37 11 113650978 113650978 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr11:113650978C>A ENST00000453129.2 + 1 510 c.461C>A c.(460-462)cCt>cAt p.P154H NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 154 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 GACAGCATCCCTGACATCATA 0.577000 12 50 0.0809354 0.081882 1 1 0 IGHV1-2 28474 broad.mit.edu 37 14 106452900 106452900 + RNA SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr14:106452900C>T ENST00000390594.2 - 0 185 AGAAGCCTTGCAGGAGACCTT 0.577000 21 101 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44915859 44915859 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:44915859C>A ENST00000429094.2 - 18 2603 c.2099G>T c.(2098-2100)tGc>tTc p.C700F NELL2_ENST00000333837.4_Missense_Mutation_p.C723F|NELL2_ENST00000437801.2_Missense_Mutation_p.C750F|NELL2_ENST00000549027.1_Missense_Mutation_p.C699F|NELL2_ENST00000395487.2_Missense_Mutation_p.C699F|NELL2_ENST00000551601.1_Missense_Mutation_p.C652F|NELL2_ENST00000452445.2_Missense_Mutation_p.C700F NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 700 VWFC 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TTGATGGAGGCACTGACTACT 0.458000 9 43 7.48243e-07 8.62973e-07 1 1 0 CASQ2 845 broad.mit.edu 37 1 116310962 116310962 + Silent SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:116310962T>C ENST00000261448.5 - 1 440 c.201A>G c.(199-201)caA>caG p.Q67Q CASQ2_ENST00000456138.2_Silent_p.Q67Q NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) 67 Q -> P (in Ref. 1; BAA23494). heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GGAACTGTTTTTGCGTGACCT 0.473000 30 87 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106865212 106865212 + Missense_Mutation SNP C C T rs138506167 TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr10:106865212C>T ENST00000369701.3 + 7 1378 c.1151C>T c.(1150-1152)cCt>cTt p.P384L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 384 integral to membrane neuropeptide receptor activity p.P384L(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGAAGTGGGCCTTTTGCCCGC 0.473000 32 76 0 0 1 0 0 RAPSN 5913 broad.mit.edu 37 11 47464341 47464341 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr11:47464341G>A ENST00000298854.2 - 3 770 c.557C>T c.(556-558)cCc>cTc p.P186L RAPSN_ENST00000529341.1_Missense_Mutation_p.P186L|RAPSN_ENST00000524487.1_Intron|RAPSN_ENST00000352508.3_Missense_Mutation_p.P186L NM_005055.4 NP_005046.2 Q13702 RAPSN_HUMAN receptor-associated protein of the synapse 186 synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(2) 12 CGCCTTGCAGGGGAAGAACAG 0.597000 27 31 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141771172 141771172 + Missense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:141771172C>T ENST00000389484.3 - 14 3304 c.2333G>A c.(2332-2334)aGa>aAa p.R778K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 778 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAGGGGTGGTCTTTCATGCCT 0.343000 TSP Lung(27;0.18) 13 59 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17025272 17025272 + Missense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:17025272C>T ENST00000443236.1 - 29 3995 c.3964G>A c.(3964-3966)Gtg>Atg p.V1322M NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1275 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GCAACCACCACGTAGGCTGTC 0.607000 12 34 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204924040 204924040 + Missense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:204924040C>T ENST00000367172.4 + 7 824 c.496C>T c.(496-498)Cct>Tct p.P166S NFASC_ENST00000401399.1_Missense_Mutation_p.P166S|NFASC_ENST00000404907.1_Missense_Mutation_p.P160S|NFASC_ENST00000539706.1_Missense_Mutation_p.P160S|NFASC_ENST00000404076.1_Missense_Mutation_p.P160S|NFASC_ENST00000403080.1_Missense_Mutation_p.P166S|NFASC_ENST00000360049.4_Missense_Mutation_p.P160S|NFASC_ENST00000513543.1_Missense_Mutation_p.P160S|NFASC_ENST00000367169.4_Missense_Mutation_p.P166S|NFASC_ENST00000338586.6_Missense_Mutation_p.P166S|NFASC_ENST00000367171.4_Missense_Mutation_p.P166S|NFASC_ENST00000338515.6_Missense_Mutation_p.P166S|NFASC_ENST00000339876.6_Missense_Mutation_p.P166S|NFASC_ENST00000367170.4_Missense_Mutation_p.P166S O94856 NFASC_HUMAN neurofascin 166 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAACCCCCCGCCTGGACTTCC 0.572000 40 208 0 0 1 0 0 OTUD6B 51633 broad.mit.edu 37 8 92083505 92083505 + Silent SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:92083505T>C ENST00000285420.4 + 2 411 c.312T>C c.(310-312)acT>acC p.T104T OTUD6B_ENST00000404789.3_5'UTR NM_016023.3 NP_057107.3 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 74 endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) AGCTGACTACTAAGGAGAATA 0.373000 108 65 0 0 1 0 0 RNASEH1 246243 broad.mit.edu 37 2 3597991 3597991 + Missense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:3597991C>T ENST00000315212.3 - 4 836 c.481G>A c.(481-483)Ggc>Agc p.G161S NM_002936.3 NP_002927.2 O60930 RNH1_HUMAN ribonuclease H1 161 RNase H. RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 13 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) CAGTAAACGCCGATTCCTGCT 0.517000 11 197 0 0 1 0 0 ACTL7A 10881 broad.mit.edu 37 9 111625066 111625066 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr9:111625066G>A ENST00000333999.3 + 1 464 c.464G>A c.(463-465)cGa>cAa p.R155Q NM_006687.2 NP_006678.1 Q9Y615 ACL7A_HUMAN actin-like 7A 155 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TATCTCTTCCGACAAGAGATG 0.502000 8 53 0 0 1 0 0 PDGFRL 5157 broad.mit.edu 37 8 17500265 17500265 + Silent SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:17500265T>C ENST00000541323.1 + 7 1528 c.1083T>C c.(1081-1083)aaT>aaC p.N361N PDGFRL_ENST00000398074.3_Silent_p.N361N|PDGFRL_ENST00000251630.6_Silent_p.N361N|PDGFRL_ENST00000523248.1_Intron NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 361 Ig-like C2-type 2. extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) CTGCTCAGAATCTTCAAGGAC 0.438000 10 43 0 0 1 0 0 PLGRKT 55848 broad.mit.edu 37 9 5361759 5361759 + Splice_Site SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr9:5361759C>A ENST00000223864.2 - 4 432 c.212_splice c.e4+1 p.G71_splice PLGRKT_ENST00000482696.1_5'UTR NM_018465.3 NP_060935.2 Q9HBL7 CI046_HUMAN plasminogen receptor, C-terminal lysine transmembrane protein 71 integral to membrane CAAACATACCCAGCTGTTAAA 0.373000 7 48 0.000157383 0.000173422 1 1 0 DMD 1756 broad.mit.edu 37 X 32662374 32662374 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chrX:32662374C>A ENST00000357033.4 - 11 1412 c.1206G>T c.(1204-1206)ttG>ttT p.L402F DMD_ENST00000288447.4_Missense_Mutation_p.L394F|DMD_ENST00000378677.2_Missense_Mutation_p.L398F NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 402 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.L397F(1)|p.L398F(1)|p.L402F(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCTTACTTCCCAATTGTAGAA 0.403000 41 14 2.47872e-24 3.54396e-24 1 1 0 PSMC6 5706 broad.mit.edu 37 14 53175517 53175517 + Missense_Mutation SNP G G C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr14:53175517G>C ENST00000445930.2 + 4 289 c.283G>C c.(283-285)Gtg>Ctg p.V95L PSMC6_ENST00000606149.1_Missense_Mutation_p.V81L P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 81 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) AAGATATGTTGTGGGTTGTCG 0.328000 15 52 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8242469 8242469 + Silent SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr4:8242469C>T ENST00000539824.1 + 18 3944 c.3570C>T c.(3568-3570)gcC>gcT p.A1190A SH3TC1_ENST00000245105.3_Silent_p.A1266A Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1266 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CGCTGGCAGCCGCCGTGGACC 0.612000 5 87 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244436 56244436 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr19:56244436G>T ENST00000332836.2 - 2 788 c.761C>A c.(760-762)cCa>cAa p.P254Q NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 254 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CAGGATAATTGGCATTGGCTG 0.408000 10 33 0.000442599 0.00048157 1 1 0 PLGLA 285189 broad.mit.edu 37 2 107007384 107007384 + RNA SNP T T A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:107007384T>A ENST00000484422.1 + 0 233 AGTGCAAGACTGGGAATGGAA 0.468000 10 13 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20384444 20384444 + Splice_Site SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:20384444C>T ENST00000302451.4 - 6 930 c.681_splice c.e6-1 p.G228_splice NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 228 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 ACAATTTTTCCCTTGTACAAA 0.343000 23 81 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14799125 14799125 + Missense_Mutation SNP C C A rs138177777 TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr3:14799125C>A ENST00000253697.3 + 13 2640 c.2188C>A c.(2188-2190)Ctg>Atg p.L730M C3orf20_ENST00000435614.1_Missense_Mutation_p.L608M|C3orf20_ENST00000412910.1_Missense_Mutation_p.L608M NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 730 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GCTCCAGTGGCTGCTGAACAC 0.652000 7 6 0.00198382 0.00209269 1 1 0 SENP6 26054 broad.mit.edu 37 6 76385162 76385162 + Missense_Mutation SNP T T G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr6:76385162T>G ENST00000370014.3 + 12 2023 c.1404T>G c.(1402-1404)gaT>gaG p.D468E SENP6_ENST00000327284.8_Missense_Mutation_p.D461E|SENP6_ENST00000447266.2_Missense_Mutation_p.D468E|SENP6_ENST00000370010.2_Missense_Mutation_p.D461E|SENP6_ENST00000541192.1_Missense_Mutation_p.D64E NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 468 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) TTTGTTTAGATTTTATCAAGA 0.274000 4 23 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17017717 17017717 + RNA SNP C C T rs12561804 by1000genomes TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:17017717C>T ENST00000492551.1 - 0 2010 NR_026567.1 GCTCACCTCTCTTCTTCCAGC 0.622000 3 30 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10677747 10677747 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr18:10677747G>T ENST00000302079.6 - 48 7549 c.7550C>A c.(7549-7551)cCa>cAa p.P2517Q PIEZO2_ENST00000538948.1_Missense_Mutation_p.P537Q|PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2605Q|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2580Q|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P372Q|PIEZO2_ENST00000581680.1_5'UTR Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2580 integral to membrane ion channel activity CACTTACACTGGTGTTTTTGA 0.343000 25 27 1.85244e-09 2.27285e-09 1 1 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29976122 29976122 + RNA SNP A A G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr6:29976122A>G ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA GACCAGGCCCACAGGGGATGG 0.607000 27 21 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36664947 36664947 + Missense_Mutation SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:36664947T>C ENST00000399881.3 + 6 672 c.635T>C c.(634-636)aTt>aCt p.I212T NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 212 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATCTTGCAAATTCTACGAGCC 0.423000 20 84 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23346382 23346382 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr20:23346382G>A ENST00000338121.5 + 2 1439 c.1362G>A c.(1360-1362)atG>atA p.M454I GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.M454I|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 454 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) AGACGCACATGAGGTACGCGG 0.652000 4 17 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). 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 plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 9 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 630919 630919 + Missense_Mutation SNP C C G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:630919C>G ENST00000321878.5 + 9 1637 c.1478C>G c.(1477-1479)tCc>tGc p.S493C PIGQ_ENST00000409527.2_Missense_Mutation_p.S493C|PIGQ_ENST00000026218.5_Missense_Mutation_p.S493C NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 493 Leu-rich. C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CTCATCAACTCCCTGCCGCTG 0.657000 21 125 0 0 1 0 0 GUSBP3 653188 broad.mit.edu 37 5 68902954 68902954 + RNA SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr5:68902954G>T ENST00000510264.2 + 0 29 ACTAAAGGACGGACAGAGCAT 0.393000 14 79 1.87028e-06 2.14277e-06 1 1 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 6 48 0 0 1 0 0 AGPAT1 10554 broad.mit.edu 37 6 32138254 32138254 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr6:32138254C>A ENST00000395499.1 - 4 1037 c.458G>T c.(457-459)gGg>gTg p.G153V AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375104.2_Missense_Mutation_p.G153V|AGPAT1_ENST00000375107.3_Missense_Mutation_p.G153V|AGPAT1_ENST00000336984.6_Missense_Mutation_p.G153V|AGPAT1_ENST00000412465.2_Missense_Mutation_p.G41V|AGPAT1_ENST00000395497.1_Missense_Mutation_p.G153V|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Missense_Mutation_p.G153V Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 153 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 GATGGCATCCCCCGTGCGCTT 0.622000 21 62 1.50039e-11 1.88092e-11 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81799909 81799909 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:81799909G>T ENST00000356860.3 - 4 649 c.311C>A c.(310-312)gCg>gAg p.A104E CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A104E|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A104E NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 104 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AACTTTCTCCGCTTCCAATGC 0.348000 53 105 3.28156e-27 4.85222e-27 1 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821806 5821806 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chrX:5821806C>A ENST00000381095.3 - 5 1540 c.913G>T c.(913-915)Ggc>Tgc p.G305C NLGN4X_ENST00000538097.1_Missense_Mutation_p.G305C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G305C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G305C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G325C NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 305 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 ATGTTGCAGCCGACCTTGTCT 0.572000 35 15 6.53348e-20 8.89993e-20 1 1 0 FHOD3 80206 broad.mit.edu 37 18 34320643 34320643 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr18:34320643G>A ENST00000257209.4 + 18 3198 c.3076G>A c.(3076-3078)Gat>Aat p.D1026N FHOD3_ENST00000445677.1_Missense_Mutation_p.D988N|FHOD3_ENST00000592128.1_Missense_Mutation_p.D5N|FHOD3_ENST00000590592.1_Missense_Mutation_p.D1201N|FHOD3_ENST00000359247.4_Missense_Mutation_p.D1009N|FHOD3_ENST00000591635.1_Missense_Mutation_p.D222N NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1009 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GATTCCCACCGATGAGGAGAA 0.473000 4 23 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43056995 43056995 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr20:43056995C>A ENST00000316099.3 + 9 1239 c.1150C>A c.(1150-1152)Cat>Aat p.H384N HNF4A_ENST00000457232.1_Missense_Mutation_p.H362N|HNF4A_ENST00000415691.1_Missense_Mutation_p.H384N NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 384 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGATGCACCCCATGCCCACCA 0.592000 15 54 1.67942e-08 2.02525e-08 1 1 0 GAS6 2621 broad.mit.edu 37 13 114523877 114523877 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr13:114523877G>T ENST00000357389.3 - 15 2278 c.2126C>A c.(2125-2127)aCg>aAg p.T709K GAS6_ENST00000450766.1_Missense_Mutation_p.T393K|GAS6_ENST00000355761.4_Missense_Mutation_p.T612K|GAS6_ENST00000418959.3_Missense_Mutation_p.T367K|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.T666K Q14393 GAS6_HUMAN growth arrest-specific 6 709 Laminin G-like 2. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GGAGTGGGCCGTGATGTCGCT 0.697000 8 37 2.17888e-05 2.4637e-05 1 1 0 C6 729 broad.mit.edu 37 5 41149524 41149524 + Silent SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr5:41149524G>T ENST00000263413.3 - 17 2706 c.2442C>A c.(2440-2442)ccC>ccA p.P814P C6_ENST00000337836.5_Silent_p.P814P NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 814 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACTTACAAGCGGGTGAAGTAA 0.423000 44 174 5.48756e-27 8.04532e-27 1 1 0 SLC4A10 57282 broad.mit.edu 37 2 162804198 162804198 + Silent SNP C C A rs141829716 by1000genomes TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:162804198C>A ENST00000375514.5 + 17 2456 c.2169C>A c.(2167-2169)acC>acA p.T723T SLC4A10_ENST00000446997.1_Silent_p.T742T|SLC4A10_ENST00000415876.2_Silent_p.T712T|SLC4A10_ENST00000272716.5_Silent_p.T712T|SLC4A10_ENST00000421911.1_Silent_p.T742T NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 742 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGTCAGCCACCCTGAAGCAGT 0.398000 45 77 5.78141e-17 7.52018e-17 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8460570 8460570 + Splice_Site SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr9:8460570T>C ENST00000381196.4 - 30 4259 c.3714_splice c.e30-1 p.K1239_splice PTPRD_ENST00000397606.3_Splice_Site_p.K818_splice|PTPRD_ENST00000355233.5_Splice_Site_p.K828_splice|PTPRD_ENST00000360074.4_Splice_Site_p.K1226_splice|PTPRD_ENST00000358503.5_Splice_Site_p.K1217_splice|PTPRD_ENST00000356435.5_Splice_Site_p.K1239_splice|PTPRD_ENST00000540109.1_Splice_Site_p.K1239_splice|PTPRD_ENST00000397611.3_Splice_Site_p.K825_splice|PTPRD_ENST00000537002.1_Splice_Site_p.K825_splice|PTPRD_ENST00000486161.1_Splice_Site_p.K828_splice|PTPRD_ENST00000397617.3_Splice_Site_p.K818_splice NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1239 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGCATACATCTTCTGAGGAAA 0.413000 TSP Lung(15;0.13) 12 33 0 0 1 0 0 RNF166 115992 broad.mit.edu 37 16 88767747 88767747 + Missense_Mutation SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:88767747T>C ENST00000312838.4 - 2 330 c.235A>G c.(235-237)Aag>Gag p.K79E RNF166_ENST00000562499.1_5'UTR|RNF166_ENST00000541206.2_5'UTR|RNF166_ENST00000567844.1_Intron NM_178841.3 NP_849163.1 Q96A37 RN166_HUMAN ring finger protein 166 79 intracellular zinc ion binding endometrium(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) TCCACCTTCTTGGGGTCGAAG 0.657000 12 15 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580193 37580193 + Missense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr20:37580193C>T ENST00000217429.4 + 4 919 c.878C>T c.(877-879)aCg>aTg p.T293M NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 263 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) TTTACATGGACGGATGGCAAA 0.398000 19 33 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620594 7620594 + Nonsense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr3:7620594C>A ENST00000486284.1 + 8 2275 c.2001C>A c.(1999-2001)tgC>tgA p.C667* GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Nonsense_Mutation_p.C667*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.C667*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.C667*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.C667* NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 667 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TGGGTATGTGCATCAGTTATG 0.458000 16 52 2.31682e-05 2.60266e-05 1 1 0 NOD2 64127 broad.mit.edu 37 16 50745748 50745748 + Missense_Mutation SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:50745748G>T ENST00000300589.2 + 4 2031 c.1926G>T c.(1924-1926)agG>agT p.R642S NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 642 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CAATGGCCAGGCTCCTGCCCA 0.592000 4 36 0.0215528 0.0223271 1 1 0 BAI3 577 broad.mit.edu 37 6 70070791 70070791 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr6:70070791C>A ENST00000370598.1 + 29 4447 c.3626C>A c.(3625-3627)gCa>gAa p.A1209E BAI3_ENST00000238918.8_Missense_Mutation_p.A415E|BAI3_ENST00000546190.1_Missense_Mutation_p.A173E NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1209 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CCTTGCCGAGCAGCCACAATA 0.358000 33 39 3.90053e-15 5.03576e-15 1 1 0 UACA 55075 broad.mit.edu 37 15 70960252 70960252 + Missense_Mutation SNP C C A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr15:70960252C>A ENST00000322954.6 - 16 2956 c.2771G>T c.(2770-2772)aGc>aTc p.S924I UACA_ENST00000560441.1_Missense_Mutation_p.S909I|UACA_ENST00000539319.1_Missense_Mutation_p.S815I|UACA_ENST00000379983.2_Missense_Mutation_p.S911I NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 924 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 CTCTGCCAGGCTGATGTACTC 0.378000 8 35 0.0381472 0.0388204 1 1 0 WDR60 55112 broad.mit.edu 37 7 158672379 158672379 + Missense_Mutation SNP A A T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:158672379A>T ENST00000407559.3 + 5 736 c.578A>T c.(577-579)cAg>cTg p.Q193L NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 193 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TTACAGCTGCAGTACGGAGAC 0.517000 10 17 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415206 10415206 + Missense_Mutation SNP T T A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr17:10415206T>A ENST00000226207.5 - 14 1460 c.1366A>T c.(1366-1368)Agg>Tgg p.R456W CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 456 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AAGTACTGCCTGGGCTGCTTG 0.478000 90 74 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46710517 46710517 + Missense_Mutation SNP T T C TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:46710517T>C ENST00000299138.7 - 8 950 c.892A>G c.(892-894)Ata>Gta p.I298V VPS35_ENST00000568642.1_5'UTR NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 298 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCAATGATTATGTTCTTCACA 0.348000 6 32 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75264652 75264652 + Missense_Mutation SNP C C T rs139288319 TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr10:75264652C>T ENST00000339859.4 - 21 4367 c.4267G>A c.(4267-4269)Gtt>Att p.V1423I USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000442133.3_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.V1273I|USP54_ENST00000422491.2_Intron|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|USP54_ENST00000394811.2_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.V1423I Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1423 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) TCTGAGACAACGGTGCCACTG 0.527000 7 80 0 0 1 0 0 THBD 7056 broad.mit.edu 37 20 23028868 23028868 + Missense_Mutation SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr20:23028868C>T ENST00000377103.2 - 1 1510 c.1274G>A c.(1273-1275)tGt>tAt p.C425Y NM_000361.2 NP_000352.1 P07204 TRBM_HUMAN thrombomodulin 425 EGF-like 5. blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) AGGGCACTCACAGCTAGCCTG 0.622000 17 32 0 0 1 0 0 NEUROG2 63973 broad.mit.edu 37 4 113436340 113436340 + Silent SNP G G T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr4:113436340G>T ENST00000313341.3 - 2 618 c.292C>A c.(292-294)Cga>Aga p.R98R NM_024019.3 NP_076924.1 Q9H2A3 NGN2_HUMAN neurogenin 2 98 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2) 12 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) TTGGCGCCTCGGGAGACGGCC 0.701000 10 28 4.68919e-08 5.59469e-08 1 1 0 NEU4 129807 broad.mit.edu 37 2 242755751 242755751 + Missense_Mutation SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:242755751G>A ENST00000391969.2 + 3 781 c.70G>A c.(70-72)Gtg>Atg p.V24M NEU4_ENST00000405370.1_Missense_Mutation_p.V24M|NEU4_ENST00000404257.1_Missense_Mutation_p.V36M|NEU4_ENST00000325935.6_Missense_Mutation_p.V37M|NEU4_ENST00000407683.1_Missense_Mutation_p.V24M NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 24 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GACCTACCGCGTGCCCTCGCT 0.697000 4 20 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111495203 111495203 + Silent SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:111495203G>A ENST00000369763.4 - 2 693 c.303C>T c.(301-303)gcC>gcT p.A101A LRIF1_ENST00000494675.1_5'UTR|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TTGAAGAACTGGCTGGCTGAA 0.373000 21 66 0 0 1 0 0 STX4 6810 broad.mit.edu 37 16 31045556 31045556 + Missense_Mutation SNP A A G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:31045556A>G ENST00000394998.1 + 4 479 c.136A>G c.(136-138)Att>Gtt p.I46V STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.I48V NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 48 intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 GGTCCGGACAATTCGGCAGAC 0.572000 80 86 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d 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 4 34 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237387 140237387 + Missense_Mutation SNP T T G rs251364 by1000genomes TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr5:140237387T>G ENST00000307360.5 + 1 1754 c.1754T>G c.(1753-1755)gTt>gGt p.V585G PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTCGGTGGTTGCGGGTCAC 0.662000 4 54 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15652113 15652113 + Silent SNP G G A TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:15652113G>A ENST00000262041.5 - 3 1223 c.814C>T c.(814-816)Ctg>Ttg p.L272L NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 272 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) ATTCCCGACAGCTCTGATGGG 0.532000 40 88 0 0 1 0 0 AKR7A2 8574 broad.mit.edu 37 1 19633590 19633591 + Frame_Shift_Ins INS - - AC TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr1:19633590_19633591insAC ENST00000235835.3 - 5 714_715 c.693_694insGT c.(691-696)ggtgctfs p.A232fs NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 232 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCAGTCAGCAGGCCCCCTGCGG 0.629 26 56 --- --- --- --- FASTKD1 79675 broad.mit.edu 37 2 170411659 170411659 + Frame_Shift_Del DEL C C - TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr2:170411659delC ENST00000453153.2 - 7 1535 c.1189delG c.(1189-1191)cgfs p.A397fs FASTKD1_ENST00000453929.2_Frame_Shift_Del_p.A397fs NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 397 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 CTAAGTTTCGCAAAAAACTCC 0.299 18 26 --- --- --- --- TIGD4 201798 broad.mit.edu 37 4 153691534 153691535 + Frame_Shift_Del DEL TT TT - TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr4:153691534_153691535delTT ENST00000304337.2 - 2 1442_1443 c.622_623delAA c.(622-624)gfs p.K208fs NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 208 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) TTTGCATAACTTTCCAACTGAA 0.366 48 68 --- --- --- --- ANXA6 309 broad.mit.edu 37 5 150512728 150512728 + Frame_Shift_Del DEL T T - TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr5:150512728delT ENST00000354546.5 - 9 794 c.567delA c.(565-567)gafs p.E189fs ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Frame_Shift_Del_p.E189fs|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Frame_Shift_Del_p.E157fs NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 189 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCATTTCAGTTCCCCTGCCT 0.517 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 2 4 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - - T TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr8:124140520_124140521insT ENST00000287380.1 + 14 1974_1975 c.e14-1 TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTTCTTACAGTTTTTTTTTCA 0.322 12 373 --- --- --- --- GPRC5A 9052 broad.mit.edu 37 12 13061511 13061512 + Frame_Shift_Ins INS - - G TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr12:13061511_13061512insG ENST00000014914.5 + 2 1218_1219 c.328_329insG c.(328-330)ctgfs p.L110fs GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 110 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity p.S110T(1)|p.S110F(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CATCTGCTTCTCCTGCCTGCTG 0.594 91 103 --- --- --- --- HYKK 123688 broad.mit.edu 37 15 78819900 78819904 + Frame_Shift_Del DEL GAGAA GAGAA - TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr15:78819900_78819904delGAGAA ENST00000566332.1 + 4 716_720 c.656_660delGAGAA c.(655-660)cfs p.RE219fs HYKK_ENST00000569878.1_Splice_Site_p.RE219_splice|HYKK_ENST00000408962.2_Splice_Site_p.RE219_splice|HYKK_ENST00000563233.1_Splice_Site_p.RE219_splice|HYKK_ENST00000388988.4_Splice_Site_p.RE219_splice hydroxylysine kinase AGTCATTTTCGAGAATGTGAGTATT 0.346 15 48 --- --- --- --- NDUFB10 4716 broad.mit.edu 37 16 2011189 2011191 + In_Frame_Del DEL TAC TAC - TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr16:2011189_2011191delTAC ENST00000543683.2 + 2 248_250 c.166_168delTAC c.(166-168)del p.Y58del NDUFB10_ENST00000268668.6_In_Frame_Del_p.Y58del|NDUFB10_ENST00000569148.1_In_Frame_Del_p.Y58del O96000 NDUBA_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 58 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) GAACAGGTATTACTACTACCACC 0.488 7 64 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-MP-A4T8-01A-11D-A24P-08 TCGA-MP-A4T8-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1ec349f7-c7b8-425b-8b0d-83b2fc3b110a 7b388562-497f-407c-bc16-67a2d659094d g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 5 7 --- --- --- ---