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 PTCH2 8643 broad.mit.edu 37 1 45293750 45293750 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:45293750G>A ENST00000447098.2 - 14 1834 c.1823C>T c.(1822-1824)gCc>gTc p.A608V PTCH2_ENST00000372192.3_Missense_Mutation_p.A608V NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 608 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CTGGCTGCTGGCTTCACAGTG 0.627 Basal Cell Nevus syndrome 16 172 --- --- --- --- KCNJ10 3766 broad.mit.edu 37 1 160011538 160011538 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:160011538G>A ENST00000368089.3 - 2 1011 c.785C>T c.(784-786)aCc>aTc p.T262I KCNJ10_ENST00000509700.1_Intron NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 262 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAGGGACTGGTCTCATCTAC 0.522 5 111 --- --- --- --- CNST 163882 broad.mit.edu 37 1 246810985 246810985 + Silent SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr1:246810985A>G ENST00000366513.4 + 9 1751 c.1482A>G c.(1480-1482)ggA>ggG p.G494G CNST_ENST00000366512.3_Silent_p.G494G|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 494 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 ACAGTGATGGAAAATCACCAC 0.473 8 78 --- --- --- --- CACNB4 785 broad.mit.edu 37 2 152732968 152732968 + Nonsense_Mutation SNP C C A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr2:152732968C>A ENST00000360283.6 - 4 648 c.391G>T c.(391-393)Gaa>Taa p.E131* CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*|CACNB4_ENST00000539935.1_Nonsense_Mutation_p.E165*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147* O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 165 SH3. axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) CTTTTTTGTTCTTGCTGGATC 0.408 10 16 --- --- --- --- SAG 6295 broad.mit.edu 37 2 234237163 234237163 + Silent SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr2:234237163C>T ENST00000409110.1 + 8 782 c.552C>T c.(550-552)gcC>gcT p.A184A SAG_ENST00000449594.2_Silent_p.A50A NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 184 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TACAGCATGCCCCACTTGAGA 0.587 7 140 --- --- --- --- IL17RC 84818 broad.mit.edu 37 3 9962224 9962224 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr3:9962224G>A ENST00000295981.3 + 6 946 c.728G>A c.(727-729)cGa>cAa p.R243Q IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q|IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q NM_153461.3 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 243 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGTGAGGTACGAATCTGGTCC 0.592 6 28 --- --- --- --- SACM1L 22908 broad.mit.edu 37 3 45745007 45745007 + Missense_Mutation SNP C C A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr3:45745007C>A ENST00000389061.5 + 2 314 c.110C>A c.(109-111)tCc>tAc p.S37Y SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 37 Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GACCGTGTGTCCACAGAGGTT 0.353 36 71 --- --- --- --- EXOC1 55763 broad.mit.edu 37 4 56762964 56762964 + Missense_Mutation SNP G G C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr4:56762964G>C ENST00000381295.2 + 16 2383 c.2035G>C c.(2035-2037)Gaa>Caa p.E679Q EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q|EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 679 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TGCTGAATTTGAAGAATTTGC 0.368 3 63 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37017250 37017250 + Missense_Mutation SNP C C G rs149451089 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr5:37017250C>G ENST00000282516.8 + 24 5405 c.4906C>G c.(4906-4908)Cgc>Ggc p.R1636G NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1636 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATCTATAGAACGCATTTTAAA 0.333 8 34 --- --- --- --- NSA2 10412 broad.mit.edu 37 5 74069862 74069862 + Missense_Mutation SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr5:74069862C>T ENST00000296802.5 + 5 1061 c.692C>T c.(691-693)aCa>aTa p.T231I NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 231 rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 GGCCTTGTGACACAAGGAGGC 0.383 10 148 --- --- --- --- AKAP12 9590 broad.mit.edu 37 6 151672836 151672836 + Missense_Mutation SNP G G C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr6:151672836G>C ENST00000402676.2 + 4 3550 c.3310G>C c.(3310-3312)Gag>Cag p.E1104Q AKAP12_ENST00000253332.1_Missense_Mutation_p.E1104Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1104 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGCAAAAACTGAGCCTTTTAC 0.502 3 51 --- --- --- --- KIAA1429 25962 broad.mit.edu 37 8 95549369 95549369 + Missense_Mutation SNP C C G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr8:95549369C>G ENST00000297591.5 - 4 352 c.277G>C c.(277-279)Gat>Cat p.D93H KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 93 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTATTCTCATCATATTCCAGG 0.333 4 145 --- --- --- --- PLCZ1 89869 broad.mit.edu 37 12 18872504 18872504 + Missense_Mutation SNP G G C rs140550681 TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:18872504G>C ENST00000266505.7 - 5 693 c.430C>G c.(430-432)Cta>Gta p.L144V PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 144 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTAAACAGTAGACATTCACGT 0.264 16 40 --- --- --- --- CALCOCO1 57658 broad.mit.edu 37 12 54118947 54118947 + Missense_Mutation SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:54118947T>C ENST00000548263.1 - 2 128 c.80A>G c.(79-81)aAc>aGc p.N27S CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 27 N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding p.N27S(1) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 CACCTTGGTGTTGGGGATGTA 0.542 13 83 --- --- --- --- CYP27B1 1594 broad.mit.edu 37 12 58159257 58159257 + Missense_Mutation SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:58159257G>A ENST00000228606.4 - 3 621 c.412C>T c.(412-414)Cgc>Tgc p.R138C CYP27B1_ENST00000546496.1_5'UTR NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 138 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) AGGAGACTGCGGAGCCTTTGC 0.672 OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 14 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100452768 100452768 + Silent SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:100452768A>G ENST00000279907.7 - 14 2499 c.2287T>C c.(2287-2289)Ttg>Ctg p.L763L UHRF1BP1L_ENST00000545232.2_Silent_p.L413L NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 763 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TTCCGCTTCAATCGGCCAGCC 0.408 49 127 --- --- --- --- MYBPC1 4604 broad.mit.edu 37 12 102072013 102072013 + Silent SNP T T A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:102072013T>A ENST00000549145.1 + 28 3361 c.3261T>A c.(3259-3261)ccT>ccA p.P1087P MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000550270.1_Silent_p.P1074P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000361466.2_Silent_p.P1081P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000452455.2_Silent_p.P1074P Q00872 MYPC1_HUMAN myosin binding protein C, slow type 1074 Ig-like C2-type 7. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GAGGAAATCCTAAGGTACCAT 0.398 53 124 --- --- --- --- SERPINE3 647174 broad.mit.edu 37 13 51918393 51918393 + Missense_Mutation SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr13:51918393A>G ENST00000524365.1 + 5 887 c.262A>G c.(262-264)Agg>Ggg p.R88G SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G|SERPINE3_ENST00000521255.1_Missense_Mutation_p.R88G A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 88 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 CACAGACAAAAGGGTGAAAGA 0.488 3 40 --- --- --- --- POTEM 641455 broad.mit.edu 37 14 20019998 20019998 + Missense_Mutation SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr14:20019998T>C ENST00000551509.1 - 1 274 c.223A>G c.(223-225)Agc>Ggc p.S75G NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 75 endometrium(4)|kidney(1)|lung(4) 9 CTCTTGCCGCTCCCCCTGCAC 0.587 5 382 --- --- --- --- THTPA 79178 broad.mit.edu 37 14 24026160 24026160 + Missense_Mutation SNP A A G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr14:24026160A>G ENST00000288014.6 + 1 930 c.194A>G c.(193-195)aAa>aGa p.K65R RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R Q9BU02 THTPA_HUMAN thiamine triphosphatase 65 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity large_intestine(1)|prostate(2) 3 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) TGGGAGCTCAAATGTCCTGGA 0.572 15 27 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64604565 64604565 + Missense_Mutation SNP A A C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr14:64604565A>C ENST00000357395.3 + 80 15006 c.3862A>C c.(3862-3864)Aaa>Caa p.K1288Q ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.K4903Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4903 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAACGAAGGCAAACAGTTGGT 0.408 28 74 --- --- --- --- UACA 55075 broad.mit.edu 37 15 70959376 70959376 + Missense_Mutation SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr15:70959376T>C ENST00000322954.6 - 16 3832 c.3647A>G c.(3646-3648)aAa>aGa p.K1216R UACA_ENST00000560441.1_Missense_Mutation_p.K1201R|UACA_ENST00000379983.2_Missense_Mutation_p.K1203R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1216 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 CTCTAATTTTTTTAATGCTTG 0.338 18 61 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963805 27963805 + Missense_Mutation SNP G G T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr17:27963805G>T ENST00000269033.3 - 14 1513 c.1362C>A c.(1360-1362)aaC>aaA p.N454K SSH2_ENST00000540801.1_Missense_Mutation_p.N481K|RP11-68I3.2_ENST00000581474.1_RNA NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 454 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCCATAGTTTGTTATGCCGCT 0.448 12 142 --- --- --- --- ERBB2 2064 broad.mit.edu 37 17 37881014 37881014 + Silent SNP T T C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr17:37881014T>C ENST00000406381.2 + 22 2763 c.2253T>C c.(2251-2253)taT>taC p.Y751Y ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y|ERBB2_ENST00000269571.5_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 781 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GCTCCCCATATGTCTCCCGCC 0.597 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 27 65 --- --- --- --- POTEC 388468 broad.mit.edu 37 18 14542963 14542963 + Missense_Mutation SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr18:14542963C>T ENST00000358970.5 - 1 182 c.183G>A c.(181-183)atG>atA p.M61I POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 61 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AACACTTGCCCATCTTGCTCC 0.577 36 316 --- --- --- --- TYK2 7297 broad.mit.edu 37 19 10468472 10468472 + Nonsense_Mutation SNP C C A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr19:10468472C>A ENST00000525621.1 - 17 2915 c.2434G>T c.(2434-2436)Gag>Tag p.E812* TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812* NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 812 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) AGAGGGGCCTCTCCGTCAAAG 0.642 10 21 --- --- --- --- LRFN3 79414 broad.mit.edu 37 19 36431457 36431457 + Missense_Mutation SNP C C G TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr19:36431457C>G ENST00000588831.1 + 3 2184 c.1130C>G c.(1129-1131)gCt>gGt p.A377G LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 377 Ig-like. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GAGGCCACAGCTGCTGTGGAG 0.662 8 29 --- --- --- --- TSSK2 23617 broad.mit.edu 37 22 19119476 19119476 + Missense_Mutation SNP G G C TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr22:19119476G>C ENST00000399635.2 + 1 1156 c.564G>C c.(562-564)caG>caC p.Q188H DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 188 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) AGGTGCTGCAGAGCATCCCCT 0.602 34 96 --- --- --- --- CABIN1 23523 broad.mit.edu 37 22 24460518 24460518 + Silent SNP G G A TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr22:24460518G>A ENST00000398319.2 + 15 2290 c.1905G>A c.(1903-1905)ctG>ctA p.L635L CABIN1_ENST00000405822.2_Silent_p.L585L|CABIN1_ENST00000263119.5_Silent_p.L635L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 635 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGCAGGCCCTGGAGAACTATG 0.532 9 329 --- --- --- --- KRT18 3875 broad.mit.edu 37 12 53344130 53344156 + In_Frame_Del DEL GACAATGCCCGCATCGTTCTGCAGATT GACAATGCCCGCATCGTTCTGCAGATT - rs59979366 byFrequency TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT ENST00000550600.1 + 3 490_516 c.436_462delGACAATGCCCGCATCGTTCTGCAGATT c.(436-462)gacaatgcccgcatcgttctgcagattdel p.DNARIVLQI146del KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388835.3_In_Frame_Del_p.DNARIVLQI146del P05783 K1C18_HUMAN keratin 18 146 Coil 1B.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 AAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCC 0.498 7 759 --- --- --- --- PDZD4 57595 broad.mit.edu 37 X 153072793 153072793 + Frame_Shift_Del DEL C C - TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0042c94-9802-4593-9dd8-4352538c6bc7 39351351-11d3-499d-8fec-7bf34f38d3c5 g.chrX:153072793delC ENST00000164640.4 - 3 519 c.328delG c.(328-330)gcgfs p.A110fs PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs|PDZD4_ENST00000475140.1_5'UTR NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 110 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATAAACTCCGCCGGGTCATAA 0.667 9 18 --- --- --- ---