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 CYP19A1 1588 broad.mit.edu 37 15 51504750 51504750 + Missense_Mutation SNP C C G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:51504750C>G ENST00000396402.1 - 9 1183 c.1030G>C c.(1030-1032)Gac>Cac p.D344H CYP19A1_ENST00000260433.2_Missense_Mutation_p.D344H|CYP19A1_ENST00000396404.4_Missense_Mutation_p.D344H|CYP19A1_ENST00000559878.1_Missense_Mutation_p.D344H|RP11-108K3.1_ENST00000559909.1_lincRNA NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 344 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) ATCTTTATGTCTCTCTCACCT 0.373000 22 13 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122775078 122775078 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:122775078G>A ENST00000227349.2 + 3 1087 c.790G>A c.(790-792)Gga>Aga p.G264R C11orf63_ENST00000307257.6_Missense_Mutation_p.G264R|C11orf63_ENST00000531316.1_Missense_Mutation_p.G264R NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 264 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GCTCACTTTGGGATTACCCAC 0.443000 52 63 0 0 1 0 0 USP16 10600 broad.mit.edu 37 21 30422476 30422476 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:30422476C>T ENST00000334352.4 + 17 2401 c.2170C>T c.(2170-2172)Cct>Tct p.P724S USP16_ENST00000535828.1_Missense_Mutation_p.P353S|USP16_ENST00000399976.2_Missense_Mutation_p.P724S|USP16_ENST00000399975.3_Missense_Mutation_p.P723S NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 724 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 AGATTTGGCTCCTTTTTGCAC 0.368000 12 15 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55501547 55501547 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:55501547C>T ENST00000543010.1 + 9 2667 c.2524C>T c.(2524-2526)Ctg>Ttg p.L842L NLRP2_ENST00000263437.6_Silent_p.L839L|NLRP2_ENST00000448584.2_Silent_p.L842L|NLRP2_ENST00000538819.1_Silent_p.L818L|NLRP2_ENST00000427260.2_Silent_p.L819L|NLRP2_ENST00000339757.7_Silent_p.L820L|NLRP2_ENST00000391721.4_Silent_p.L818L|NLRP2_ENST00000537859.1_Silent_p.L820L NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 842 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CAAGTGCTTTCTGCAGAGGTT 0.517000 17 11 0 0 1 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14977506 14977506 + Silent SNP C C T rs146832860 byFrequency TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:14977506C>T ENST00000453695.2 - 6 504 c.60G>A c.(58-60)gcG>gcA p.A20A DCLRE1C_ENST00000378258.1_Silent_p.A20A|DCLRE1C_ENST00000378246.2_Silent_p.A25A|DCLRE1C_ENST00000378289.4_Silent_p.A140A|DCLRE1C_ENST00000378249.1_Silent_p.A25A|DCLRE1C_ENST00000378278.2_Silent_p.A140A|DCLRE1C_ENST00000357717.2_Silent_p.A25A|DCLRE1C_ENST00000378254.1_Silent_p.A20A|DCLRE1C_ENST00000396817.2_Silent_p.A20A|DCLRE1C_ENST00000378255.1_Silent_p.A20A NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 140 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 CTTCTCCTTGCGCCAATCTGA 0.403000 Non-homologous end-joining 63 11 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121767700 121767700 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:121767700G>A ENST00000261367.7 + 8 2788 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E347K|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E454K|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E41K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E407K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E454K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 407 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GATGGTGAGCGAAACAGAAGC 0.393000 9 25 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17349706 17349706 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:17349706G>A ENST00000242057.4 + 2 855 c.212G>A c.(211-213)aGg>aAg p.R71K NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 71 Helix-loop-helix motif. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TCAGTTCTTAGGCTCAGCGTC 0.403000 16 33 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872986 55872986 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:55872986C>T ENST00000313503.1 + 1 468 c.468C>T c.(466-468)tcC>tcT p.S156S NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TTATAGACTCCTTTGTCAACG 0.443000 HNSCC(53;0.14) 35 55 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24358111 24358111 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:24358111G>A ENST00000005284.3 + 2 1470 c.268G>A c.(268-270)Gaa>Aaa p.E90K NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 90 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TGCTGACTACGAACAGGACAC 0.562000 8 46 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176983946 176983946 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:176983946C>T ENST00000367654.2 - 8 1541 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K ASTN1_ENST00000367657.3_Missense_Mutation_p.E502K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E502K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.E502K O14525 ASTN1_HUMAN astrotactin 1 510 cell migration|neuron cell-cell adhesion integral to membrane p.E502K(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCCCCCATTCGTTCCGAATG 0.493000 171 188 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642822 127642822 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:127642822G>A ENST00000405109.1 + 2 1385 c.918G>A c.(916-918)cgG>cgA p.R306R KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.R306R Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 306 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 CTGTATCACGGAAAACCTATT 0.418000 15 37 0 0 1 0 0 ITGB5 3693 broad.mit.edu 37 3 124515335 124515335 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:124515335G>A ENST00000296181.4 - 10 1889 c.1593C>T c.(1591-1593)aaC>aaT p.N531N ITGB5_ENST00000488466.1_5'UTR NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 531 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) AGGAGCACTGGTTGCAGCTGC 0.607000 52 39 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321563 56321563 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:56321563G>A ENST00000443188.1 - 5 1123 c.413C>T c.(412-414)tCt>tTt p.S138F NLRP11_ENST00000360133.3_Missense_Mutation_p.S138F|NLRP11_ENST00000589093.1_Missense_Mutation_p.S138F|NLRP11_ENST00000592953.1_Missense_Mutation_p.S39F|NLRP11_ENST00000589824.2_Missense_Mutation_p.S138F NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 138 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATAGCTGGTAGAATCATAGGC 0.368000 8 15 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100645221 100645221 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:100645221C>T ENST00000471714.1 - 2 314 c.205G>A c.(205-207)Gga>Aga p.G69R ABI3BP_ENST00000495063.1_Missense_Mutation_p.G69R|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.G69R Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 69 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 CTGCCATATCCCAGGAGAAGA 0.468000 14 42 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2525366 2525366 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:2525366G>A ENST00000288709.6 - 19 1967 c.1727C>T c.(1726-1728)cCt>cTt p.P576L MMEL1_ENST00000378412.3_Missense_Mutation_p.P585L|MMEL1_ENST00000502556.1_Missense_Mutation_p.P428L NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 585 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GATCCCGGCAGGGAATACTGT 0.597000 10 18 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991268 35991268 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:35991268G>A ENST00000274278.3 - 1 432 c.75C>T c.(73-75)atC>atT p.I25I UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.I25I|UGT3A1_ENST00000503189.1_Silent_p.I25I|UGT3A1_ENST00000333811.4_Intron NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 25 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATATTGTCAGGATTTTGGCAG 0.592000 23 109 0 0 1 0 0 EIF3G 8666 broad.mit.edu 37 19 10227829 10227829 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:10227829G>A ENST00000253108.4 - 6 378 c.336C>T c.(334-336)ccC>ccT p.P112P NM_003755.3 NP_003746.2 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, subunit G 112 cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) TGGGTCCGGGGGGGTCAAACT 0.602000 9 14 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67547092 67547092 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:67547092G>A ENST00000310421.4 - 3 3571 c.3313C>T c.(3313-3315)Cag>Tag p.Q1105* NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 1105 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TTTTTTCGCTGGGCCTCAACC 0.448000 52 39 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38950520 38950520 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:38950520C>T ENST00000302328.3 - 9 1465 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K SCN11A_ENST00000456224.3_Missense_Mutation_p.E423K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E423K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E423K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 423 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGCTGGGCTTCCTGAAACATC 0.512000 29 60 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526585 84526585 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:84526585A>T ENST00000360700.4 + 10 3061 c.2175A>T c.(2173-2175)aaA>aaT p.K725N ZNF711_ENST00000542798.1_Missense_Mutation_p.K521N|ZNF711_ENST00000395402.1_Missense_Mutation_p.K687N|ZNF711_ENST00000373165.3_Missense_Mutation_p.K679N|ZNF711_ENST00000276123.3_Missense_Mutation_p.K679N Q9Y462 ZN711_HUMAN zinc finger protein 711 679 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TGAAATGTAAAAGGTGCAAGA 0.368000 19 47 0 0 1 0 0 ADCK4 79934 broad.mit.edu 37 19 41206337 41206337 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:41206337G>A ENST00000324464.3 - 11 1214 c.913C>T c.(913-915)Ccc>Tcc p.P305S ADCK4_ENST00000243583.6_Missense_Mutation_p.P264S|ADCK4_ENST00000450541.1_Missense_Mutation_p.P264S NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 305 Protein kinase. integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CGGAAGAAGGGGTCATTTGCC 0.632000 11 8 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179426007 179426007 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179426007G>A ENST00000589042.1 - 326 85076 c.84852C>T c.(84850-84852)atC>atT p.I28284I TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.I19219I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I19344I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.I19411I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I26643I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.I25716I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26643 Ig-like 131. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTATCCTGTGATCTTAGCTC 0.393000 30 36 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585431 82585431 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:82585431C>T ENST00000423517.2 - 5 5175 c.4838G>A c.(4837-4839)cGa>cAa p.R1613Q PCLO_ENST00000333891.8_Missense_Mutation_p.R1613Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1544 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCTACTTTTTCGAGTCAGTCG 0.418000 91 167 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604595 160604595 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:160604595C>T ENST00000302035.6 - 3 857 c.508G>A c.(508-510)Gac>Aac p.D170N SLAMF1_ENST00000355199.3_Missense_Mutation_p.D170N|SLAMF1_ENST00000235739.5_Missense_Mutation_p.D170N|SLAMF1_ENST00000538290.1_Missense_Mutation_p.D170N NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 170 Ig-like C2-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GCCACATGGTCCCCCTTCTCC 0.582000 44 30 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542497 28542497 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:28542497C>T ENST00000452236.2 - 3 2602 c.1985G>A c.(1984-1986)aGa>aAa p.R662K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 662 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 AGGCAAACTTCTTTGAATCTC 0.443000 28 109 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74705593 74705593 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:74705593C>T ENST00000294064.4 + 2 1061 c.134C>T c.(133-135)cCt>cTt p.P45L NEU3_ENST00000531619.1_Missense_Mutation_p.P45L|NEU3_ENST00000531509.1_Missense_Mutation_p.P45L|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000544263.1_Missense_Mutation_p.P12L|NEU3_ENST00000534628.1_Missense_Mutation_p.P45L|NEU3_ENST00000532963.1_Intron|NEU3_ENST00000545272.1_Intron NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 45 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 TTCAACAGCCCTCTGTTCCGG 0.522000 17 32 0 0 1 0 0 IL10RA 3587 broad.mit.edu 37 11 117859097 117859097 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:117859097G>A ENST00000227752.3 + 2 188 c.67_splice c.e2-1 p.G23_splice IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_Splice_Site_p.R3_splice|IL10RA_ENST00000533700.1_3'UTR NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 23 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) TTCTCCCCAGGGACAGAGCTG 0.532000 20 23 0 0 1 0 0 OR52H1 390067 broad.mit.edu 37 11 5566690 5566690 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:5566690G>A ENST00000322653.4 - 1 89 c.64C>T c.(64-66)Ctg>Ttg p.L22L HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCCCTACCAGAATGAAGGGT 0.463000 10 27 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142511672 142511672 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:142511672G>A ENST00000273482.6 + 8 1733 c.1342G>A c.(1342-1344)Gat>Aat p.D448N TRPC1_ENST00000476941.1_Missense_Mutation_p.D482N NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 482 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TTAGTTTCATGATTTTGCTGA 0.358000 25 15 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164271441 164271441 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:164271441G>A ENST00000515560.1 + 4 1538 c.16G>A c.(16-18)Gac>Aac p.D6N NPY5R_ENST00000338566.3_Missense_Mutation_p.D6N|NPY5R_ENST00000506953.1_Missense_Mutation_p.D6N Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 6 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TTTAGAGCTCGACGAGTATTA 0.363000 18 29 0 0 1 0 0 SIAH3 283514 broad.mit.edu 37 13 46357905 46357905 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:46357905G>A ENST00000400405.2 - 2 529 c.423C>T c.(421-423)atC>atT p.I141I NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 141 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 CCAGGAAGACGATCTCGGCTC 0.617000 23 34 0 0 1 0 0 WBP5 51186 broad.mit.edu 37 X 102612855 102612855 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:102612855G>A ENST00000372661.3 + 3 554 c.243G>A c.(241-243)agG>agA p.R81R WBP5_ENST00000372656.3_Silent_p.R81R NM_001006612.1|NM_016303.2 NP_001006613.1|NP_057387.1 Q9UHQ7 WPB5_HUMAN WW domain binding protein 5 81 breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1) 8 ATGAGATAAGGAGAGTCAGAA 0.343000 23 29 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70897032 70897032 + Missense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:70897032T>A ENST00000393567.2 - 68 11675 c.11525A>T c.(11524-11526)gAa>gTa p.E3842V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3842 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGAGGTATCTTCTGAGACCCA 0.478000 17 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179393863 179393863 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179393863C>T ENST00000589042.1 - 360 106839 c.106615G>A c.(106615-106617)Gaa>Aaa p.E35539K TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26474K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26599K|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26666K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E33898K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32971K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33898 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGGAAATTTCCTCTTGGACA 0.378000 4 18 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42059304 42059304 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:42059304C>T ENST00000219905.7 + 24 9205 c.9024C>T c.(9022-9024)ctC>ctT p.L3008L MGA_ENST00000566586.1_Silent_p.L2799L|MGA_ENST00000570161.1_Silent_p.L3008L|MGA_ENST00000545763.1_Silent_p.L2799L|MGA_ENST00000389936.4_Silent_p.L2969L NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2969 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTCAGAGTCTCAAGGTGATGC 0.488000 12 45 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101717755 101717755 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:101717755G>A ENST00000254190.3 - 3 2722 c.2247C>T c.(2245-2247)gtC>gtT p.V749V CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 749 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GATCACAAAAGACAGGATGGT 0.532000 16 27 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198257053 198257053 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:198257053G>A ENST00000335508.5 - 25 3980 c.3889C>T c.(3889-3891)Cgt>Tgt p.R1297C NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 1297 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) AGTTCATAACGAATATAGGTG 0.328000 Mis myelodysplastic syndrome 14 20 0 0 1 0 0 C1orf85 112770 broad.mit.edu 37 1 156263909 156263909 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:156263909A>G ENST00000362007.1 - 4 724 c.698T>C c.(697-699)cTg>cCg p.L233P C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.L147P NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 233 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) CAGCCCAAACAGGGAACGGTT 0.632000 42 62 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52503971 52503971 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:52503971A>G ENST00000261839.7 - 35 4413 c.4252T>C c.(4252-4254)Tcc>Ccc p.S1418P NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1418 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TTCATGAGGGACTTCAGCATG 0.517000 61 45 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197029607 197029607 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:197029607C>T ENST00000367412.1 - 5 737 c.694G>A c.(694-696)Gaa>Aaa p.E232K NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 232 Sushi 4. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TCTCCTTCTTCATAGGTTTGC 0.294000 27 12 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30825328 30825328 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:30825328C>T ENST00000383096.3 - 15 1656 c.1474G>A c.(1474-1476)Gat>Aat p.D492N CCDC178_ENST00000402325.1_Missense_Mutation_p.D492N|CCDC178_ENST00000403303.1_Missense_Mutation_p.D492N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D492N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D492N|CCDC178_ENST00000300227.8_Missense_Mutation_p.D492N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.D492N coiled-coil domain containing 178 AGATGTTTATCATTCTTTAAC 0.289000 11 7 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83636071 83636071 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:83636071C>T ENST00000566620.1 + 8 1263 c.973C>T c.(973-975)Ccc>Tcc p.P325S CDH13_ENST00000428848.3_Missense_Mutation_p.P286S|CDH13_ENST00000268613.10_Missense_Mutation_p.P372S NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 325 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TCTGGAAAATCCCAAGTATGA 0.448000 60 117 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117180229 117180229 + Silent SNP C C T rs75528968 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:117180229C>T ENST00000003084.6 + 8 1077 c.945C>T c.(943-945)ttC>ttT p.F315F CFTR_ENST00000454343.1_Silent_p.F315F NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 315 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCTCAGGGTTCTTTGTGGTGT 0.398000 Cystic Fibrosis 21 47 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169837077 169837077 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:169837077G>A ENST00000335742.7 + 17 3581 c.2224G>A c.(2224-2226)Gaa>Aaa p.E742K PALLD_ENST00000512127.1_Missense_Mutation_p.E518K|PALLD_ENST00000507735.1_Missense_Mutation_p.E413K|PALLD_ENST00000505667.1_Missense_Mutation_p.E917K|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.E900K Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 1124 Pro-rich. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CAGTGGAGACGAAAATGAACC 0.418000 Pancreatic Cancer, Familial Clustering of 14 28 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 14063198 14063198 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:14063198T>C ENST00000261643.3 + 5 706 c.629T>C c.(628-630)tTt>tCt p.F210S COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Missense_Mutation_p.F18S NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 210 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TTACAGTTTTTTGAGGTGCCA 0.333000 11 10 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143089673 143089673 + Splice_Site SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:143089673T>A ENST00000367603.2 - 6 5930 c.5187_splice c.e6-1 p.M1730_splice HIVEP2_ENST00000367604.1_Splice_Site_p.M1730_splice|HIVEP2_ENST00000012134.2_Splice_Site_p.M1730_splice NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1730 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TCAGGTTTCATCTGTAAGACA 0.398000 10 13 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55889939 55889939 + Missense_Mutation SNP C C G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:55889939C>G ENST00000313472.3 + 1 91 c.91C>G c.(91-93)Cta>Gta p.L31V NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TCTGTTTATGCTATTTCTCCT 0.458000 37 56 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115395159 115395159 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:115395159G>A ENST00000393780.3 + 3 906 c.438G>A c.(436-438)gaG>gaA p.E146E GAP43_ENST00000305124.6_Silent_p.E110E NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 110 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CTCCTTCCGAGGAGAAGAAGG 0.622000 5 21 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182542525 182542525 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:182542525G>A ENST00000295108.3 - 2 1520 c.1063C>T c.(1063-1065)Cat>Tat p.H355Y CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 355 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CTCTAATCATGAAATATGGCA 0.498000 31 131 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41539213 41539213 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:41539213G>A ENST00000400454.1 - 16 3427 c.2950C>T c.(2950-2952)Cct>Tct p.P984S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 984 Fibronectin type-III 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGACCATCAGGAGCTGTAAGG 0.522000 26 16 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131624167 131624167 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:131624167G>A ENST00000512055.1 - 6 2247 c.121C>T c.(121-123)Ctt>Ttt p.L41F CPNE4_ENST00000512332.1_Missense_Mutation_p.L59F|CPNE4_ENST00000429747.1_Missense_Mutation_p.L41F|CPNE4_ENST00000502818.1_Missense_Mutation_p.L59F|CPNE4_ENST00000511604.1_Missense_Mutation_p.L41F Q96A23 CPNE4_HUMAN copine IV 41 C2 1. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GGTTTGGAAAGGGCATCTCTG 0.517000 21 27 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096661 167096661 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:167096661G>A ENST00000361200.2 + 6 2459 c.2293G>A c.(2293-2295)Gat>Aat p.D765N DUSP27_ENST00000443333.1_Missense_Mutation_p.D765N|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.D765N Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 765 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CTGCCTGGGGGATGACCAAGT 0.567000 33 24 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151770083 151770083 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:151770083C>T ENST00000535741.1 - 26 4699 c.4226G>A c.(4225-4227)aGg>aAg p.R1409K LRBA_ENST00000510413.1_Missense_Mutation_p.R1409K|LRBA_ENST00000357115.3_Missense_Mutation_p.R1409K|LRBA_ENST00000507224.1_Missense_Mutation_p.R1409K P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1409 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GCTAATTAGCCTCTGCAAAAA 0.358000 54 61 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20229965 20229965 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:20229965G>A ENST00000418063.2 + 4 1714 c.1602G>A c.(1600-1602)gcG>gcA p.A534A ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 534 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ATACTGGAGCGAAACCCTACA 0.413000 7 15 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42828498 42828498 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:42828498C>T ENST00000315005.3 + 14 1863 c.1725C>T c.(1723-1725)acC>acT p.T575T DBF4B_ENST00000393547.2_Intron NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 575 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) ATCCGTGTACCCTTGCCTTCC 0.557000 21 78 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51589769 51589769 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:51589769G>A ENST00000389243.4 - 8 1172 c.233C>T c.(232-234)tCc>tTc p.S78F POU6F1_ENST00000333640.10_Missense_Mutation_p.S78F|POU6F1_ENST00000550824.1_Missense_Mutation_p.S78F Q14863 PO6F1_HUMAN POU class 6 homeobox 1 78 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CTTAGCAGGGGACTCAGGTGT 0.667000 7 3 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901535 13901535 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:13901535C>T ENST00000265104.4 - 14 1982 c.1878G>A c.(1876-1878)aaG>aaA p.K626K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 626 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCACAAAATCTTTCCAGCGA 0.498000 Kartagener syndrome 12 16 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16282829 16282829 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:16282829G>A ENST00000205557.7 - 13 1667 c.1638C>T c.(1636-1638)gtC>gtT p.V546V ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 546 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCACCAGTGCGACCTGGGGGG 0.587000 16 55 0 0 1 0 0 GSKIP 51527 broad.mit.edu 37 14 96848745 96848745 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:96848745C>T ENST00000556095.1 + 3 1973 c.161C>T c.(160-162)tCg>tTg p.S54L GSKIP_ENST00000438650.1_Missense_Mutation_p.S54L|GSKIP_ENST00000554182.1_Missense_Mutation_p.S54L|GSKIP_ENST00000555181.1_Missense_Mutation_p.S54L NM_001271904.1 NP_001258833.1 GSK3B interacting protein ATGTTTGTCTCGAAAAGCCTG 0.438000 28 7 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75672358 75672358 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:75672358G>A ENST00000370855.5 - 24 2207 c.2094C>T c.(2092-2094)ttC>ttT p.F698F SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Silent_p.F568F NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 698 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TAGGGGTTACGAAGTAGGGTT 0.413000 71 36 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24416597 24416597 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:24416597C>T ENST00000330966.7 - 13 1609 c.1447G>A c.(1447-1449)Gat>Aat p.D483N MYOM3_ENST00000374434.3_Missense_Mutation_p.D482N|MYOM3_ENST00000329601.7_Missense_Mutation_p.D482N|MYOM3_ENST00000475306.1_5'UTR Q5VTT5 MYOM3_HUMAN myomesin 3 482 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TTTCCCAGATCAAAGGGGATC 0.572000 12 28 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31146210 31146210 + Missense_Mutation SNP T T G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:31146210T>G ENST00000304166.4 + 16 1608 c.1319T>G c.(1318-1320)gTg>gGg p.V440G ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V419G|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V496G|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V468G NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 440 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 AGCAGTGGGGTGAATGGGGGC 0.592000 24 22 0 0 1 0 0 KCNT1 57582 broad.mit.edu 37 9 138683967 138683967 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:138683967C>T ENST00000298480.5 + 32 3805 c.3731C>T c.(3730-3732)tCg>tTg p.S1244L KCNT1_ENST00000371757.2_Missense_Mutation_p.S1223L|KCNT1_ENST00000491806.2_Missense_Mutation_p.S1209L|KCNT1_ENST00000488444.2_Missense_Mutation_p.S1223L|KCNT1_ENST00000487664.1_Missense_Mutation_p.S1199L|KCNT1_ENST00000263604.3_Missense_Mutation_p.S1218L|KCNT1_ENST00000490355.2_Missense_Mutation_p.S1222L|KCNT1_ENST00000486577.2_Missense_Mutation_p.S1201L B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 1223 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CACAAGCTGTCGTCCTGCAAC 0.667000 9 0 0 0 1 0 0 SKA1 220134 broad.mit.edu 37 18 47917627 47917627 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:47917627C>T ENST00000285116.3 + 6 794 c.583C>T c.(583-585)Cac>Tac p.H195Y SKA1_ENST00000488454.1_Missense_Mutation_p.H44Y|SKA1_ENST00000398452.2_Missense_Mutation_p.H195Y|SKA1_ENST00000417656.2_Missense_Mutation_p.H149Y NM_001039535.2|NM_145060.3 NP_001034624.1|NP_659497.1 Q96BD8 SKA1_HUMAN spindle and kinetochore associated complex subunit 1 195 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 AAATCTCTATCACAGATTTAT 0.313000 13 21 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2908719 2908719 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:2908719C>T ENST00000254695.8 + 15 1347 c.1257C>T c.(1255-1257)ccC>ccT p.P419P RAP1GAP2_ENST00000540393.2_Silent_p.P400P|RAP1GAP2_ENST00000542807.1_Silent_p.P419P|RAP1GAP2_ENST00000366401.4_Silent_p.P404P NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 419 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 TGCCCAGTCCCCCCGTTTTCC 0.567000 21 79 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89480404 89480404 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:89480404C>T ENST00000336596.2 + 13 2466 c.2241C>T c.(2239-2241)ctC>ctT p.L747L EPHA3_ENST00000494014.1_Silent_p.L747L NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 747 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ACCGAGACCTCGCTGCTCGGA 0.493000 TSP Lung(6;0.00050) 13 12 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45725604 45725604 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:45725604C>T ENST00000297323.7 + 13 2139 c.2117C>T c.(2116-2118)tCc>tTc p.S706F NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 706 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CCCAACAGTTCCCTGGTGGTC 0.672000 23 31 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101581202 101581202 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:101581202C>T ENST00000536262.2 - 7 1483 c.925G>A c.(925-927)Gat>Aat p.D309N NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 309 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTCCAAGGATCACAGTCATGG 0.433000 19 2 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223438058 223438058 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:223438058C>T ENST00000343846.3 - 4 1271 c.638G>A c.(637-639)gGa>gAa p.G213E SUSD4_ENST00000366878.4_Missense_Mutation_p.G213E|SUSD4_ENST00000344029.6_Missense_Mutation_p.G213E|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.G53E Q5VX71 SUSD4_HUMAN sushi domain containing 4 213 Sushi 3. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) AAGTTTAAATCCGGGAAAGCA 0.512000 39 40 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2934718 2934718 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:2934718G>A ENST00000314531.4 - 4 499 c.407C>T c.(406-408)cCt>cTt p.P136L NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTTCGGTAGGGTAACTCTT 0.502000 19 77 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598590 179598590 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179598590C>T ENST00000589042.1 - 53 15750 c.15526G>A c.(15526-15528)Gat>Aat p.D5176N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D4859N|TTN_ENST00000342992.6_Missense_Mutation_p.D3932N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4859 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAATCAAATCATCTACTTTC 0.408000 19 29 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42227424 42227424 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:42227424G>A ENST00000541110.1 - 9 2550 c.1982C>T c.(1981-1983)gCc>gTc p.A661V TRERF1_ENST00000372922.4_Missense_Mutation_p.A641V|TRERF1_ENST00000372917.4_Missense_Mutation_p.A558V|TRERF1_ENST00000340840.2_Missense_Mutation_p.A558V|TRERF1_ENST00000354325.2_Missense_Mutation_p.A558V Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 641 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGGCTCCTCGGCTTTGGGCAC 0.592000 35 32 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262296 45262296 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:45262296C>T ENST00000303230.4 - 8 2457 c.2400G>A c.(2398-2400)ctG>ctA p.L800L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 800 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GTCTGGAAATCAGAGTGGACA 0.657000 10 32 0 0 1 0 0 URAD 646625 broad.mit.edu 37 13 28562733 28562733 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:28562733G>A ENST00000332715.4 - 1 41 c.42C>T c.(40-42)ttC>ttT p.F14F NM_001105577.1 NP_001099047.1 ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase ACACATCCACGAATTCTCCAA 0.512000 21 33 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36653556 36653556 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:36653556C>T ENST00000405375.1 + 3 709 c.474C>T c.(472-474)atC>atT p.I158I CDKN1A_ENST00000448526.2_Silent_p.I192I|CDKN1A_ENST00000244741.5_Silent_p.I158I|CDKN1A_ENST00000373711.2_Silent_p.I158I NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 158 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GCCGGCTGATCTTCTCCAAGA 0.577000 151 136 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126319984 126319984 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:126319984C>T ENST00000394329.3 + 2 5234 c.5221C>T c.(5221-5223)Cca>Tca p.P1741S FAT4_ENST00000335110.5_Missense_Mutation_p.P39S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1741 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACCAGTATTTCCAACGGACAT 0.443000 45 42 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150377862 150377862 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:150377862G>A ENST00000295910.6 - 14 1861 c.1809C>T c.(1807-1809)atC>atT p.I603I FAM194A_ENST00000491361.1_Silent_p.I457I NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 603 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ACAGGCGACGGATCTTTATTA 0.418000 50 41 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129148820 129148820 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:129148820C>T ENST00000540052.1 + 3 2116 c.2072C>T c.(2071-2073)cCc>cTc p.P691L BCORL1_ENST00000359304.2_Missense_Mutation_p.P691L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P691L|BCORL1_ENST00000303743.5_Missense_Mutation_p.P691L NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 691 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GTCATCTTTCCCGAGATCGTG 0.597000 24 42 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82455959 82455959 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:82455959C>T ENST00000423517.2 - 18 14698 c.14361G>A c.(14359-14361)ctG>ctA p.L4787L PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.L4787L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4649 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGTCACCTCCAGTGTTTTCT 0.353000 34 28 0 0 1 0 0 SNORA71C 677839 broad.mit.edu 37 20 37058369 37058369 + RNA SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:37058369A>T ENST00000364642.1 - 0 77 NR_003017.2 AACACGGGGAAGTGCTCTCGG 0.602000 34 42 0 0 1 0 0 GLDN 342035 broad.mit.edu 37 15 51687050 51687050 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:51687050G>A ENST00000335449.6 + 5 616 c.560G>A c.(559-561)gGa>gAa p.G187E GLDN_ENST00000396399.2_Missense_Mutation_p.G63E NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 187 Collagen-like 1. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane p.G187E(1) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GGAGCTGCAGGAAATCCAGGG 0.488000 8 12 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 91 28 0 0 1 0 0 EHD3 30845 broad.mit.edu 37 2 31457548 31457548 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:31457548G>A ENST00000322054.5 + 1 346 c.61G>A c.(61-63)Gtg>Atg p.V21M EHD3_ENST00000541626.1_Missense_Mutation_p.V21M NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 21 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) TTTCCAGACGGTGAGTGAGGG 0.652000 28 47 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1343462 1343462 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:1343462C>T ENST00000389851.4 + 3 696 c.249C>T c.(247-249)ttC>ttT p.F83F UVSSA_ENST00000507531.1_Silent_p.F83F|UVSSA_ENST00000511216.1_Silent_p.F83F NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 83 TTTCCAACTTCCAGGAGTTCC 0.647000 16 24 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358358 10358358 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:10358358C>T ENST00000255381.2 - 21 2445 c.2335G>A c.(2335-2337)Gaa>Aaa p.E779K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 779 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCTCGCATTTCCTCTAGAGTT 0.418000 16 35 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152469313 152469313 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:152469313G>A ENST00000367255.5 - 137 25444 c.24843C>T c.(24841-24843)atC>atT p.I8281I SYNE1_ENST00000341594.5_Silent_p.I7893I|SYNE1_ENST00000265368.4_Silent_p.I8281I|SYNE1_ENST00000423061.1_Silent_p.I8210I|SYNE1_ENST00000356820.4_Silent_p.I2805I|SYNE1_ENST00000448038.1_Silent_p.I8210I|SYNE1_ENST00000539504.1_Silent_p.I436I|SYNE1_ENST00000354674.4_Silent_p.I436I|SYNE1_ENST00000347037.5_5'UTR NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8281 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACTCCAGGGGGATGGAGTCCA 0.597000 HNSCC(10;0.0054) 9 15 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138633289 138633289 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:138633289C>T ENST00000218099.2 + 6 596 c.589C>T c.(589-591)Cct>Tct p.P197S F9_ENST00000394090.2_Missense_Mutation_p.P159S NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 197 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) GACTGTTTTTCCTGATGTGGA 0.388000 26 36 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237880530 237880530 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:237880530G>A ENST00000366574.2 + 72 10673 c.10356G>A c.(10354-10356)atG>atA p.M3452I RYR2_ENST00000360064.6_Missense_Mutation_p.M3450I|RYR2_ENST00000542537.1_Missense_Mutation_p.M3436I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3452 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAAGAAAATGAAGCGCAAAG 0.483000 10 8 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10466207 10466207 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:10466207C>T ENST00000382483.3 - 4 5624 c.5401G>A c.(5401-5403)Gga>Aga p.G1801R NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1801 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCAGTTTCTCCCCTTTCACTT 0.577000 48 133 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108029159 108029159 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:108029159C>T ENST00000280758.5 + 12 3257 c.2729C>T c.(2728-2730)tCg>tTg p.S910L BTBD11_ENST00000357167.4_Missense_Mutation_p.S447L|BTBD11_ENST00000490090.2_Missense_Mutation_p.S910L|BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000420571.2_Missense_Mutation_p.S791L NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 910 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AAACAGACCTCGCGCTTGGGT 0.552000 22 5 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6026709 6026709 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:6026709G>A ENST00000265849.7 - 11 1792 c.1687C>T c.(1687-1689)Cga>Tga p.R563* PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Nonsense_Mutation_p.R457*|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 563 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding p.R563*(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GGCAAAACTCGAAATTTACAT 0.408000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 67 95 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023395 76023395 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:76023395C>T ENST00000393004.2 - 5 2374 c.2153G>A c.(2152-2154)cGa>cAa p.R718Q FILIP1_ENST00000370020.1_Missense_Mutation_p.R619Q|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R718Q Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 718 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTTTAAGTCTCGACTTTTAGC 0.403000 33 37 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196643044 196643044 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:196643044G>A ENST00000367429.4 + 3 542 c.302G>A c.(301-303)gGa>gAa p.G101E CFH_ENST00000439155.2_Missense_Mutation_p.G101E|CFH_ENST00000359637.2_Missense_Mutation_p.G101E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 101 Sushi 2. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CTTACAGGAGGAAATGTGTTT 0.343000 24 33 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582551 82582551 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:82582551G>A ENST00000423517.2 - 5 8055 c.7718C>T c.(7717-7719)tCc>tTc p.S2573F PCLO_ENST00000333891.8_Missense_Mutation_p.S2573F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2504 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAGGGATTTGGAAAATCTTGG 0.423000 42 75 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54785292 54785292 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:54785292C>T ENST00000218436.6 - 8 1244 c.1215G>A c.(1213-1215)acG>acA p.T405T NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 405 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CACTGGGGGTCGTCACGCCGG 0.602000 17 26 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101196777 101196777 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:101196777G>A ENST00000294728.2 + 6 1329 c.1228G>A c.(1228-1230)Gag>Aag p.E410K VCAM1_ENST00000347652.2_Missense_Mutation_p.E318K|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.E348K NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 410 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TCCAGAAATCGAGATGAGTGG 0.428000 23 8 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4732873 4732873 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:4732873C>T ENST00000302640.8 + 31 4179 c.3829C>T c.(3829-3831)Cag>Tag p.Q1277* ITPR1_ENST00000357086.4_Nonsense_Mutation_p.Q1283*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.Q1277*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.Q1283*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.Q1268*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.Q1292* NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1292 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GAACAATTTCCAGCTTTGCAG 0.448000 16 6 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114280739 114280739 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:114280739G>A ENST00000369604.1 - 5 807 c.324C>T c.(322-324)ttC>ttT p.F108F PHTF1_ENST00000369600.1_Intron|PHTF1_ENST00000369596.2_Intron|PHTF1_ENST00000447664.2_Silent_p.F108F|PHTF1_ENST00000357783.2_Silent_p.F108F|PHTF1_ENST00000393357.2_Silent_p.F108F|PHTF1_ENST00000369598.1_Silent_p.F108F Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 108 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCTTGCATGAAATAAAGTA 0.343000 21 6 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107594984 107594984 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:107594984G>A ENST00000374736.3 - 12 1774 c.1380C>T c.(1378-1380)gcC>gcT p.A460A NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 460 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CGATGTCTTGGGCTGTCCAAT 0.493000 16 16 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423853 56423853 + Missense_Mutation SNP C C T rs150988752 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:56423853C>T ENST00000588751.1 - 5 1354 c.1330G>A c.(1330-1332)Gat>Aat p.D444N NLRP13_ENST00000342929.3_Missense_Mutation_p.D444N Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 444 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GACTGGAGATCGTAATACCTC 0.483000 9 33 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102822852 102822852 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:102822852G>A ENST00000260302.3 - 5 716 c.688C>T c.(688-690)Ctt>Ttt p.L230F MMP13_ENST00000340273.4_Missense_Mutation_p.L230F NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 230 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GAGTGGTCAAGACCTAAGGAG 0.458000 21 40 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947008 57947008 + Missense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:57947008T>A ENST00000335397.3 + 3 408 c.92T>A c.(91-93)tTt>tAt p.F31Y NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TTCCTCTTGTTTTTATTTATG 0.443000 25 31 0 0 1 0 0 GALNT16 57452 broad.mit.edu 37 14 69805411 69805411 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:69805411C>T ENST00000337827.4 + 10 1338 c.1011C>T c.(1009-1011)atC>atT p.I337I GALNT16_ENST00000448469.3_Silent_p.I337I|GALNT16_ENST00000553669.1_Silent_p.I337I NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GTCTGGAGATCGTCCCCTGCA 0.582000 32 4 0 0 1 0 0 PARP15 165631 broad.mit.edu 37 3 122340368 122340368 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:122340368G>A ENST00000483793.1 + 6 803 c.763G>A c.(763-765)Gga>Aga p.G255R PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.G147R|PARP15_ENST00000464300.2_Missense_Mutation_p.G381R|PARP15_ENST00000493645.1_Missense_Mutation_p.G147R Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) TGTTCCTGGGGGAAAAGATGT 0.418000 12 41 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125103757 125103757 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:125103757C>T ENST00000522917.1 + 34 4691 c.4485C>T c.(4483-4485)caC>caT p.H1495H FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.H1495H NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1495 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCTACTTTCACCCTGGGAAAA 0.453000 41 40 0 0 1 0 0 FAM117A 81558 broad.mit.edu 37 17 47788683 47788683 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:47788683G>A ENST00000240364.2 - 8 1375 c.1296C>T c.(1294-1296)ttC>ttT p.F432F RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Silent_p.F160F NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 432 Pro-rich. haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 GCCATGGCTCGAATGGCAGTG 0.637000 14 9 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44488909 44488909 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:44488909G>A ENST00000425708.2 - 7 2595 c.2254C>T c.(2254-2256)Cct>Tct p.P752S ZNF445_ENST00000396077.2_Missense_Mutation_p.P752S P59923 ZN445_HUMAN zinc finger protein 445 752 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CTGCTCTGAGGAACCTGGAAC 0.493000 15 31 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483100 59483100 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:59483100C>T ENST00000312828.3 - 2 1696 c.597G>A c.(595-597)gtG>gtA p.V199V NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 199 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CACAGGATATCACAGTGAAGC 0.547000 34 26 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100490111 100490111 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:100490111G>A ENST00000302913.4 - 3 1535 c.1397C>T c.(1396-1398)tCc>tTc p.S466F ACHE_ENST00000411582.1_Missense_Mutation_p.S466F|ACHE_ENST00000241069.5_Missense_Mutation_p.S466F|ACHE_ENST00000428317.1_Missense_Mutation_p.S466F|ACHE_ENST00000412389.1_Missense_Mutation_p.S466F|ACHE_ENST00000419336.2_Missense_Mutation_p.S378F NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 466 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) GGAGAGCGTGGAAGCACGGTG 0.652000 58 36 0 0 1 0 0 RAB1A 5861 broad.mit.edu 37 2 65316200 65316200 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:65316200G>A ENST00000409784.3 - 5 483 c.293C>T c.(292-294)tCc>tTc p.S98F RAB1A_ENST00000409751.1_Missense_Mutation_p.S66F|RAB1A_ENST00000356214.7_Missense_Mutation_p.S66F|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000409892.1_Missense_Mutation_p.S34F NM_004161.4 NP_004152.1 P62820 RAB1A_HUMAN RAB1A, member RAS oncogene family 98 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum|Golgi apparatus GTP binding|GTPase activity endometrium(1)|kidney(1)|lung(3)|prostate(1) 6 ATTATTGAAGGACTCCTAAAA 0.348000 4 7 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2966418 2966418 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:2966418C>T ENST00000396946.4 - 14 2165 c.1762G>A c.(1762-1764)Gaa>Aaa p.E588K NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 588 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGTCTTCTTCGACTGTGCTG 0.567000 Mis DLBCL 11 28 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119708453 119708453 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:119708453C>T ENST00000404115.3 - 2 421 c.20G>A c.(19-21)gGa>gAa p.G7E CUL4B_ENST00000486604.1_5'UTR NM_003588.3 NP_003579.3 Q13620 CUL4B_HUMAN cullin 4B 7 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ATCTCCTGATCCAGATGACTG 0.388000 46 58 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698178 111698178 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:111698178C>T ENST00000340433.2 + 1 452 c.222C>T c.(220-222)ttC>ttT p.F74F NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 74 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTCAGAGTTCCTCACTCAGG 0.483000 26 27 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110454425 110454425 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:110454425G>A ENST00000260283.4 - 14 1736 c.1452C>T c.(1450-1452)ctC>ctT p.L484L ARHGAP20_ENST00000524756.1_Silent_p.L461L|ARHGAP20_ENST00000529591.1_Silent_p.L27L|ARHGAP20_ENST00000357139.3_Silent_p.L458L|ARHGAP20_ENST00000528829.1_Silent_p.L448L|ARHGAP20_ENST00000527598.1_Silent_p.L448L|ARHGAP20_ENST00000533353.1_Silent_p.L458L NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 484 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GATACCTTAGGAGAACAACAT 0.378000 7 11 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2074765 2074765 + Missense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:2074765T>A ENST00000280665.6 - 5 560 c.481A>T c.(481-483)Att>Ttt p.I161F DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Missense_Mutation_p.I35F|DCP1B_ENST00000397173.4_Missense_Mutation_p.I59F NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 161 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) ATTCGTAAAATGTCTACTTCT 0.448000 18 17 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3889456 3889456 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:3889456G>A ENST00000520002.1 - 4 1136 c.581C>T c.(580-582)tCg>tTg p.S194L CSMD1_ENST00000539096.1_Missense_Mutation_p.S194L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S194L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S194L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S194L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S194L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S194L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 194 Sushi 1. 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) GAAGTCCCACGATGCACCATT 0.542000 12 5 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539576 56539576 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:56539576G>A ENST00000390649.3 + 7 1977 c.1977G>A c.(1975-1977)ctG>ctA p.L659L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 659 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCGTTCCCCTGGGGGTGAAGC 0.582000 15 57 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96277043 96277043 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:96277043C>T ENST00000347108.3 - 6 1383 c.951G>A c.(949-951)tcG>tcA p.S317S DZIP1_ENST00000376829.2_Silent_p.S317S|DZIP1_ENST00000361396.2_Silent_p.S317S|DZIP1_ENST00000361156.3_Silent_p.S317S Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 317 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CTGAATTCTTCGAAGTTAATT 0.348000 5 9 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40033394 40033394 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:40033394C>T ENST00000373233.3 - 37 8164 c.7987G>A c.(7987-7989)Gac>Aac p.D2663N CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2663 D -> G (in Ref. 1; AAK56405). chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TTGGGGTTGTCCCCCTTTGTC 0.597000 48 48 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876145 2876145 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:2876145G>A ENST00000520002.1 - 53 8441 c.7886C>T c.(7885-7887)cCc>cTc p.P2629L CSMD1_ENST00000537824.1_Missense_Mutation_p.P2628L|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2629L|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2629 Sushi 17. 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) GCCATTTGGGGGAAAGGAAAG 0.433000 20 52 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45929115 45929115 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:45929115G>A ENST00000323084.4 - 10 1786 c.1721C>T c.(1720-1722)gCc>gTc p.A574V TSPEAR_ENST00000397916.1_Missense_Mutation_p.A506V|TSPEAR-AS1_ENST00000451035.1_RNA NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 574 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CTTGACAAAGGCCTGCGCGGT 0.562000 6 14 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531334 140531334 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:140531334C>T ENST00000231136.1 + 1 1496 c.1496C>T c.(1495-1497)tCt>tTt p.S499F PCDHB6_ENST00000543635.1_Missense_Mutation_p.S363F NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 499 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGCCCCTCTCTTCCCTGGTC 0.652000 95 13 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43674267 43674267 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:43674267G>A ENST00000599812.1 - 6 1362 c.1267C>T c.(1267-1269)Cct>Tct p.P423S PSG5_ENST00000342951.6_Missense_Mutation_p.P330S|PSG5_ENST00000407356.1_Missense_Mutation_p.P330S|PSG5_ENST00000407568.1_Missense_Mutation_p.P152S|PSG5_ENST00000366175.3_Missense_Mutation_p.P330S Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 330 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TTAAGGAGAGGAAGACGTCCT 0.448000 37 28 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33681052 33681052 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:33681052G>A ENST00000336934.5 - 13 3183 c.3067C>T c.(3067-3069)Ccc>Tcc p.P1023S STARD13_ENST00000399365.3_Missense_Mutation_p.P905S|STARD13_ENST00000255486.4_Missense_Mutation_p.P1015S NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 1023 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) ATTCCTTTGGGCAAATCAGTT 0.512000 18 18 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154516521 154516521 + Missense_Mutation SNP G G C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:154516521G>C ENST00000368482.4 + 9 1424 c.586G>C c.(586-588)Gcg>Ccg p.A196P TDRD10_ENST00000368480.3_Missense_Mutation_p.A196P|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 196 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CCGTGGGGAGGCGGGGCTGCT 0.617000 15 102 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1568274 1568274 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:1568274G>A ENST00000426508.2 - 30 4488 c.4125C>T c.(4123-4125)atC>atT p.I1375I IFT140_ENST00000361339.5_Silent_p.I569I NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1375 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) AGACGTCCCCGATGCGGATGG 0.597000 14 32 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65396095 65396095 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:65396095C>T ENST00000355703.3 + 23 4271 c.3732C>T c.(3730-3732)ttC>ttT p.F1244F NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1244 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 AGCTGCGTTTCGTGCTGACCT 0.602000 17 19 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142622605 142622605 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:142622605C>T ENST00000442623.1 - 8 1404 c.1141G>A c.(1141-1143)Gga>Aga p.G381R TRPV5_ENST00000265310.1_Intron Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 0 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CTCTCTCATCCCCTTCTGAGG 0.537000 6 28 0 0 1 0 0 ASB9 140462 broad.mit.edu 37 X 15266923 15266923 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:15266923G>A ENST00000546332.1 - 7 1186 c.703C>T c.(703-705)Cct>Tct p.P235S ASB9_ENST00000380488.4_Missense_Mutation_p.P235S|ASB9_ENST00000380485.3_Missense_Mutation_p.P235S|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.P225S NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 235 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) AGCTCCACAGGACGTTTGCCT 0.567000 36 36 0 0 1 0 0 TFPI 7035 broad.mit.edu 37 2 188361636 188361636 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:188361636C>T ENST00000233156.3 - 3 585 c.291G>A c.(289-291)ctG>ctA p.L97L TFPI_ENST00000409676.1_Silent_p.L97L|TFPI_ENST00000339091.4_Silent_p.L97L|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.L97L|AC007319.1_ENST00000453517.1_RNA NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 97 BPTI/Kunitz inhibitor 1. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) TGCACTCTTCCAGACTTTCAA 0.348000 13 23 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064783 63064783 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:63064783G>A ENST00000544661.1 + 4 478 c.50G>A c.(49-51)cGa>cAa p.R17Q SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.R172Q|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 172 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGGTTTGGGCGAAGATTTATT 0.403000 21 25 0 0 1 0 0 STOM 2040 broad.mit.edu 37 9 124111428 124111428 + Silent SNP A A C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:124111428A>C ENST00000286713.2 - 5 512 c.495T>G c.(493-495)tcT>tcG p.S165S STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Silent_p.S114S NM_004099.4 NP_004090.4 P27105 STOM_HUMAN stomatin 165 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) CTTCTCTGTCAGAGAGGATCT 0.463000 14 1 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177608368 177608368 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:177608368C>T ENST00000280193.2 - 6 1533 c.1118G>A c.(1117-1119)gGa>gAa p.G373E RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 373 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GAACTTCTTTCCTTTTAACAA 0.368000 51 81 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42379497 42379497 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:42379497C>T ENST00000290472.3 - 3 350 c.e3+1 NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CGGGCCTTCACCTTGACCTGA 0.567000 36 97 0 0 1 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195692 18195692 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:18195692G>A ENST00000314254.3 + 1 1309 c.889G>A c.(889-891)Gac>Aac p.D297N RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 297 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGCTCTGCAGGACAAGCCTGA 0.552000 18 15 0 0 1 0 0 ALKBH7 84266 broad.mit.edu 37 19 6374516 6374516 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:6374516C>T ENST00000245812.3 + 3 807 c.419C>T c.(418-420)cCc>cTc p.P140L ALKBH7_ENST00000596657.1_5'UTR|ALKBH7_ENST00000599849.1_Missense_Mutation_p.P79L NM_032306.3 NP_115682.1 Q9BT30 ALKB7_HUMAN alkB, alkylation repair homolog 7 (E. coli) 140 extracellular region|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.P140R(1) breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CTCCTGTCTCCCAGCGTTATG 0.652000 32 28 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185161232 185161232 + Splice_Site SNP G G C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:185161232G>C ENST00000265026.3 + 4 993 c.e4-1 MAP3K13_ENST00000424227.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|MAP3K13_ENST00000535426.1_Splice_Site|MAP3K13_ENST00000446828.1_Splice_Site NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TTTCTTGGAAGGGGTGTTTGT 0.358000 5 26 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51487951 51487951 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:51487951G>A ENST00000340438.4 + 1 1471 c.1229G>A c.(1228-1230)gGa>gAa p.G410E NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 410 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) TGGTACACTGGATTACCATTT 0.413000 25 32 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36080333 36080333 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:36080333G>A ENST00000360731.3 + 4 1630 c.1630G>A c.(1630-1632)Gag>Aag p.E544K CLIC6_ENST00000349499.2_Missense_Mutation_p.E526K Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 544 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GAATAAGATCGAGGAGTTCTT 0.483000 15 25 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040692 107040692 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:107040692C>T ENST00000409886.3 - 20 3818 c.3731G>A c.(3730-3732)gGg>gAg p.G1244E RGPD3_ENST00000304514.7_Missense_Mutation_p.G1244E NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1244 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TAATGTGGGCCCAGTGTTTTC 0.443000 41 171 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187510313 187510313 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:187510313G>A ENST00000441802.2 - 27 13409 c.13200C>T c.(13198-13200)ttC>ttT p.F4400F NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4400 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CATAGTTGGGGAACTCTTGTA 0.488000 HNSCC(5;0.00058) 63 64 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158565372 158565372 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:158565372G>A ENST00000367102.2 - 7 709 c.568C>T c.(568-570)Cgc>Tgc p.R190C SERAC1_ENST00000367101.1_Missense_Mutation_p.R190C|SERAC1_ENST00000367104.3_Missense_Mutation_p.R190C Q96JX3 SRAC1_HUMAN serine active site containing 1 190 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) AGAAAAAAGCGAAGATCACTC 0.328000 6 19 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148059941 148059941 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:148059941G>A ENST00000370460.2 + 18 4005 c.3526G>A c.(3526-3528)Gac>Aac p.D1176N AFF2_ENST00000370457.5_Missense_Mutation_p.D1141N|AFF2_ENST00000342251.3_Missense_Mutation_p.D1143N|AFF2_ENST00000286437.5_Missense_Mutation_p.D817N NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1176 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GCTGAAGAAGGACCATGCTAT 0.353000 35 48 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40852457 40852457 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:40852457G>A ENST00000254691.5 + 3 1222 c.1023G>A c.(1021-1023)agG>agA p.R341R CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 341 apoptosis|regulation of apoptosis intracellular p.R341S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TGACCGCTAGGGATTCAATCC 0.453000 7 20 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258567 56258567 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:56258567G>A ENST00000327216.2 - 1 304 c.280C>T c.(280-282)Cct>Tct p.P94S NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) AGACAGGCAGGATAGGAAATG 0.463000 19 19 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117531026 117531026 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:117531026C>T ENST00000254029.3 + 7 1542 c.1147C>T c.(1147-1149)Cct>Tct p.P383S WDR44_ENST00000371822.5_Missense_Mutation_p.P358S|WDR44_ENST00000371825.3_Missense_Mutation_p.P383S NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 383 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AGGCATTAATCCTCTCACTCT 0.358000 21 32 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926121 1926121 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:1926121G>A ENST00000399161.2 - 10 2167 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S MYT1L_ENST00000428368.2_Missense_Mutation_p.P474S NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 474 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCCTCCCCGGGAAGTTGTCTC 0.473000 30 21 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42828497 42828497 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:42828497C>T ENST00000315005.3 + 14 1862 c.1724C>T c.(1723-1725)aCc>aTc p.T575I DBF4B_ENST00000393547.2_Intron NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 575 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) CATCCGTGTACCCTTGCCTTC 0.562000 21 77 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171055880 171055880 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:171055880G>A ENST00000334231.6 + 2 192 c.192G>A c.(190-192)gtG>gtA p.V64V MYO3B_ENST00000409044.3_Silent_p.V55V|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.V55V Q8WXR4 MYO3B_HUMAN myosin IIIB 55 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGGCTGCAGTGAAAATTCTGG 0.393000 13 18 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93646166 93646166 + Silent SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:93646166A>G ENST00000394236.3 - 2 478 c.162T>C c.(160-162)ctT>ctC p.L54L PROS1_ENST00000407433.1_5'UTR NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 54 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) ATTCTCTTTCAAGATTACCCT 0.408000 12 20 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113277713 113277713 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:113277713C>T ENST00000297405.5 - 60 9859 c.9615G>A c.(9613-9615)atG>atA p.M3205I CSMD3_ENST00000352409.3_Missense_Mutation_p.M3135I|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3165I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3036I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3205 Sushi 24. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATTCAATTCCATCGTGTAGC 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 68 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92600131 92600131 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:92600131G>A ENST00000298047.6 + 21 11900 c.11883G>A c.(11881-11883)ctG>ctA p.L3961L FAT3_ENST00000525166.1_Silent_p.L3811L|FAT3_ENST00000533797.1_Silent_p.L296L|FAT3_ENST00000409404.2_Silent_p.L3961L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3961 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCGGCGCCCTGGTGCAAGCGG 0.617000 TCGA Ovarian(4;0.039) 6 9 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74623427 74623427 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:74623427G>A ENST00000321288.5 + 16 2260 c.2260G>A c.(2260-2262)Gag>Aag p.E754K CCDC33_ENST00000558821.1_Missense_Mutation_p.E144K|CCDC33_ENST00000398814.3_Missense_Mutation_p.E551K|CCDC33_ENST00000268082.4_Missense_Mutation_p.E144K Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 754 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GAAGGCGCTGGAGGAGACTGT 0.632000 5 28 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67231825 67231825 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:67231825C>T ENST00000382713.5 + 2 359 c.169C>T c.(169-171)Cat>Tat p.H57Y RP11-465I4.2_ENST00000583991.1_RNA NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 57 PH. insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CAGAAACTTTCATAAGGTAAG 0.408000 13 8 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704336 29704336 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:29704336C>T ENST00000471961.1 + 1 1289 c.241C>T c.(241-243)Ccg>Tcg p.P81S GAS2L1_ENST00000341313.6_Missense_Mutation_p.P81S|GAS2L1_ENST00000360113.2_Missense_Mutation_p.P81S|GAS2L1_ENST00000406549.3_Missense_Mutation_p.P81S|GAS2L1_ENST00000407647.2_Missense_Mutation_p.P81S|GAS2L1_ENST00000403764.1_Missense_Mutation_p.P81S|GAS2L1_ENST00000407854.1_Missense_Mutation_p.P81S Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 81 CH. cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 AGCCGCCCGCCCGGCCCGAGG 0.692000 13 12 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475867 120475867 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:120475867C>T ENST00000355622.6 + 3 1562 c.1461C>T c.(1459-1461)ttC>ttT p.F487F TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.F447F NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 487 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AGGAAAACTTCCTTCCAGATA 0.448000 28 4 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146232 70146232 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:70146232G>A ENST00000335568.5 + 1 16 c.14G>A c.(13-15)tGg>tAg p.W5* UGT2B28_ENST00000511240.1_Nonsense_Mutation_p.W5* NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 5 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GCTCTGAAGTGGACTTCAGTT 0.403000 55 77 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093616 40093616 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:40093616G>A ENST00000299092.3 - 4 1460 c.1262C>T c.(1261-1263)gCc>gTc p.A421V GPR176_ENST00000561100.1_Missense_Mutation_p.A422V|GPR176_ENST00000543580.1_Missense_Mutation_p.A377V NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 422 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CAGGGGTGGGGCAGAGGGCGC 0.572000 81 59 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31201001 31201001 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:31201001G>A ENST00000357033.4 - 68 10034 c.9828C>T c.(9826-9828)atC>atT p.I3276I DMD_ENST00000378707.3_Silent_p.I816I|DMD_ENST00000359836.1_Silent_p.I816I|DMD_ENST00000378680.2_Silent_p.I208I|DMD_ENST00000474231.1_Silent_p.I816I|DMD_ENST00000378677.2_Silent_p.I3272I|DMD_ENST00000361471.4_Silent_p.I208I|DMD_ENST00000541735.1_Silent_p.I816I|DMD_ENST00000378723.3_Silent_p.I208I|DMD_ENST00000343523.2_Silent_p.I816I|DMD_ENST00000378702.4_Silent_p.I208I 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 3276 Interaction with SYNM (By similarity). 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 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) GGGCCGCTTCGATCTCTGGCT 0.527000 26 25 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33374033 33374033 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:33374033G>A ENST00000428849.2 + 8 2047 c.1597G>A c.(1597-1599)Gaa>Aaa p.E533K NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 533 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 AGCCCAGAATGAACGGTCATC 0.622000 57 238 0 0 1 0 0 MYB 4602 broad.mit.edu 37 6 135513668 135513668 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:135513668C>T ENST00000341911.5 + 6 933 c.734C>T c.(733-735)tCc>tTc p.S245F MYB_ENST00000527615.1_Missense_Mutation_p.S245F|MYB_ENST00000420123.2_Missense_Mutation_p.S221F|MYB_ENST00000534121.1_Missense_Mutation_p.S245F|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.S245F|MYB_ENST00000528774.1_Missense_Mutation_p.S245F|MYB_ENST00000525369.1_Missense_Mutation_p.S245F|MYB_ENST00000534044.1_Missense_Mutation_p.S245F|MYB_ENST00000442647.2_Missense_Mutation_p.S245F|MYB_ENST00000533624.1_Missense_Mutation_p.S245F|MYB_ENST00000367814.4_Missense_Mutation_p.S245F NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 245 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) AACGACTATTCCTATTACCAC 0.438000 T NFIB adenoid cystic carcinoma 8 24 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54339780 54339780 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:54339780C>T ENST00000254442.3 + 2 245 c.34C>T c.(34-36)Ctt>Ttt p.L12F WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.L12F NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 12 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) ACCCATTGTTCTTTGGGGTCG 0.408000 10 39 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 400004 400004 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:400004G>A ENST00000331563.2 + 6 1387 c.1311G>A c.(1309-1311)aaG>aaA p.K437K NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 437 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCACCTGAAGGACCGCCTGG 0.662000 5 6 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142568095 142568095 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:142568095G>A ENST00000392957.2 + 18 3523 c.2736G>A c.(2734-2736)gtG>gtA p.V912V EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Silent_p.V635V|EPHB6_ENST00000442129.1_Silent_p.V912V NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 912 Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) ACCAGCTGGTGGCTGCATTTG 0.607000 102 87 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111436534 111436534 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:111436534G>A ENST00000265162.5 + 8 1787 c.1443_splice c.e8-1 p.G482_splice RP11-380D23.1_ENST00000503998.1_RNA NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 482 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CCATTGTAGGGATCTTCTATT 0.294000 11 21 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242240 5242240 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:5242240C>T ENST00000274181.7 + 17 2736 c.2598C>T c.(2596-2598)ccC>ccT p.P866P NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 866 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AGAAGCAGCCCCCTGCCCAGC 0.592000 38 41 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163374667 163374667 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:163374667C>T ENST00000332142.5 - 4 564 c.463_splice c.e4-1 p.R155_splice KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Splice_Site_p.R155_splice NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 155 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CAAAAAATTTCCCTATAAATG 0.368000 9 13 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108868931 108868931 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:108868931C>T ENST00000376700.1 + 2 283 c.283C>T c.(283-285)Ccc>Tcc p.P95S SULT1C3_ENST00000329106.2_Missense_Mutation_p.P95S Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 95 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 ACTGAAATTTCCCCATAAAGA 0.398000 19 26 0 0 1 0 0 CFI 3426 broad.mit.edu 37 4 110682704 110682704 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:110682704G>A ENST00000394634.2 - 4 834 c.627C>T c.(625-627)ttC>ttT p.F209F CFI_ENST00000512148.1_Silent_p.F209F|CFI_ENST00000394635.3_Silent_p.F209F NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 209 SRCR. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity p.F209F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CCACATCAGCGAAATCCTGGT 0.393000 27 49 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54791158 54791158 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:54791158G>A ENST00000293379.4 - 29 3318 c.3057C>T c.(3055-3057)atC>atT p.I1019I RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 1019 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CCTTGTAGAGGATGTAGATGA 0.542000 7 27 0 0 1 0 0 GBP1P1 400759 broad.mit.edu 37 1 89889902 89889902 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:89889902G>A ENST00000513638.1 + 0 643 NR_003133.2 TGATGGAACAGAAGGAGAGGA 0.473000 91 309 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134427838 134427838 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:134427838A>G ENST00000370766.3 - 3 2938 c.229T>C c.(229-231)Tgg>Cgg p.W77R ZNF75D_ENST00000370764.1_Missense_Mutation_p.W77R|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 77 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GGCCTCAGCCACTGATGGCAC 0.522000 28 38 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142458485 142458485 + Silent SNP C C T rs145133152 by1000genomes TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:142458485C>T ENST00000486171.1 + 2 137 c.120C>T c.(118-120)tcC>tcT p.S40S PRSS1_ENST00000311737.7_Silent_p.S40S P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 40 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACCAGGTGTCCCTGAATTCTG 0.557000 5 114 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126716208 126716208 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:126716208G>A ENST00000309035.6 - 1 251 c.121C>T c.(121-123)Ctg>Ttg p.L41L CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCATACGTCAGGGAGCTTCTC 0.637000 22 4 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762958 140762958 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:140762958G>A ENST00000518325.1 + 1 492 c.492G>A c.(490-492)acG>acA p.T164T PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTGGGCACGAACTCCCTCC 0.512000 17 3 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92301426 92301426 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:92301426C>T ENST00000276609.3 + 3 495 c.256C>T c.(256-258)Cct>Tct p.P86S SLC26A7_ENST00000309536.2_Missense_Mutation_p.P86S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P86S NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 86 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) GTCTCTGTTTCCTGCCATAAT 0.383000 43 40 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123152300 123152300 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:123152300G>A ENST00000466202.1 - 2 671 c.95C>T c.(94-96)cCc>cTc p.P32L IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.P32L|IQUB_ENST00000434450.1_Missense_Mutation_p.P32L Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 32 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 CTCTTCTGAGGGAACTGGAAT 0.403000 19 39 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941282 13941282 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:13941282G>A ENST00000254323.2 + 13 2577 c.2388G>A c.(2386-2388)gcG>gcA p.A796A ZSWIM4_ENST00000440752.2_Silent_p.A630A NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 796 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TGGACGCGGCGGCCGGCGGCC 0.697000 64 75 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106252 27106252 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:27106252C>T ENST00000324856.7 + 20 6234 c.5863C>T c.(5863-5865)Cta>Tta p.L1955L ARID1A_ENST00000457599.2_Silent_p.L1738L|ARID1A_ENST00000540690.1_Silent_p.L283L|ARID1A_ENST00000374152.2_Silent_p.L1572L NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1955 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CATCAAGATCCTAGAGGACGA 0.532000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 69 39 0 0 1 0 0 ISX 91464 broad.mit.edu 37 22 35480375 35480375 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:35480375G>A ENST00000308700.6 + 3 1333 c.e3-1 ISX_ENST00000404699.2_Splice_Site NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 CCTGATTACAGATCTGGTTCC 0.517000 15 14 0 0 1 0 0 IFT46 56912 broad.mit.edu 37 11 118425227 118425227 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:118425227G>A ENST00000264020.2 - 8 960 c.583C>T c.(583-585)Cct>Tct p.P195S IFT46_ENST00000530872.1_Missense_Mutation_p.P195S|IFT46_ENST00000264021.3_Missense_Mutation_p.P144S NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 144 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 AGCACCGTAGGGTCTGACTGC 0.473000 14 17 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80228502 80228502 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:80228502G>A ENST00000392959.1 - 3 721 c.110C>T c.(109-111)tCg>tTg p.S37L LCA5_ENST00000369846.4_Missense_Mutation_p.S37L|LCA5_ENST00000467898.2_Missense_Mutation_p.S37L NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 37 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) ACTGACCAGCGATGATCGGCC 0.418000 34 49 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 54025387 54025387 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:54025387C>T ENST00000514921.1 + 7 2509 c.2396C>T c.(2395-2397)tCc>tTc p.S799F MLIP_ENST00000274897.5_Missense_Mutation_p.S275F|MLIP_ENST00000502396.1_Missense_Mutation_p.S810F|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000511744.1_3'UTR Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 275 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 TTACAGGATTCCTTGTCTATG 0.418000 6 7 0 0 1 0 0 WDR75 84128 broad.mit.edu 37 2 190332266 190332266 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:190332266C>T ENST00000314761.4 + 14 1580 c.1520C>T c.(1519-1521)tCc>tTc p.S507F NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 507 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TGTTGTTTCTCCGAAGATGGT 0.388000 42 54 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108475975 108475975 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:108475975G>A ENST00000295755.6 - 1 256 c.58C>T c.(58-60)Ccg>Tcg p.P20S NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 20 P -> L (in dbSNP:rs11708527). cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GTACTCCCCGGGTTGATCAGC 0.532000 7 15 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66204834 66204834 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:66204834G>A ENST00000503581.1 - 4 1007 c.470C>T c.(469-471)tCa>tTa p.S157L EYS_ENST00000342421.5_Missense_Mutation_p.S157L|EYS_ENST00000370616.2_Missense_Mutation_p.S157L|EYS_ENST00000370618.3_Missense_Mutation_p.S157L|EYS_ENST00000393380.2_Missense_Mutation_p.S157L|EYS_ENST00000370621.3_Missense_Mutation_p.S157L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 157 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TGGACAAGGTGATGGACCACT 0.418000 11 12 0 0 1 0 0 PHLDB3 653583 broad.mit.edu 37 19 43998885 43998885 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:43998885G>A ENST00000292140.5 - 9 1478 c.1118C>T c.(1117-1119)tCc>tTc p.S373F NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 373 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) AAAGAGGCAGGAAGAAGTAGG 0.597000 11 5 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2951235 2951235 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:2951235G>A ENST00000381130.2 + 9 1498 c.1498G>A c.(1498-1500)Gag>Aag p.E500K NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 500 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCCTGACAATGAGCCATTATT 0.483000 9 11 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59157994 59157994 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:59157994G>A ENST00000262717.4 + 2 606 c.208G>A c.(208-210)Gaa>Aaa p.E70K CDH20_ENST00000536675.2_Missense_Mutation_p.E70K|CDH20_ENST00000538374.1_Missense_Mutation_p.E70K Q9HBT6 CAD20_HUMAN cadherin 20, type 2 70 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TTTCGTTCTGGAAGAGTACAC 0.463000 31 40 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75893175 75893175 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:75893175C>T ENST00000322507.8 - 10 1791 c.1482G>A c.(1480-1482)ttG>ttA p.L494L COL12A1_ENST00000416123.2_Silent_p.L494L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.L494L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 494 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TGAATTTTTTCAAAGTGAACT 0.368000 15 18 0 0 1 0 0 TMEM255B 348013 broad.mit.edu 37 13 114504661 114504661 + Missense_Mutation SNP G G C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:114504661G>C ENST00000375353.3 + 7 572 c.545G>C c.(544-546)gGc>gCc p.G182A NM_182614.2 NP_872420.1 transmembrane protein 255B GAGTTCATCGGCGTCAGCGGC 0.637000 5 17 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57946956 57946956 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:57946956C>T ENST00000335397.3 + 3 356 c.40C>T c.(40-42)Ctt>Ttt p.L14F NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) CGAGTTCCTCCTTATTGCATT 0.438000 16 25 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45267295 45267295 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:45267295C>T ENST00000372201.4 + 4 676 c.435_splice c.e4-1 p.S146_splice PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 146 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) TCTCTGCAGTCCCTGGCCCAC 0.637000 6 35 0 0 1 0 0 PRR3 80742 broad.mit.edu 37 6 30529767 30529767 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:30529767C>T ENST00000376560.3 + 3 785 c.326C>T c.(325-327)cCt>cTt p.P109L PRR3_ENST00000376557.3_Missense_Mutation_p.P88L|PRR3_ENST00000498336.1_3'UTR NM_025263.3 NP_079539.2 P79522 PRR3_HUMAN proline rich 3 109 Pro-rich. nucleic acid binding|zinc ion binding lung(1)|ovary(1) 2 GCAGAACCTCCTTTTCCGGGG 0.577000 35 11 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107781836 107781836 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:107781836C>T ENST00000311955.3 - 1 637 c.583G>A c.(583-585)Ggc>Agc p.G195S NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 195 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CCTCCATAGCCGCTGTCCTCT 0.582000 154 124 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43926706 43926706 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:43926706C>T ENST00000262726.7 - 31 4625 c.4372G>A c.(4372-4374)Gat>Aat p.D1458N EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.D1306N|EFCAB6-AS1_ENST00000431327.2_RNA NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1458 EF-hand 16.|Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GTCCTGAAATCTGCGACGCTT 0.592000 31 40 0 0 1 0 0 RNF180 285671 broad.mit.edu 37 5 63496695 63496695 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:63496695C>T ENST00000389100.4 + 2 133 c.61C>T c.(61-63)Cgt>Tgt p.R21C RNF180_ENST00000381081.2_Missense_Mutation_p.R21C|RNF180_ENST00000296615.6_Missense_Mutation_p.R21C NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 21 SILRC -> GETVFSL (in Ref. 2; CAD89939). integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) AAGTATTCTTCGTTGTTGGAA 0.333000 19 23 0 0 1 0 0 MAOA 4128 broad.mit.edu 37 X 43571159 43571159 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:43571159G>A ENST00000338702.3 + 4 470 c.347G>A c.(346-348)tGg>tAg p.W116* MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 116 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) CCACCAGTATGGAATCCCATT 0.378000 16 61 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95829962 95829962 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:95829962G>A ENST00000376887.4 - 13 1840 c.1727_splice c.e13+1 p.L576_splice ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Splice_Site_p.L501_splice|ABCC4_ENST00000431522.1_Splice_Site_p.L576_splice|ABCC4_ENST00000412704.1_Splice_Site_p.L576_splice NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 576 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CACACTCACAGTTCGAACAAG 0.448000 5 18 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19744834 19744834 + Silent SNP G G A rs138372356 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:19744834G>A ENST00000203556.4 - 19 2387 c.2250C>T c.(2248-2250)atC>atT p.I750I GMIP_ENST00000445806.2_Silent_p.I721I|GMIP_ENST00000587238.1_Silent_p.I724I NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 750 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CGTAGTGCACGATGAGGAACT 0.682000 25 35 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47307368 47307368 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:47307368G>A ENST00000377065.4 - 5 2440 c.1801C>T c.(1801-1803)Cat>Tat p.H601Y ZNF41_ENST00000313116.7_Missense_Mutation_p.H601Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H611Y NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 643 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TCTCCTGTATGGATTCTCTGA 0.448000 17 27 0 0 1 0 0 NDUFAF1 51103 broad.mit.edu 37 15 41679741 41679741 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:41679741G>A ENST00000260361.4 - 5 1266 c.885C>T c.(883-885)ttC>ttT p.F295F NM_016013.3 NP_057097.2 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 295 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) CTATCTCCAGGAAGAATGGAC 0.348000 23 25 0 0 1 0 0 DHDH 27294 broad.mit.edu 37 19 49442759 49442759 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:49442759C>T ENST00000221403.2 + 4 460 c.420C>T c.(418-420)gcC>gcT p.A140A DHDH_ENST00000522614.1_Silent_p.A140A|DHDH_ENST00000523250.1_Intron NM_014475.3 NP_055290.1 Q9UQ10 DHDH_HUMAN dihydrodiol dehydrogenase (dimeric) 140 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) CTGTTTTGGCCCAGGGAACTC 0.607000 14 50 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74443752 74443752 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:74443752C>T ENST00000339953.5 - 11 1357 c.1236G>A c.(1234-1236)atG>atA p.M412I NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 412 C-type lectin. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTGCCTACCCCATGGCAGCAC 0.637000 5 47 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47686167 47686167 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:47686167C>T ENST00000283303.2 + 9 2335 c.2077C>T c.(2077-2079)Cgt>Tgt p.R693C GPR115_ENST00000371220.1_Missense_Mutation_p.R750C|GPR115_ENST00000327753.3_Missense_Mutation_p.R693C NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 693 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 ATTAATGAATCGTCAAGGATG 0.348000 19 15 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24359010 24359010 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:24359010G>A ENST00000175238.6 + 20 2212 c.2129G>A c.(2128-2130)gGa>gAa p.G710E ADAM7_ENST00000520720.1_Missense_Mutation_p.G482E|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G710E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 710 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G710E(1) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GAAACCCTGGGAGTGGAGAAC 0.378000 9 30 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612188 20612188 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:20612188C>T ENST00000333629.1 + 1 294 c.294C>T c.(292-294)atC>atT p.I98I NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I98I(1) endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GAAGCTGCATCACTCAGCTCT 0.493000 51 9 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203015104 203015104 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:203015104C>T ENST00000367240.2 + 8 1521 c.994C>T c.(994-996)Ctg>Ttg p.L332L PPFIA4_ENST00000414050.2_Silent_p.L39L|PPFIA4_ENST00000447715.2_Silent_p.L332L|PPFIA4_ENST00000295706.4_5'UTR O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 260 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CAAGGAGTCCCTGCACCGCCA 0.582000 67 93 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1074872 1074872 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:1074872G>A ENST00000313093.2 + 10 1410 c.1179G>A c.(1177-1179)agG>agA p.R393R HMHA1_ENST00000586866.1_Silent_p.R397R|HMHA1_ENST00000536472.1_Silent_p.R233R|HMHA1_ENST00000590214.1_Silent_p.R420R|HMHA1_ENST00000539243.2_Silent_p.R409R|HMHA1_ENST00000543365.1_Silent_p.R276R NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 393 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCCCAGAGGAAGCTGGTGA 0.761000 3 4 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14883544 14883544 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:14883544C>T ENST00000398334.1 - 3 356 c.89G>A c.(88-90)gGa>gAa p.G30E FANCB_ENST00000324138.3_Missense_Mutation_p.G30E NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 30 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) TGCAAAATTTCCTTTAGACAA 0.368000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 14 74 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82451874 82451874 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:82451874C>T ENST00000423517.2 - 20 15065 c.14728G>A c.(14728-14730)Gaa>Aaa p.E4910K PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.E4910K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4772 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CCTGCATCTTCCAGGTGGGTC 0.507000 34 173 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64140043 64140043 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:64140043C>T ENST00000545618.1 - 4 864 c.301G>A c.(301-303)Gaa>Aaa p.E101K ZC4H2_ENST00000374839.3_Missense_Mutation_p.E106K|ZC4H2_ENST00000447788.2_Missense_Mutation_p.E106K|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.E83K Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 106 metal ion binding|protein binding p.E106*(1) endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCCACATGTTCTTTCAGTGGC 0.483000 41 41 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154595636 154595636 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:154595636C>T ENST00000404039.1 + 14 1865 c.1278C>T c.(1276-1278)atC>atT p.I426I DPP6_ENST00000332007.3_Silent_p.I428I|DPP6_ENST00000377770.3_Silent_p.I490I|DPP6_ENST00000427557.1_Silent_p.I383I NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 490 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TGACCAAGATCCTAGCCTACG 0.522000 14 6 0 0 1 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776435 159776435 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:159776435C>T ENST00000393975.3 - 3 736 c.733G>A c.(733-735)Gac>Aac p.D245N NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 200 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCGTGATGTCGTAGGTGAAG 0.572000 29 8 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100238652 100238652 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:100238652C>T ENST00000462107.1 - 3 520 c.233G>A c.(232-234)gGa>gAa p.G78E TFR2_ENST00000223051.3_Missense_Mutation_p.G78E|TFR2_ENST00000431692.1_Missense_Mutation_p.G78E Q9UP52 TFR2_HUMAN transferrin receptor 2 78 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGCCCTCCGTCCTGCTGCCGC 0.677000 3 25 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15231335 15231335 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:15231335C>T ENST00000395930.1 - 4 823 c.637G>A c.(637-639)Gat>Aat p.D213N TEKT3_ENST00000338696.2_Missense_Mutation_p.D213N NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 213 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TCAACTTCATCGTGAACTAGG 0.393000 16 41 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60435628 60435628 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:60435628G>A ENST00000400324.4 - 22 2870 c.2650C>T c.(2650-2652)Cat>Tat p.H884Y DIAPH3_ENST00000400319.1_Missense_Mutation_p.H814Y|DIAPH3_ENST00000400320.1_Missense_Mutation_p.H838Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.H884Y|DIAPH3_ENST00000377908.2_Missense_Mutation_p.H873Y|DIAPH3_ENST00000267215.4_Missense_Mutation_p.H884Y|DIAPH3_ENST00000465066.1_5'UTR NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 884 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ACCAGGAAATGAAGTAGCGTT 0.358000 9 31 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121358839 121358839 + Silent SNP C C T rs144880203 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:121358839C>T ENST00000260197.7 + 4 756 c.627C>T c.(625-627)ctC>ctT p.L209L SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 209 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity p.L209L(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CAGCTGATCTCCTCCTACACA 0.522000 30 58 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144994716 144994716 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:144994716G>A ENST00000369356.4 - 1 306 c.16C>T c.(16-18)Cgc>Tgc p.R6C PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.R6C|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R6C|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R6C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R6C|PDE4DIP_ENST00000369359.4_Intron NM_001198834.2|NM_014644.4 NP_001185763.2|NP_055459.4 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 6 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GACAGAGTGCGATATCCATTA 0.567000 T PDGFRB MPD 9 84 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94841723 94841723 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:94841723T>C ENST00000357742.4 + 1 229 c.229T>C c.(229-231)Tcg>Ccg p.S77P MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.S77P|MCTP2_ENST00000451018.3_Missense_Mutation_p.S77P NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 77 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTCCTACACCTCGGTGCCCAG 0.592000 12 36 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887382 12887382 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:12887382G>A ENST00000535591.1 - 3 670 c.475C>T c.(475-477)Ctg>Ttg p.L159L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 159 p.L159M(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ACCATTTTCAGGATGCTTCTG 0.478000 51 156 0 0 1 0 0 SNRPB 6628 broad.mit.edu 37 20 2444465 2444465 + Silent SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:2444465A>G ENST00000339610.6 - 5 566 c.111T>C c.(109-111)gcT>gcC p.A37A SNRPB_ENST00000381342.2_Silent_p.A116A|SNRPB_ENST00000438552.2_Silent_p.A116A P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 116 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 TGGGAACCCCAGCTGGGATTC 0.607000 69 85 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060342 111060342 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:111060342G>A ENST00000369771.2 - 1 1455 c.1068C>T c.(1066-1068)cgC>cgT p.R356R NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 356 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CCTTGGAGTGGCGCGAGAGCT 0.567000 67 43 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163075597 163075597 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:163075597C>T ENST00000188790.4 - 8 790 c.583G>A c.(583-585)Gga>Aga p.G195R FAP_ENST00000443424.1_Missense_Mutation_p.G170R NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 195 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.G195R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TCTGGGATTCCATTAAATATT 0.279000 16 19 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137376 40137376 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:40137376C>T ENST00000278198.2 - 2 2430 c.467G>A c.(466-468)cGa>cAa p.R156Q LRRC4C_ENST00000530763.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R156Q Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 156 regulation of axonogenesis integral to membrane protein binding p.R156Q(2) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GGGGTTGTTTCGCAACCAGAG 0.428000 8 16 0 0 1 0 0 TWSG1 57045 broad.mit.edu 37 18 9396355 9396355 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:9396355C>T ENST00000262120.5 + 4 492 c.301C>T c.(301-303)Cct>Tct p.P101S TWSG1_ENST00000581641.1_Missense_Mutation_p.P101S NM_020648.5 NP_065699.1 Q9GZX9 TWSG1_HUMAN twisted gastrulation BMP signaling modulator 1 101 p.I100fs*10(1) breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2) 10 TGAACCGATCCCTTCTCTCTT 0.448000 18 46 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153594725 153594725 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:153594725G>A ENST00000422373.1 - 8 1427 c.1179C>T c.(1177-1179)ccC>ccT p.P393P FLNA_ENST00000360319.4_Silent_p.P393P|FLNA_ENST00000369850.3_Silent_p.P393P|FLNA_ENST00000344736.4_Silent_p.P393P NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 393 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTTGCCACTGGGCTCCAGGC 0.612000 25 46 0 0 1 0 0 HSD17B6 8630 broad.mit.edu 37 12 57167846 57167846 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:57167846G>A ENST00000554643.1 + 3 559 c.210G>A c.(208-210)agG>agA p.R70R HSD17B6_ENST00000555805.1_Silent_p.R70R|HSD17B6_ENST00000555159.1_Silent_p.R70R|HSD17B6_ENST00000554150.1_Silent_p.R70R|HSD17B6_ENST00000322165.1_Silent_p.R70R O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 70 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) AGCAGCTGAGGGGCCAGACGT 0.617000 23 20 0 0 1 0 0 TLE6 79816 broad.mit.edu 37 19 2987189 2987189 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:2987189G>A ENST00000246112.4 + 7 695 c.494G>A c.(493-495)cGg>cAg p.R165Q TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.R42Q NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 42 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAACTCTGGCGGATTTTTGCC 0.622000 54 60 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92734188 92734188 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:92734188G>A ENST00000379958.2 - 3 1492 c.1223C>T c.(1222-1224)tCa>tTa p.S408L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 408 cytoplasm p.S408L(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTCATAGTATGAATTATCTAA 0.318000 13 28 0 0 1 0 0 CCL2 6347 broad.mit.edu 37 17 32583799 32583799 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:32583799G>A ENST00000225831.4 + 3 318 c.253G>A c.(253-255)Gat>Aat p.D85N CCL2_ENST00000580907.1_3'UTR NM_002982.3 NP_002973.1 P13500 CCL2_HUMAN chemokine (C-C motif) ligand 2 85 angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 6 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) GTGGGTTCAGGATTCCATGGA 0.498000 9 22 0 0 1 0 0 TNP2 7142 broad.mit.edu 37 16 11362868 11362868 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:11362868C>T ENST00000312693.3 - 1 321 c.252G>A c.(250-252)aaG>aaA p.K84K RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 84 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 AGTTCATAGTCTTTTTGTGGC 0.567000 46 65 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156639980 156639980 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:156639980G>A ENST00000368223.3 - 4 4132 c.4000C>T c.(4000-4002)Cct>Tct p.P1334S NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1334 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGACAGCAGGATCCCAGCCC 0.652000 52 61 0 0 1 0 0 VPS35 55737 broad.mit.edu 37 16 46706386 46706386 + Splice_Site SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:46706386T>A ENST00000299138.7 - 11 1219 c.e11-2 VPS35_ENST00000568642.1_Splice_Site NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 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) GTAGCAATACTACAAAAAGAA 0.269000 19 22 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734464 12734464 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:12734464C>T ENST00000380682.1 + 15 2392 c.1886C>T c.(1885-1887)tCc>tTc p.S629F NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 629 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 GCTCAGCGGTCCCTATTGACC 0.507000 43 61 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171544499 171544499 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:171544499C>T ENST00000176763.5 - 4 849 c.506G>A c.(505-507)gGa>gAa p.G169E NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 169 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTGATGTCTCCCTCGAGGGT 0.607000 11 36 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122398590 122398590 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:122398590C>T ENST00000288912.4 + 14 3087 c.2233C>T c.(2233-2235)Cga>Tga p.R745* WDR66_ENST00000397454.2_Nonsense_Mutation_p.R745* NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 745 calcium ion binding p.R745*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CAAAAGCATTCGAAGTCTCCT 0.488000 37 4 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30137031 30137031 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:30137031A>G ENST00000376694.4 + 4 1191 c.722A>G c.(721-723)aAc>aGc p.N241S TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 241 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GTCAGAGTCAACCAGAGCAGG 0.478000 11 17 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845891 106845891 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:106845891C>T ENST00000276185.4 + 16 4721 c.4721C>T c.(4720-4722)aCc>aTc p.T1574I Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1574 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GTGAGCAGGACCCTGCAGGTG 0.612000 23 32 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55509519 55509519 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:55509519C>T ENST00000302118.5 + 2 501 c.211C>T c.(211-213)Ccg>Tcg p.P71S PCSK9_ENST00000452118.2_Missense_Mutation_p.P71S|PCSK9_ENST00000543384.1_Intron NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 71 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GGGCCAGGATCCGTGGAGGTT 0.572000 36 8 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88935351 88935351 + Missense_Mutation SNP G G A rs150736820 byFrequency TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:88935351G>A ENST00000556564.1 - 18 3589 c.3305C>T c.(3304-3306)cCt>cTt p.P1102L PTPN21_ENST00000328736.3_Missense_Mutation_p.P1102L NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 1102 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CAACAACGGAGGGTTGGGGCT 0.493000 19 1 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31760783 31760783 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:31760783C>T ENST00000253362.2 + 3 349 c.203C>T c.(202-204)tCc>tTc p.S68F BPIFA2_ENST00000354932.5_Missense_Mutation_p.S68F Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 68 extracellular region lipid binding CTTCAGAAATCCAGTGCTTGG 0.473000 6 26 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377519 44377519 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:44377519G>A ENST00000587539.1 - 3 846 c.847C>T c.(847-849)Cgt>Tgt p.R283C ZNF404_ENST00000324394.6_Missense_Mutation_p.R281C NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) AGACTTGAACGATGACCAAAA 0.358000 7 1 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154962153 154962153 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:154962153T>C ENST00000368433.1 + 3 1578 c.1235T>C c.(1234-1236)cTc>cCc p.L412P FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.L315P|FLAD1_ENST00000368432.1_Missense_Mutation_p.L315P|FLAD1_ENST00000292180.3_Missense_Mutation_p.L412P|FLAD1_ENST00000368428.1_5'UTR Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 412 FAD synthase. FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGCACTGCCCTCCTGCACCTC 0.592000 36 45 0 0 1 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22884668 22884668 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:22884668G>A ENST00000276431.4 - 7 1198 c.914C>T c.(913-915)cCc>cTc p.P305L TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P276L|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.P125L NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 305 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TGACTCCCCGGGGGACAACAT 0.562000 18 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179516831 179516831 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179516831G>A ENST00000589042.1 - 204 39511 c.39287C>T c.(39286-39288)cCc>cTc p.P13096L TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11589L|TTN_ENST00000342992.6_Missense_Mutation_p.P10662L|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11449 R -> L. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCTTCAGGGGGAGGACTTTC 0.343000 16 55 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672725 141672725 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:141672725G>A ENST00000547270.1 - 1 848 c.765C>T c.(763-765)ttC>ttT p.F255F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 255 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) ATATCACAAAGAAGCAGAAAA 0.493000 27 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604077 179604077 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179604077G>A ENST00000589042.1 - 48 14107 c.13883C>T c.(13882-13884)tCc>tTc p.S4628F TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S4265F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S4390F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S4457F|TTN_ENST00000591111.1_Missense_Mutation_p.S4311F|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4311 Ig-like 26. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTGTTATGGATGTTGTGAG 0.388000 20 20 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38031517 38031517 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:38031517G>A ENST00000377940.3 + 6 792 c.653G>A c.(652-654)cGa>cAa p.R218Q ZPBP2_ENST00000348931.4_Missense_Mutation_p.R240Q|ZPBP2_ENST00000584588.1_Missense_Mutation_p.R167Q NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 240 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) GCAAGAGATCGAATAGAAGAC 0.353000 8 33 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216850658 216850658 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:216850658C>T ENST00000391890.3 - 4 680 c.163G>A c.(163-165)Gga>Aga p.G55R ESRRG_ENST00000360012.3_Missense_Mutation_p.G55R|ESRRG_ENST00000493603.1_Missense_Mutation_p.G55R|ESRRG_ENST00000493748.1_Missense_Mutation_p.G55R|ESRRG_ENST00000361395.2_Missense_Mutation_p.G55R|ESRRG_ENST00000487276.1_Missense_Mutation_p.G55R|ESRRG_ENST00000359162.2_Missense_Mutation_p.G55R|ESRRG_ENST00000366938.2_Missense_Mutation_p.G55R|ESRRG_ENST00000463665.1_Missense_Mutation_p.G55R|ESRRG_ENST00000366940.2_Missense_Mutation_p.G55R|ESRRG_ENST00000361525.3_Missense_Mutation_p.G55R|ESRRG_ENST00000366937.1_Missense_Mutation_p.G83R|ESRRG_ENST00000408911.3_Missense_Mutation_p.G78R NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 78 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) GAGTCAAGTCCGTTCTGATGG 0.567000 29 38 0 0 1 0 0 FAM57B 83723 broad.mit.edu 37 16 30036996 30036996 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:30036996C>T ENST00000564806.1 - 3 486 c.441G>A c.(439-441)agG>agA p.R147R FAM57B_ENST00000279389.4_Intron|FAM57B_ENST00000380495.4_Intron Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 0 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 AGGTCCCTCCCCTTCCTGTGA 0.607000 43 77 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7122765 7122765 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:7122765G>A ENST00000341500.5 - 18 3392 c.3353C>T c.(3352-3354)cCc>cTc p.P1118L INSR_ENST00000302850.5_Missense_Mutation_p.P1130L NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1130 Protein kinase. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGGGTAGGGGGAGGGCGGCC 0.582000 19 30 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56344924 56344924 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:56344924C>T ENST00000262290.4 + 12 2224 c.1908C>T c.(1906-1908)ttC>ttT p.F636F LPO_ENST00000421678.2_Silent_p.F553F|LPO_ENST00000582328.1_Silent_p.F553F|LPO_ENST00000543544.1_Silent_p.F577F NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 636 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GCAAGCAGTTCCAGCAGATCC 0.642000 7 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179440956 179440956 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179440956G>A ENST00000589042.1 - 326 70127 c.69903C>T c.(69901-69903)ttC>ttT p.F23301F TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.F14236F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.F14361F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.F14428F|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F21660F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.F20733F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21660 Fibronectin type-III 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGGAACAACGAACTGAGTGA 0.463000 15 20 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676086 11676086 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:11676086G>A ENST00000423059.3 - 2 944 c.693C>T c.(691-693)ggC>ggT p.G231G NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 231 TSP type-1 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGTTTGGACAGCCAGAGCCTC 0.637000 HNSCC(18;0.044) 17 17 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478219 42478219 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:42478219G>A ENST00000434000.1 - 9 1274 c.992C>T c.(991-993)cCc>cTc p.P331L GPATCH8_ENST00000591680.1_Missense_Mutation_p.P409L Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 409 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AAGTAGAAAGGGAAAATTAGG 0.428000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 27 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25718510 25718510 + Silent SNP C C T rs143372707 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:25718510C>T ENST00000349320.3 - 6 949 c.561G>A c.(559-561)acG>acA p.T187T RHCE_ENST00000294413.7_Silent_p.T203T|RHCE_ENST00000243186.6_Silent_p.T203T|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000425135.1_Silent_p.T203T|RHCE_ENST00000374352.2_Silent_p.T187T|RHCE_ENST00000413854.1_Silent_p.T203T|RHCE_ENST00000349438.4_Silent_p.T203T P18577 RHCE_HUMAN Rh blood group, CcEe antigens 203 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) AACTGGGTATCGTTGCTCTCT 0.532000 73 24 0 0 1 0 0 C16orf89 146556 broad.mit.edu 37 16 5115824 5115824 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:5115824G>A ENST00000315997.5 - 1 287 c.86C>T c.(85-87)gCt>gTt p.A29V C16orf89_ENST00000350219.4_Missense_Mutation_p.A67V|C16orf89_ENST00000422873.1_Missense_Mutation_p.A67V|C16orf89_ENST00000472572.3_Missense_Mutation_p.A29V|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Missense_Mutation_p.A29V NM_152459.4 NP_689672.4 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 29 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 TTTACTTTCAGCAGTGTCCAG 0.602000 15 24 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41069821 41069821 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:41069821C>T ENST00000324545.7 + 33 5708 c.5075C>T c.(5074-5076)tCa>tTa p.S1692L USP9X_ENST00000378308.2_Missense_Mutation_p.S1692L NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1692 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TTTTTTAATTCATTGGTGGAT 0.363000 23 39 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 649279 649279 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:649279G>A ENST00000576778.1 - 1 3312 c.1971C>T c.(1969-1971)gaC>gaT p.D657D GEMIN4_ENST00000319004.5_Silent_p.D668D P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 668 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TCAGACTGAGGTCTACCTCTT 0.522000 7 17 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129774250 129774250 + Missense_Mutation SNP C C T rs140574226 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:129774250C>T ENST00000421865.2 + 46 6596 c.6547C>T c.(6547-6549)Ctc>Ttc p.L2183F NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2183 Laminin G-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGATAACCTCCTCTTTTATCT 0.348000 12 18 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18828730 18828730 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:18828730G>A ENST00000446231.2 - 57 10369 c.9957C>T c.(9955-9957)gcC>gcT p.A3319A SMG1_ENST00000389467.3_Silent_p.A3320A Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3319 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CCAGGTTTAAGGCTTCTGCAG 0.413000 4 5 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342430 40342430 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:40342430G>A ENST00000406785.1 - 8 2966 c.2777C>T c.(2776-2778)tCc>tTc p.S926F SLC8A1_ENST00000406391.2_Missense_Mutation_p.S926F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S957F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S962F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S954F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S957F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S926F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S926F|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S926F|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S962F|SLC8A1-AS1_ENST00000593848.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 962 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTCCAGGGAGGAGAAGAAAAT 0.428000 30 19 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118184839 118184839 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:118184839G>A ENST00000427715.2 + 11 1316 c.882G>A c.(880-882)acG>acA p.T294T SLC30A8_ENST00000456015.2_Silent_p.T343T|SLC30A8_ENST00000521243.1_Silent_p.T294T|SLC30A8_ENST00000519688.1_Silent_p.T294T NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 343 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AAAGCTTTACGATGCACTCAC 0.502000 48 84 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9984935 9984935 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:9984935C>T ENST00000396573.2 - 5 1339 c.1030G>A c.(1030-1032)Gat>Aat p.D344N GRIN2A_ENST00000404927.2_Missense_Mutation_p.D344N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D344N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D187N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D344N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D344N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 344 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTTTGCCATCCCATGTAACA 0.438000 28 29 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38950723 38950723 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:38950723G>A ENST00000357387.3 - 31 3257 c.3227C>T c.(3226-3228)tCt>tTt p.S1076F RICTOR_ENST00000296782.5_Missense_Mutation_p.S1076F NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1076 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TATGGGTCCAGATCGGTCATA 0.368000 27 48 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101797334 101797334 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:101797334G>A ENST00000375001.3 + 18 2541 c.2118G>A c.(2116-2118)ggG>ggA p.G706G NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 706 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.G706G(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GACCCCCGGGGAAAAAGGGAC 0.617000 29 6 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52841668 52841668 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:52841668C>T ENST00000252252.3 - 7 1365 c.1318G>A c.(1318-1320)Gac>Aac p.D440N NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 440 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CGGGCCAGGTCCTGCTTGGCC 0.622000 54 58 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80521331 80521331 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:80521331C>T ENST00000335255.5 + 2 695 c.521C>T c.(520-522)gCc>gTc p.A174V NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 174 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CCAGTGAAGGCCGTACAGCCA 0.582000 12 27 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723467 7723467 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:7723467C>T ENST00000303635.7 + 9 1067 c.860C>T c.(859-861)tCg>tTg p.S287L CAMTA1_ENST00000439411.2_Missense_Mutation_p.S287L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.S287L(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGCATCATCTCGCCCAAGGTG 0.637000 T WWTR1 epitheliod hemangioendothelioma 51 160 0 0 1 0 0 PLD2 5338 broad.mit.edu 37 17 4721600 4721600 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:4721600C>T ENST00000263088.6 + 19 2060 c.1929C>T c.(1927-1929)ttC>ttT p.F643F PLD2_ENST00000572940.1_Silent_p.F643F NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 643 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) AGAATCAGTTCTTCATTAGCT 0.572000 16 30 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189873782 189873782 + Missense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:189873782T>A ENST00000304636.3 + 48 3828 c.3658T>A c.(3658-3660)Tat>Aat p.Y1220N COL3A1_ENST00000317840.5_Missense_Mutation_p.Y917N NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1220 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGCCCCGTATTATGGAGATGA 0.488000 37 57 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 16 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32836601 32836601 + Nonsense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:32836601G>T ENST00000380250.3 + 53 8264 c.7768G>T c.(7768-7770)Gag>Tag p.E2590* NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2590 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GCAGATTTCTGAGGGTTCAAA 0.398000 26 18 1.12875e-08 1.13926e-08 1 1 0 PTCHD4 442213 broad.mit.edu 37 6 48036238 48036238 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:48036238G>A ENST00000543600.1 - 1 142 c.103C>T c.(103-105)Ctg>Ttg p.L35L PTCHD4_ENST00000339488.4_Silent_p.L52L Q6ZW05 CF138_HUMAN patched domain containing 4 52 integral to membrane hedgehog receptor activity GTGATTGTCAGGACTGCGGGC 0.672000 4 13 0 0 1 0 0 PON3 5446 broad.mit.edu 37 7 94993272 94993272 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:94993272G>A ENST00000265627.5 - 6 608 c.598C>T c.(598-600)Cgc>Tgc p.R200C PON3_ENST00000427422.1_Missense_Mutation_p.R200C|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TAAGTCCAGCGAAGATCCAAG 0.448000 58 102 0 0 1 0 0 ZDHHC13 54503 broad.mit.edu 37 11 19172302 19172302 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:19172302A>T ENST00000446113.2 + 6 669 c.548A>T c.(547-549)cAg>cTg p.Q183L ZDHHC13_ENST00000399351.3_Missense_Mutation_p.Q53L|ZDHHC13_ENST00000532812.1_3'UTR NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 183 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 GTAAATGGGCAGACACCTCTC 0.323000 14 23 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220500082 220500082 + Silent SNP C C T rs140366514 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:220500082C>T ENST00000358055.3 + 13 2348 c.1836C>T c.(1834-1836)ccC>ccT p.P612P SLC4A3_ENST00000373760.2_Silent_p.P612P|SLC4A3_ENST00000317151.3_Silent_p.P612P|SLC4A3_ENST00000273063.6_Silent_p.P639P|SLC4A3_ENST00000373762.3_Silent_p.P639P P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 612 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGTGATCCCCCCGTCCGAGG 0.607000 12 39 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82763687 82763687 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:82763687G>A ENST00000423517.2 - 3 3516 c.3179C>T c.(3178-3180)cCt>cTt p.P1060L PCLO_ENST00000333891.8_Missense_Mutation_p.P1060L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1006 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTGCAGAGAGGACAGGTTGA 0.423000 9 9 0 0 1 0 0 OR52B6 340980 broad.mit.edu 37 11 5602845 5602845 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:5602845C>T ENST00000345043.2 + 1 739 c.739C>T c.(739-741)Ctc>Ttc p.L247F AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTCTTCCGCCTCCTTTCTCA 0.502000 25 42 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76657031 76657031 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:76657031C>T ENST00000369950.3 - 14 2233 c.2044_splice c.e14+1 p.A682_splice IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 682 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ATTCTTTTACCTGGTTCAATG 0.418000 6 10 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453886 84453886 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:84453886G>A ENST00000377084.2 - 1 2642 c.1757C>T c.(1756-1758)tCg>tTg p.S586L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 586 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TAACGTGGGCGAGATCCTAGC 0.542000 8 9 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76024295 76024295 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:76024295C>T ENST00000393004.2 - 5 1474 c.1253G>A c.(1252-1254)aGt>aAt p.S418N FILIP1_ENST00000370020.1_Missense_Mutation_p.S319N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S418N Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 418 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GAGCTCCTTACTATGGTGTTC 0.423000 33 53 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579708 55579708 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:55579708C>T ENST00000333973.2 + 1 855 c.766C>T c.(766-768)Ctt>Ttt p.L256F NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGGAACAGTCCTTTCCATTTA 0.517000 10 19 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108297037 108297037 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:108297037C>T ENST00000520734.1 - 6 763 c.478G>A c.(478-480)Gag>Aag p.E160K ANGPT1_ENST00000520052.1_Missense_Mutation_p.E159K|ANGPT1_ENST00000518386.1_Intron Q15389 ANGP1_HUMAN angiopoietin 1 360 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AAAATAAACTCATTCCCCAGC 0.418000 6 35 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45545629 45545629 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:45545629G>A ENST00000347644.3 + 3 146 c.e3-1 CTD-2651B20.3_ENST00000559003.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TGTGCTTGTAGGAAAAAGAAG 0.557000 12 9 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69653823 69653823 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:69653823G>A ENST00000370598.1 + 6 1953 c.1132G>A c.(1132-1134)Gga>Aga p.G378R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 378 TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G378*(1) 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) TCCTCAGTATGGAGGAAGGCC 0.453000 11 16 0 0 1 0 0 MRPS22 56945 broad.mit.edu 37 3 139069088 139069088 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:139069088G>A ENST00000495075.1 + 6 1004 c.572G>A c.(571-573)cGa>cAa p.R191Q MRPS22_ENST00000310776.4_Missense_Mutation_p.R191Q|MRPS22_ENST00000465056.1_Missense_Mutation_p.R190Q|MRPS22_ENST00000478464.1_Missense_Mutation_p.R150Q P82650 RT22_HUMAN mitochondrial ribosomal protein S22 191 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 GAACGGGACCGAATGATACAA 0.373000 6 18 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49710963 49710963 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:49710963G>A ENST00000451037.2 - 8 1778 c.838C>T c.(838-840)Ctg>Ttg p.L280L CA10_ENST00000285273.4_Silent_p.L280L|CA10_ENST00000340813.6_Silent_p.L286L|CA10_ENST00000442502.2_Silent_p.L280L|CA10_ENST00000570565.1_Silent_p.L205L NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 280 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CTCATGCTCAGAAAGATCTGA 0.507000 22 12 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70472696 70472696 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:70472696G>A ENST00000373998.1 - 2 1107 c.410C>T c.(409-411)cCt>cTt p.P137L ZMYM3_ENST00000373984.3_Missense_Mutation_p.P137L|ZMYM3_ENST00000373981.1_Missense_Mutation_p.P137L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P137L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P137L|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P137L|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P137L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P137L|ZMYM3_ENST00000489332.1_5'UTR NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 137 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TAGCCCCTCAGGTGAACAGGA 0.567000 11 8 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69693184 69693184 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:69693184G>A ENST00000265403.7 + 5 1252 c.1225G>A c.(1225-1227)Gga>Aga p.G409R UGT2B10_ENST00000458688.2_Missense_Mutation_p.G325R NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 409 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GAAGGCCAAGGGAGCAGCTGT 0.428000 59 60 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954281 30954281 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:30954281C>T ENST00000376296.3 + 2 570 c.329C>T c.(328-330)tCc>tTc p.S110F MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 110 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AACTCTGAGTCCAGCACAACC 0.577000 63 209 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95115410 95115410 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:95115410G>A ENST00000325885.5 + 1 198 c.127G>A c.(127-129)Gat>Aat p.D43N ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Missense_Mutation_p.D43N NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 43 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) AAGGCAAATAGATGTGGACAC 0.348000 35 43 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564298 176564298 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:176564298C>T ENST00000367662.3 + 3 2722 c.1558C>T c.(1558-1560)Cgg>Tgg p.R520W PAPPA2_ENST00000367661.3_Missense_Mutation_p.R520W NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 520 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R520G(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTGGCCCCTTCGGGGAGAGAA 0.537000 16 18 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138330043 138330043 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:138330043C>T ENST00000409968.1 + 17 3518 c.3340C>T c.(3340-3342)Ccc>Tcc p.P1114S THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1086S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P1117S thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGATGAAATTCCCCCAGAAAC 0.453000 12 13 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121822572 121822572 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:121822572G>A ENST00000330540.2 + 3 394 c.278G>A c.(277-279)tGg>tAg p.W93* CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Nonsense_Mutation_p.W11*|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Nonsense_Mutation_p.W87* NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 93 Ig-like V-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) TCGGACAGTTGGACCCTGAGA 0.428000 25 46 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530463 5530463 + Missense_Mutation SNP G G A rs146563055 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:5530463G>A ENST00000311659.4 - 2 473 c.326C>T c.(325-327)aCc>aTc p.T109I HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 109 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCCCTGGGTAGGGACAGA 0.607000 13 11 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16535920 16535920 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:16535920G>A ENST00000602009.1 - 3 1199 c.304C>T c.(304-306)Ccc>Tcc p.P102S EPS15L1_ENST00000455140.2_Missense_Mutation_p.P256S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.P256S|EPS15L1_ENST00000535753.2_Missense_Mutation_p.P256S|EPS15L1_ENST00000597937.1_Missense_Mutation_p.P256S|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P256S Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 256 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CTGTGCTTGGGGGACAGGCTC 0.632000 22 37 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496630 20496630 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:20496630G>A ENST00000555186.1 + 0 683 NR_038836.1 TCATGAAGGGGAAGCCGAGGG 0.438000 8 26 0 0 1 0 0 TAAR5 9038 broad.mit.edu 37 6 132910384 132910384 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:132910384C>T ENST00000258034.2 - 1 493 c.442G>A c.(442-444)Gtg>Atg p.V148M NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 148 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GCCACCCTCACTGTGAACTTG 0.547000 16 15 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129275 6129275 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:6129275C>T ENST00000316529.3 + 1 362 c.267C>T c.(265-267)gcC>gcT p.A89A NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATCCTGGCCATCTTCTGGT 0.502000 16 15 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9892241 9892241 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:9892241G>A ENST00000506583.1 - 11 1338 c.1121C>T c.(1120-1122)aCc>aTc p.T374I SLC2A9_ENST00000264784.3_Missense_Mutation_p.T403I|SLC2A9_ENST00000309065.3_Missense_Mutation_p.T374I Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 403 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CACCTGCAGGGTCAGCGTGAT 0.532000 10 20 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50745703 50745703 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:50745703A>T ENST00000300589.2 + 4 1986 c.1881A>T c.(1879-1881)agA>agT p.R627S NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 627 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) CTTTGCTCAGACACCTCTTCA 0.587000 18 32 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31487802 31487802 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:31487802C>T ENST00000333137.7 + 11 1819 c.1601C>T c.(1600-1602)cCc>cTc p.P534L SMTN_ENST00000358743.1_Missense_Mutation_p.P534L|SMTN_ENST00000347557.2_Missense_Mutation_p.P534L NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 534 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 AGCCATGCCCCCCCCAGTAGC 0.632000 6 13 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30693177 30693177 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:30693177C>T ENST00000471646.1 - 12 1552 c.1135G>A c.(1135-1137)Gac>Aac p.D379N CRHR2_ENST00000348438.4_Missense_Mutation_p.D406N|CRHR2_ENST00000341843.4_Missense_Mutation_p.D365N|CRHR2_ENST00000506074.2_3'UTR NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 379 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GAGTGATGGTCCTGCCAGCGG 0.642000 51 54 0 0 1 0 0 ZNF645 158506 broad.mit.edu 37 X 22292036 22292036 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:22292036C>T ENST00000323684.1 + 1 972 c.928C>T c.(928-930)Cgt>Tgt p.R310C NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 310 Pro-rich. intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TAACTCGGTTCGTAGCCAAGT 0.468000 27 52 0 0 1 0 0 POPDC3 64208 broad.mit.edu 37 6 105607652 105607652 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:105607652G>A ENST00000254765.3 - 3 806 c.528C>T c.(526-528)ttC>ttT p.F176F BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 176 F -> S (in Ref. 1; AAG23404). integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) ACTGAAGGGGGAAAATGTAAT 0.443000 6 11 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171080110 171080110 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:171080110G>A ENST00000367755.4 + 6 910 c.799G>A c.(799-801)Gaa>Aaa p.E267K FMO3_ENST00000542847.1_Missense_Mutation_p.E247K|FMO3_ENST00000392085.2_Missense_Mutation_p.E267K|FMO3_ENST00000538429.1_Missense_Mutation_p.E204K NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 267 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATTCAAGCATGAAAACTATGG 0.438000 32 38 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56355504 56355504 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:56355504G>A ENST00000340482.3 - 6 1160 c.984C>T c.(982-984)atC>atT p.I328I MPO_ENST00000225275.3_Silent_p.I296I P05164 PERM_HUMAN myeloperoxidase 296 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) CATTGGGCGGGATCTGAGGCA 0.632000 20 42 0 0 1 0 0 MDFIC 29969 broad.mit.edu 37 7 114619812 114619812 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:114619812C>T ENST00000257724.3 + 4 1059 c.796C>T c.(796-798)Caa>Taa p.Q266* MDFIC_ENST00000393486.1_Nonsense_Mutation_p.Q157* Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 157 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 TGTCTTTTCCCAAAAGACAGG 0.338000 20 20 0 0 1 0 0 SCML4 256380 broad.mit.edu 37 6 108067960 108067960 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:108067960G>A ENST00000369022.2 - 3 455 c.246C>T c.(244-246)gaC>gaT p.D82D SCML4_ENST00000369020.3_Silent_p.D140D|SCML4_ENST00000369021.3_Silent_p.D111D Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GGTGGGCGCAGTCGATGCAGG 0.637000 22 33 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124436232 124436232 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:124436232G>A ENST00000360013.3 + 59 8542 c.8415_splice c.e59+1 p.K2805_splice KALRN_ENST00000428018.2_Splice_Site_p.K1076_splice|KALRN_ENST00000291478.4_Splice_Site_p.K1108_splice NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2804 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGGACATAAAGGTAATAAGAA 0.507000 4 27 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2934719 2934719 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:2934719G>A ENST00000314531.4 - 4 498 c.406C>T c.(406-408)Cct>Tct p.P136S NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCGGTAGGGTAACTCTTG 0.507000 19 76 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71354291 71354291 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:71354291G>A ENST00000392650.3 - 40 5520 c.5520C>T c.(5518-5520)atC>atT p.I1840I SDK2_ENST00000388726.3_Silent_p.I1821I|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1840 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AGTGAATGGCGATGGCAGAGC 0.657000 48 87 0 0 1 0 0 IGHV3-38 28429 broad.mit.edu 37 14 106866548 106866548 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:106866548G>A ENST00000390618.2 - 0 283 ACCACTAATGGATGAGACCCA 0.527000 65 99 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43519324 43519324 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:43519324G>A ENST00000395891.1 + 17 3820 c.3215G>A c.(3214-3216)cGa>cAa p.R1072Q HECW1_ENST00000453890.1_Missense_Mutation_p.R1038Q NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1072 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.R1051Q(2) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CAGAGGCTCCGAAGTTACAGC 0.552000 45 63 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769135 15769135 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:15769135C>T ENST00000221307.7 + 10 1225 c.1177C>T c.(1177-1179)Ccc>Tcc p.P393S CYP4F3_ENST00000585846.1_Missense_Mutation_p.P393S|CYP4F3_ENST00000591058.1_Missense_Mutation_p.P393S|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P393S NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 393 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.P393S(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GAGGCTGCATCCCCCAGTCCC 0.627000 40 46 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35823827 35823827 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:35823827G>A ENST00000085219.5 + 3 478 c.412_splice c.e3+1 p.E138_splice CD22_ENST00000536635.2_Splice_Site_p.E138_splice|CD22_ENST00000341773.6_Splice_Site_p.E138_splice|CD22_ENST00000544992.2_Splice_Site_p.E138_splice|CD22_ENST00000270311.6_Splice_Site_p.E18_splice|CD22_ENST00000419549.2_Splice_Site_p.L3_splice|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000594250.1_Splice_Site_p.E138_splice NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 138 Ig-like V-type. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CAATGTCTCTGGTAAGGCCTT 0.572000 8 19 0 0 1 0 0 IGKV1D-13 28902 broad.mit.edu 37 2 90192975 90192975 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:90192975C>T ENST00000390275.2 + 0 208 CGCTCAGCTCCTGGGGCTTCT 0.552000 37 122 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909411 123909411 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:123909411G>A ENST00000330487.5 - 1 306 c.298C>T c.(298-300)Ctc>Ttc p.L100F NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AAAAAATAGAGCTGAGCCACG 0.532000 32 60 0 0 1 0 0 RPS26 6231 broad.mit.edu 37 12 56437912 56437912 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:56437912C>T ENST00000356464.5 + 4 636 c.322C>T c.(322-324)Cca>Tca p.P108S RPS26_ENST00000552361.1_Missense_Mutation_p.P108S P62854 RS26_HUMAN ribosomal protein S26 108 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 7 OV - Ovarian serous cystadenocarcinoma(18;0.123) GGGTGCTGCCCCACGTCCCCC 0.428000 17 64 0 0 1 0 0 MIP 4284 broad.mit.edu 37 12 56848375 56848375 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:56848375G>A ENST00000257979.4 - 1 51 c.23C>T c.(22-24)tCc>tTc p.S8F MIP_ENST00000555551.1_Intron NM_012064.3 NP_036196.1 P30301 MIP_HUMAN major intrinsic protein of lens fiber 8 response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 16 CCTCCAAAAGGAGGCTGATCG 0.587000 31 40 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062807 194062807 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:194062807G>A ENST00000323830.3 - 2 714 c.625C>T c.(625-627)Ccc>Tcc p.P209S CPN2_ENST00000429275.1_Missense_Mutation_p.P209S NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 209 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) ACACCCTGGGGGAGACCAGAG 0.627000 7 21 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35766335 35766335 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:35766335G>A ENST00000400441.3 - 13 1526 c.1527C>T c.(1525-1527)tcC>tcT p.S509S MROH8_ENST00000217333.8_Silent_p.S338S|MROH8_ENST00000441008.2_Silent_p.S495S maestro heat-like repeat family member 8 GGCTGATTATGGATAACTGGG 0.408000 4 11 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634224 70634224 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:70634224C>T ENST00000381269.2 - 2 1669 c.916G>A c.(916-918)Ggg>Agg p.G306R SLC8A3_ENST00000356921.2_Missense_Mutation_p.G306R|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G306R|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G306R|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G306R NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 306 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ACTTCCTTCCCTTCCAGGGGC 0.488000 32 0 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76471196 76471196 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:76471196G>A ENST00000396423.2 + 8 1141 c.1017G>A c.(1015-1017)atG>atA p.M339I HNF4G_ENST00000354370.1_Missense_Mutation_p.M302I NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 302 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CGTGGCAAATGATTGAGCAAA 0.428000 42 51 0 0 1 0 0 NOP14 8602 broad.mit.edu 37 4 2943383 2943383 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:2943383G>A ENST00000416614.2 - 15 2190 c.2125C>T c.(2125-2127)Cac>Tac p.H709Y NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.H709Y|NOP14_ENST00000502735.1_Missense_Mutation_p.H709Y|NOP14_ENST00000398071.4_Missense_Mutation_p.H709Y P78316 NOP14_HUMAN NOP14 nucleolar protein 709 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) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 ATGATGGCGTGGAAGGATGGC 0.667000 7 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615812 179615812 + Missense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179615812T>A ENST00000360870.5 - 46 11537 c.11315A>T c.(11314-11316)aAt>aTt p.N3772I TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9609 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCATGTGGATTTTGCACAAT 0.348000 39 28 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524477 187524477 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:187524477G>A ENST00000441802.2 - 19 11412 c.11203C>T c.(11203-11205)Cag>Tag p.Q3735* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3735 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAGAGTTTCTGGAATACATTC 0.463000 HNSCC(5;0.00058) 10 13 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35242162 35242162 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:35242162C>T ENST00000408931.3 - 8 1750 c.1224G>A c.(1222-1224)ggG>ggA p.G408G NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 408 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 TGGGGCCACTCCCTTGCATGG 0.557000 5 24 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24911227 24911227 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:24911227G>A ENST00000413389.2 + 6 2069 c.476G>A c.(475-477)aGg>aAg p.R159K UPB1_ENST00000326010.5_Missense_Mutation_p.R227K Q9UBR1 BUP1_HUMAN ureidopropionase, beta 227 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) CAGTTCGGAAGGATCGCGGTG 0.542000 40 42 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115612744 115612744 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:115612744G>A ENST00000361384.2 - 1 1115 c.198C>T c.(196-198)ccC>ccT p.P66P DCLRE1A_ENST00000369305.1_Silent_p.P66P NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 66 Nuclear localization region. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) CATTTCCAAGGGGCACTTCAT 0.433000 Other identified genes with known or suspected DNA repair function 76 8 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158261127 158261127 + Missense_Mutation SNP C C T rs145638725 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:158261127C>T ENST00000368170.3 + 2 544 c.265C>T c.(265-267)Cgt>Tgt p.R89C NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 89 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.R89C(1) NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GTTGTTATTTCGTTTCTACCT 0.398000 19 28 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43161378 43161378 + Missense_Mutation SNP G G A rs147500393 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:43161378G>A ENST00000352483.2 - 9 2183 c.2119C>T c.(2119-2121)Cgg>Tgg p.R707W RIPK4_ENST00000544709.1_Missense_Mutation_p.R596W|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596W|RIPK4_ENST00000332512.3_Missense_Mutation_p.R659W Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 659 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCAGCGCCCCGATGCAGGAGC 0.672000 51 25 0 0 1 0 0 IGFL1 374918 broad.mit.edu 37 19 46733364 46733364 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:46733364G>A ENST00000437936.1 + 2 48 c.e2-1 AC006262.10_ENST00000597337.1_RNA NM_198541.1 NP_940943.1 Q6UW32 IGFL1_HUMAN IGF-like family member 1 extracellular space protein binding lung(5) 5 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) CTTTCCCACAGCTGTCTTTGC 0.562000 15 37 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237994814 237994814 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:237994814G>A ENST00000366574.2 + 104 15074 c.14756_splice c.e104-1 p.L4919_splice RYR2_ENST00000360064.6_Splice_Site_p.L4925_splice|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Splice_Site_p.L4903_splice NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4919 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTATCTGTAGGTTTTTTCTGA 0.328000 7 18 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64603126 64603126 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:64603126C>T ENST00000371079.1 + 5 932 c.557C>T c.(556-558)aCc>aTc p.T186I RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.T186I NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 186 FZ. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 GGCAACCGCACCGTCTATATG 0.388000 19 57 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6943201 6943201 + Silent SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:6943201A>G ENST00000317834.3 + 1 997 c.969A>G c.(967-969)agA>agG p.R323R NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TAGTTGGGAGAAAGTGCTTCT 0.398000 10 12 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898903 175898903 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:175898903C>T ENST00000359240.3 + 5 2897 c.2227C>T c.(2227-2229)Cct>Tct p.P743S ADAM29_ENST00000514159.1_Missense_Mutation_p.P743S|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.P743S|ADAM29_ENST00000445694.1_Missense_Mutation_p.P743S NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 743 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CCAGAGTCAACCTCCTGTGAC 0.527000 34 45 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101727002 101727002 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:101727002C>T ENST00000251127.6 - 36 4047 c.3966G>A c.(3964-3966)aaG>aaA p.K1322K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1322 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) AGAGGAGCATCTTTAGCGTTA 0.483000 16 24 0 0 1 0 0 TRIP4 9325 broad.mit.edu 37 15 64686287 64686287 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:64686287C>T ENST00000261884.3 + 2 304 c.244C>T c.(244-246)Cct>Tct p.P82S TRIP4_ENST00000559565.1_3'UTR NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 82 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 GATTTCGGATCCTTTGCAGCA 0.333000 12 9 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65252493 65252493 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:65252493C>T ENST00000389722.3 - 16 3791 c.3738G>A c.(3736-3738)aaG>aaA p.K1246K SPTB_ENST00000556626.1_Silent_p.K1246K|SPTB_ENST00000389720.3_Silent_p.K1246K|SPTB_ENST00000542895.1_Silent_p.K1246K|SPTB_ENST00000389721.5_Silent_p.K1246K NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1246 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCACCTTCTCCTTGATCTTGT 0.572000 36 64 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227896959 227896959 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:227896959C>T ENST00000396625.3 - 39 3818 c.3611G>A c.(3610-3612)gGa>gAa p.G1204E COL4A4_ENST00000329662.7_Missense_Mutation_p.G1204E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1204 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCAGGTATTCCCACTGGACC 0.507000 11 15 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242241 5242241 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:5242241C>T ENST00000274181.7 + 17 2737 c.2599C>T c.(2599-2601)Cct>Tct p.P867S NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 867 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GAAGCAGCCCCCTGCCCAGCC 0.597000 37 42 0 0 1 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142223982 142223982 + RNA SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:142223982G>T ENST00000390367.3 - 0 201 CAGAAGCTCCGGGCCCTGTCC 0.478000 11 61 9.31168e-06 9.36351e-06 1 1 0 PHAX 51808 broad.mit.edu 37 5 125939354 125939354 + Silent SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:125939354G>T ENST00000297540.4 + 2 884 c.189G>T c.(187-189)gtG>gtT p.V63V PHAX_ENST00000514725.1_3'UTR NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export 63 Necessary for interaction with CBP80 (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 TTGAAAGTGTGGATTCAAGTG 0.453000 38 65 1.60099e-16 1.62955e-16 1 1 0 CCNB3 85417 broad.mit.edu 37 X 50031800 50031800 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:50031800G>A ENST00000376042.1 + 4 415 c.117G>A c.(115-117)acG>acA p.T39T CCNB3_ENST00000348603.2_Silent_p.T39T|CCNB3_ENST00000376038.1_Silent_p.T39T|CCNB3_ENST00000276014.7_Silent_p.T39T Q8WWL7 CCNB3_HUMAN cyclin B3 39 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) ATTGCCAAACGAAGATATCTC 0.418000 6 12 0 0 1 0 0 CGB7 94027 broad.mit.edu 37 19 49557612 49557612 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:49557612G>A ENST00000597853.1 - 5 3305 c.434C>T c.(433-435)cCc>cTc p.P145L CGB7_ENST00000356213.4_Missense_Mutation_p.P143L|CGB7_ENST00000377280.3_Missense_Mutation_p.P145L|CGB7_ENST00000596965.1_Missense_Mutation_p.P145L chorionic gonadotropin, beta polypeptide 7 lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) AAGGCTGGGGGGAGGGGCCTT 0.642000 27 72 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152329028 152329028 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:152329028C>T ENST00000388718.5 - 3 1306 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 412 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGGAAAATTCATTTGAACTA 0.428000 20 83 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111665207 111665207 + Missense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:111665207G>T ENST00000374647.5 - 16 2073 c.1766C>A c.(1765-1767)gCt>gAt p.A589D IKBKAP_ENST00000537196.1_Missense_Mutation_p.A240D NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 589 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGGTTTAATAGCCAGAGAAGG 0.428000 3 8 6.4e-05 6.41776e-05 1 1 0 KIAA1462 57608 broad.mit.edu 37 10 30318031 30318031 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:30318031G>A ENST00000375377.1 - 3 1147 c.1046C>T c.(1045-1047)cCc>cTc p.P349L NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 349 Pro-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GTTCTGCGGGGGCGATCTGTA 0.597000 75 9 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216298055 216298055 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:216298055G>A ENST00000354785.4 - 3 776 c.407C>T c.(406-408)aCc>aTc p.T136I FN1_ENST00000443816.1_Missense_Mutation_p.T136I|FN1_ENST00000421182.1_Missense_Mutation_p.T136I|FN1_ENST00000446046.1_Missense_Mutation_p.T136I|FN1_ENST00000345488.5_Missense_Mutation_p.T136I|FN1_ENST00000323926.6_Missense_Mutation_p.T136I|FN1_ENST00000359671.1_Missense_Mutation_p.T136I|FN1_ENST00000426059.1_Missense_Mutation_p.T136I|FN1_ENST00000346544.3_Missense_Mutation_p.T136I|FN1_ENST00000357009.2_Missense_Mutation_p.T136I|FN1_ENST00000356005.4_Missense_Mutation_p.T136I|FN1_ENST00000357867.4_Missense_Mutation_p.T136I|FN1_ENST00000336916.4_Missense_Mutation_p.T136I|FN1_ENST00000432072.2_Missense_Mutation_p.T136I P02751 FINC_HUMAN fibronectin 1 136 Fibrin- and heparin-binding 1.|Fibronectin type-I 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTTGCGATGGTACAGCTTAT 0.443000 39 56 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459649 142459649 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:142459649G>A ENST00000486171.1 + 4 284 c.267G>A c.(265-267)gaG>gaA p.E89E PRSS1_ENST00000311737.7_Silent_p.E75E P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 75 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GACTGGGAGAGCACAACATCG 0.562000 33 155 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157625 154157625 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:154157625G>A ENST00000360256.4 - 14 4640 c.4440C>T c.(4438-4440)tcC>tcT p.S1480S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1480 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGTCCCCAGGGAGCCAACCT 0.428000 21 48 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173506150 173506150 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:173506150C>T ENST00000367714.3 - 14 2008 c.1586G>A c.(1585-1587)gGa>gAa p.G529E SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.G427E NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 529 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTCAAGAATTCCATTGTTACG 0.313000 42 40 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44570657 44570657 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:44570657C>T ENST00000591793.1 + 7 1089 c.1006C>T c.(1006-1008)Cat>Tat p.H336Y ZNF223_ENST00000434772.3_Missense_Mutation_p.H226Y Q9UK11 ZN223_HUMAN zinc finger protein 223 226 T -> M (in Ref. 1; AAF04105). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TCAGAGAGTCCATACTGGAGA 0.418000 48 34 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75442073 75442073 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:75442073C>T ENST00000549446.1 - 4 2320 c.1640G>A c.(1639-1641)gGa>gAa p.G547E KCNC2_ENST00000341669.3_Missense_Mutation_p.G547E|KCNC2_ENST00000550433.1_Missense_Mutation_p.G547E|KCNC2_ENST00000393288.2_Missense_Mutation_p.G547E|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000298972.1_Missense_Mutation_p.G547E|KCNC2_ENST00000548513.1_Missense_Mutation_p.G547E|KCNC2_ENST00000548243.1_Intron NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 547 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CGGCTCACTTCCTGTACTGTC 0.478000 18 27 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957378 35957378 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:35957378C>T ENST00000274278.3 - 5 1344 c.987G>A c.(985-987)tgG>tgA p.W329* UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Nonsense_Mutation_p.W295*|UGT3A1_ENST00000503189.1_Nonsense_Mutation_p.W329* NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 329 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTGACATGTCCATATCACTC 0.502000 21 19 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263017 248263017 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:248263017C>T ENST00000366478.2 + 3 677 c.340C>T c.(340-342)Ctg>Ttg p.L114L OR2L13_ENST00000358120.2_Silent_p.L114L NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) AGGCTTACTCCTGACCTCCAT 0.507000 78 103 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101944443 101944443 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:101944443G>A ENST00000251127.6 - 9 1026 c.945C>T c.(943-945)aaC>aaT p.N315N NALCN_ENST00000376196.3_Silent_p.N315N|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 315 integral to membrane sodium channel activity|voltage-gated ion channel activity p.N315K(1) 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) CAATAAACACGTTCTGAAAAA 0.398000 12 8 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7329866 7329866 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:7329866G>A ENST00000333870.3 + 3 630 c.556G>A c.(556-558)Gag>Aag p.E186K RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Missense_Mutation_p.G73E NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 186 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) TTCCTACCTGGAGGAGGAGGA 0.582000 20 11 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 67 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558444 140558444 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:140558444G>A ENST00000239444.2 + 1 1074 c.829G>A c.(829-831)Gag>Aag p.E277K NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 277 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGTCAACGGAGAGATTTCCTA 0.423000 42 5 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31656058 31656058 + Silent SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:31656058G>T ENST00000331728.4 + 5 660 c.546G>T c.(544-546)gtG>gtT p.V182V LIMK2_ENST00000406516.1_Silent_p.V104V|LIMK2_ENST00000340552.4_Silent_p.V161V|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.V161V NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 182 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 CTGTGCAAGTGAAAGAGTAAG 0.552000 19 38 1.01871e-10 1.03301e-10 1 1 0 EPHA7 2045 broad.mit.edu 37 6 93979369 93979369 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:93979369C>T ENST00000369303.4 - 7 1643 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 487 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TAGGTCCGTTCCCTTTGATCC 0.363000 10 33 0 0 1 0 0 BCL3 602 broad.mit.edu 37 19 45262726 45262726 + Missense_Mutation SNP C C A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:45262726C>A ENST00000164227.5 + 9 1463 c.1219C>A c.(1219-1221)Ccc>Acc p.P407T NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 407 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CTCCCAGTCTCCCCCCAGGGA 0.627000 T IGH@ CLL 168 109 7.7851e-62 7.96136e-62 1 1 0 NXF1 10482 broad.mit.edu 37 11 62569260 62569260 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:62569260G>A ENST00000531709.2 - 6 703 c.590C>T c.(589-591)cCc>cTc p.P197L NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000532297.1_Missense_Mutation_p.P197L|NXF1_ENST00000439713.2_Missense_Mutation_p.P197L|NXF1_ENST00000294172.2_Missense_Mutation_p.P197L NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 197 Interaction with THOC4.|RRM. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TATAGTGTGGGGTGGAGCAGA 0.468000 31 34 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7188218 7188218 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:7188218G>A ENST00000542285.1 - 11 1729 c.1580C>T c.(1579-1581)cCt>cTt p.P527L P00736 C1R_HUMAN complement component 1, r subcomponent 579 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATCGTTGTCAGGGAGGCAGAT 0.552000 7 12 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40376709 40376709 + Missense_Mutation SNP T T G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:40376709T>G ENST00000221347.6 - 24 11720 c.11713A>C c.(11713-11715)Agc>Cgc p.S3905R NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3905 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGGATGTTGCTGCAGAGAATG 0.587000 11 135 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1440092 1440092 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:1440092C>T ENST00000345913.4 + 5 509 c.418C>T c.(418-420)Cca>Tca p.P140S TPO_ENST00000329066.4_Missense_Mutation_p.P140S|TPO_ENST00000337415.3_Missense_Mutation_p.P140S|TPO_ENST00000382201.3_Missense_Mutation_p.P140S|TPO_ENST00000382269.3_Missense_Mutation_p.P140S|TPO_ENST00000346956.3_Missense_Mutation_p.P140S|TPO_ENST00000349624.3_Missense_Mutation_p.P140S|TPO_ENST00000382198.1_Missense_Mutation_p.P140S|TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Missense_Mutation_p.P140S NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 140 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CATGCTGCCCCCAAAATGCCC 0.433000 27 9 0 0 1 0 0 MIR1197 100302250 broad.mit.edu 37 14 101491960 101491960 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:101491960G>A ENST00000408818.1 + 0 60 NR_031713.1 TGTGACGTAGGACACATGGTC 0.498000 22 4 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108073996 108073996 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:108073996G>A ENST00000357759.5 + 5 867 c.453G>A c.(451-453)agG>agA p.R151R HHLA2_ENST00000467761.1_Silent_p.R151R|HHLA2_ENST00000491820.1_Silent_p.R151R|HHLA2_ENST00000489514.2_Silent_p.R151R|HHLA2_ENST00000467562.1_Silent_p.R87R NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 151 Ig-like C1-type. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 ATGAAAAGAGGAACACAAACA 0.413000 6 17 0 0 1 0 0 TBX6 6911 broad.mit.edu 37 16 30099910 30099910 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:30099910A>T ENST00000553607.1 - 5 1488 c.795T>A c.(793-795)aaT>aaA p.N265K TBX6_ENST00000395224.2_Missense_Mutation_p.N265K|TBX6_ENST00000279386.2_Missense_Mutation_p.N265K O95947 TBX6_HUMAN T-box 6 265 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 TGGCAAAGGGATTGGCTGCAA 0.502000 57 73 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151846058 151846058 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:151846058G>A ENST00000355193.2 - 53 13343 c.13125C>T c.(13123-13125)gtC>gtT p.V4375V KMT2C_ENST00000262189.6_Silent_p.V4318V lysine (K)-specific methyltransferase 2C GCTTGGCCTCGACTTGGGCTG 0.552000 23 20 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108405367 108405367 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:108405367C>T ENST00000361582.3 + 28 3315 c.3085C>T c.(3085-3087)Ccc>Tcc p.P1029S DZIP3_ENST00000463306.1_Missense_Mutation_p.P1029S NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 1029 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GCGGAGTGATCCCTCCATCAT 0.517000 66 44 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255646 140255646 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:140255646C>T ENST00000398631.2 + 1 589 c.589C>T c.(589-591)Cgg>Tgg p.R197W PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTAGTTCTTCGGAAGTTATT 0.348000 19 0 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99509726 99509726 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:99509726G>A ENST00000261037.3 + 4 580 c.200G>A c.(199-201)gGc>gAc p.G67D COL8A1_ENST00000273342.4_Missense_Mutation_p.G67D NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 67 Nonhelical region (NC2). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GCCAAAGATGGCCTTGCCATG 0.527000 12 43 0 0 1 0 0 FAM86EP 348926 broad.mit.edu 37 4 3948534 3948534 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:3948534G>A ENST00000281228.8 - 0 851 FAM86EP_ENST00000313946.8_RNA TGTGGGTTGTGGACGGTAAAG 0.657000 35 51 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138583857 138583857 + Missense_Mutation SNP G G A rs149573553 by1000genomes TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:138583857G>A ENST00000251691.4 + 12 1403 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 413 E -> D (in dbSNP:rs9376338). regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TGGCATGACCGAAGCATGCAT 0.473000 14 30 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77987620 77987620 + Nonsense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:77987620G>T ENST00000344720.5 + 12 2368 c.1342G>T c.(1342-1344)Gga>Tga p.G448* AK5_ENST00000354567.2_Nonsense_Mutation_p.G474* NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 474 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 GGAAGAGTTCGGACGCAGGGT 0.527000 6 7 2.0095e-06 2.02256e-06 1 1 0 KCNMB4 27345 broad.mit.edu 37 12 70760539 70760539 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:70760539G>A ENST00000258111.4 + 1 484 c.25G>A c.(25-27)Gag>Aag p.E9K NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 9 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GGTGGCTTACGAGTACACGGA 0.692000 3 30 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22040815 22040815 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:22040815C>T ENST00000406385.1 + 11 818 c.758C>T c.(757-759)aCc>aTc p.T253I PPIL2_ENST00000335025.7_Missense_Mutation_p.T253I|PPIL2_ENST00000492445.2_Missense_Mutation_p.T253I|PPIL2_ENST00000412327.1_Missense_Mutation_p.T253I|PPIL2_ENST00000398831.3_Missense_Mutation_p.T253I|PPIL2_ENST00000456792.2_Missense_Mutation_p.T232I Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 253 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) TTCACCTCCACCGCGATGGTC 0.627000 23 35 0 0 1 0 0 ZNF827 152485 broad.mit.edu 37 4 146823838 146823838 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:146823838C>T ENST00000508784.1 - 2 800 c.573G>A c.(571-573)tgG>tgA p.W191* ZNF827_ENST00000379448.4_Nonsense_Mutation_p.W191*|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TACCTTGATTCCATATAAAAC 0.522000 10 38 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5968693 5968693 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:5968693C>T ENST00000329564.6 + 1 124 c.117C>T c.(115-117)ttC>ttT p.F39F NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTCCTTTTCCTCTTGGCCG 0.592000 15 26 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444196 5444196 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:5444196C>T ENST00000300778.4 + 1 856 c.766C>T c.(766-768)Ccc>Tcc p.P256S HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCTACATTCCCATGGTTGG 0.517000 19 21 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767609 77767609 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:77767609G>A ENST00000521891.2 + 10 8900 c.8452G>A c.(8452-8454)Gag>Aag p.E2818K ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2773K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2792K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2773K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2773 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACCGGAGACGAGGGAAACAC 0.478000 HNSCC(33;0.089) 19 16 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33706862 33706862 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:33706862C>T ENST00000253188.3 - 2 315 c.169G>A c.(169-171)Ggc>Agc p.G57S NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 57 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) ATGAAGATGCCCGAGCCGATG 0.677000 4 4 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175663 57175663 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:57175663C>T ENST00000537055.2 - 2 1135 c.904G>A c.(904-906)Ggc>Agc p.G302S NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGCTTCTCGCCCGTGTGCACG 0.701000 7 11 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304634 10304634 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:10304634G>A ENST00000403437.2 - 24 3160 c.3066C>T c.(3064-3066)atC>atT p.I1022I CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1022 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTTTGGTCAGGATGTTGACTT 0.403000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 55 53 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139856381 139856381 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:139856381G>A ENST00000303045.6 - 4 1125 c.679C>T c.(679-681)Cgt>Tgt p.R227C COL22A1_ENST00000435777.1_Missense_Mutation_p.R227C NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 227 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTTCTACACGAACGCTAGGA 0.448000 HNSCC(7;0.00092) 51 76 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590578 156590578 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:156590578C>T ENST00000302938.4 - 2 793 c.698G>A c.(697-699)gGg>gAg p.G233E NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 233 Ala-rich. nucleus p.G233A(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCCTCTCCCCCAGCATAAGC 0.572000 37 11 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3886440 3886440 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:3886440G>A ENST00000319331.3 + 2 876 c.115G>A c.(115-117)Gaa>Aaa p.E39K SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 39 LRRNT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TTGCGTATGTGAAATTCGTCC 0.453000 30 21 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53284082 53284082 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:53284082G>A ENST00000396435.3 - 4 1231 c.1031C>T c.(1030-1032)tCc>tTc p.S344F IQSEC2_ENST00000375365.2_Missense_Mutation_p.S139F|IQSEC2_ENST00000375368.5_Missense_Mutation_p.S334F NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 334 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 GCTCAGGAAGGAGCCCCCATA 0.587000 6 10 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021632 132021632 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:132021632G>A ENST00000356920.5 + 15 2698 c.2604G>A c.(2602-2604)ggG>ggA p.G868G PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 868 Actin-like. ATP binding TCTATGAGGGGAATGCCCTCC 0.617000 13 63 0 0 1 0 0 CIDEB 27141 broad.mit.edu 37 14 24776628 24776628 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:24776628C>T ENST00000336557.5 - 5 1437 c.135G>A c.(133-135)cgG>cgA p.R45R CIDEB_ENST00000258807.5_Silent_p.R45R|CIDEB_ENST00000554411.1_Silent_p.R45R|NOP9_ENST00000267425.3_3'UTR Q9UHD4 CIDEB_HUMAN cell death-inducing DFFA-like effector b 45 CIDE-N. apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis cytosol NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0181) TCCGGATGGTCCGCTTGTGAT 0.577000 39 5 0 0 1 0 0 HKR1 284459 broad.mit.edu 37 19 37854364 37854364 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:37854364G>A ENST00000591471.1 + 9 2489 c.848G>A c.(847-849)aGg>aAg p.R283K HKR1_ENST00000589392.1_Missense_Mutation_p.R538K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.R537K|HKR1_ENST00000541583.2_Missense_Mutation_p.R495K|HKR1_ENST00000324411.4_Missense_Mutation_p.R556K|HKR1_ENST00000544914.1_Missense_Mutation_p.R283K P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 556 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTATGTGCAGGGAGTGTGGC 0.502000 9 21 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324803 79324803 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:79324803G>A ENST00000428286.1 - 8 2510 c.1310C>T c.(1309-1311)cCa>cTa p.P437L PRUNE2_ENST00000376718.3_Missense_Mutation_p.P796L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 796 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGCTGGGAATGGCGCCACAGC 0.498000 10 1 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958831 50958831 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:50958831G>A ENST00000357701.5 + 20 2319 c.2268G>A c.(2266-2268)aaG>aaA p.K756K NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 756 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CCACACTCAAGTGGAGGCCTC 0.592000 23 41 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372221 126372221 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:126372221G>A ENST00000394329.3 + 9 10063 c.10050G>A c.(10048-10050)aaG>aaA p.K3350K FAT4_ENST00000335110.5_Silent_p.K1648K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3350 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGATCAATAAGAAGACTGGAC 0.413000 39 32 0 0 1 0 0 RPL13AP3 645683 broad.mit.edu 37 14 56232973 56232973 + RNA SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:56232973T>C ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA GGCTAAGTAGTTACTGCTGGG 0.582000 7 1 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048215 9048215 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:9048215G>A ENST00000397910.4 - 5 33619 c.33416C>T c.(33415-33417)tCa>tTa p.S11139L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11141 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S11139*(1)|p.S6772*(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGAACAGCTGAGCTGGCTTC 0.468000 23 29 0 0 1 0 0 CLDN10 9071 broad.mit.edu 37 13 96086220 96086220 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:96086220C>T ENST00000376873.3 + 1 363 c.133C>T c.(133-135)Cag>Tag p.Q45* NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 47 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) TTGGGTTTACCAGGGTCTGTG 0.507000 12 38 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95110999 95110999 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:95110999C>T ENST00000371501.4 - 35 3998 c.3876G>A c.(3874-3876)atG>atA p.M1292I MYOF_ENST00000359263.4_Missense_Mutation_p.M1292I|MYOF_ENST00000371502.4_Missense_Mutation_p.M1292I|MYOF_ENST00000358334.5_Missense_Mutation_p.M1279I Q9NZM1 MYOF_HUMAN myoferlin 1292 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCTGGGGGACCATGTATAGAT 0.507000 24 2 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128851581 128851581 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:128851581G>A ENST00000249373.3 + 11 2186 c.1906G>A c.(1906-1908)Gat>Aat p.D636N RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 636 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 ACTGCCCCAGGATATTTCTGT 0.582000 Mis skin basal cell 25 89 0 0 1 0 0 MMP12 4321 broad.mit.edu 37 11 102743697 102743697 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:102743697G>A ENST00000532855.1 - 0 344 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CATCTCCAGGGTAGATGTGTC 0.468000 4 10 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119100 3119100 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:3119100C>T ENST00000304094.1 + 1 186 c.186C>T c.(184-186)ctC>ctT p.L62L NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TGTATTTTCTCCTTGCCAACC 0.473000 49 100 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155823530 155823530 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:155823530G>A ENST00000437809.1 - 2 164 c.42C>T c.(40-42)tcC>tcT p.S14S GON4L_ENST00000271883.5_Silent_p.S14S|GON4L_ENST00000361040.5_Silent_p.S14S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.S14S Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 14 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TATGCTGTAGGGACTCTGTCA 0.398000 22 30 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28501787 28501787 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:28501787C>T ENST00000412168.2 + 5 598 c.509C>T c.(508-510)tCc>tTc p.S170F GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 170 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) AAATCTATATCCTGGGACCCT 0.493000 24 139 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212172 131212172 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:131212172C>T ENST00000298542.4 - 12 2048 c.1873G>A c.(1873-1875)Gat>Aat p.D625N FRMD7_ENST00000464296.1_Missense_Mutation_p.D610N|FRMD7_ENST00000370879.1_Missense_Mutation_p.D505N NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 625 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) GCAAACATATCCGTAAACAGG 0.423000 45 37 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144835114 144835114 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:144835114G>A ENST00000367545.3 + 35 5014 c.5014G>A c.(5014-5016)Gaa>Aaa p.E1672K NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1672 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTATCAAGCTGAAGCTCTATT 0.373000 14 13 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130319381 130319381 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:130319381C>T ENST00000299164.2 + 1 513 c.513C>T c.(511-513)acC>acT p.T171T NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 171 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GAGACCCCACCTCTCGCTGCG 0.746000 6 4 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85461792 85461792 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:85461792C>T ENST00000394573.1 + 10 1035 c.833C>T c.(832-834)tCc>tTc p.S278F SLC28A1_ENST00000537624.1_Missense_Mutation_p.S278F|SLC28A1_ENST00000537703.1_Missense_Mutation_p.S200F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S278F|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S278F|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S278F NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 278 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGTGTCATATCCGTTCTCTAC 0.582000 46 48 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876014 2876014 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:2876014C>T ENST00000520002.1 - 53 8572 c.8017G>A c.(8017-8019)Gaa>Aaa p.E2673K CSMD1_ENST00000537824.1_Missense_Mutation_p.E2672K|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2673K|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2673 Sushi 17. 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) CATCGAGTTTCGCTGCCGCTC 0.458000 50 107 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169698418 169698418 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:169698418G>A ENST00000333360.7 - 7 1138 c.999C>T c.(997-999)ttC>ttT p.F333F SELE_ENST00000367781.4_Silent_p.F333F|SELE_ENST00000367775.1_Silent_p.F271F|SELE_ENST00000367779.4_Silent_p.F333F|SELE_ENST00000367777.1_Silent_p.F333F|SELE_ENST00000367776.1_Silent_p.F333F|SELE_ENST00000367780.4_Silent_p.F271F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Silent_p.F333F|SELE_ENST00000367774.1_Silent_p.F333F NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 333 Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CCTCACAGGTGAAGTTGCAGG 0.552000 8 16 0 0 1 0 0 CEP55 55165 broad.mit.edu 37 10 95259876 95259876 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:95259876C>T ENST00000371485.3 + 2 372 c.68C>T c.(67-69)tCc>tTc p.S23F NM_001127182.1|NM_018131.4 NP_001120654.1|NP_060601.3 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 23 cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) AACTCCAAATCCGAAACTACA 0.348000 50 11 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494314 7494314 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:7494314G>A ENST00000486284.1 + 6 1469 c.1195G>A c.(1195-1197)Gat>Aat p.D399N GRM7_ENST00000357716.4_Missense_Mutation_p.D399N|GRM7_ENST00000403881.1_Missense_Mutation_p.D399N|GRM7_ENST00000389336.4_Missense_Mutation_p.D399N|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.D399N NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 399 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 p.D399Y(1) 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) AATTGGAAAAGATTCCAACTA 0.433000 20 10 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 265490 265490 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:265490C>T ENST00000419098.1 - 4 1166 c.1156G>A c.(1156-1158)Gga>Aga p.G386R NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 GGTTTCTCTCCAGTATGAATA 0.403000 9 8 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626906 108626906 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:108626906C>T ENST00000264047.2 + 9 1608 c.1332C>T c.(1330-1332)ttC>ttT p.F444F SLC5A7_ENST00000409059.1_Silent_p.F444F|SLC5A7_ENST00000540517.1_Silent_p.F339F NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 444 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CTGGCCTCTTCCTGAGAATAA 0.443000 32 34 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877879 76877879 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:76877879C>T ENST00000328299.3 + 3 548 c.400C>T c.(400-402)Cct>Tct p.P134S ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 134 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TACCAGCGTTCCTCTTTTGCT 0.428000 44 23 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15443999 15443999 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:15443999C>T ENST00000295297.4 + 3 726 c.467C>T c.(466-468)gCc>gTc p.A156V C1QTNF7_ENST00000429690.1_Missense_Mutation_p.A149V|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.A149V NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 149 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CTCAAATCCGCCTTTTCTGTT 0.517000 112 167 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154920159 154920159 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:154920159G>A ENST00000368463.3 - 8 768 c.697C>T c.(697-699)Ctc>Ttc p.L233F PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368465.1_Missense_Mutation_p.L204F|PBXIP1_ENST00000542459.1_Missense_Mutation_p.L78F|PBXIP1_ENST00000539880.1_Missense_Mutation_p.L60F|PBXIP1_ENST00000368460.3_Missense_Mutation_p.L202F NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 233 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGTCTGGGAGGACCTGCCGC 0.627000 35 54 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103121876 103121876 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:103121876A>T ENST00000295269.4 + 4 1601 c.1144A>T c.(1144-1146)Aac>Tac p.N382Y NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 382 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TCACGAGTGGAACTGGGCCTT 0.537000 32 36 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704337 29704337 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:29704337C>T ENST00000471961.1 + 1 1290 c.242C>T c.(241-243)cCg>cTg p.P81L GAS2L1_ENST00000341313.6_Missense_Mutation_p.P81L|GAS2L1_ENST00000360113.2_Missense_Mutation_p.P81L|GAS2L1_ENST00000406549.3_Missense_Mutation_p.P81L|GAS2L1_ENST00000407647.2_Missense_Mutation_p.P81L|GAS2L1_ENST00000403764.1_Missense_Mutation_p.P81L|GAS2L1_ENST00000407854.1_Missense_Mutation_p.P81L Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 81 CH. cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 GCCGCCCGCCCGGCCCGAGGT 0.697000 14 12 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057511 46057511 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:46057511C>T ENST00000380095.1 + 1 239 c.177C>T c.(175-177)ccC>ccT p.P59P TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 59 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CCTGTGAGCCCAGCGCCTGCC 0.672000 58 32 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63489391 63489391 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:63489391G>A ENST00000536984.2 + 5 1394 c.700G>A c.(700-702)Gat>Aat p.D234N CDH7_ENST00000323011.3_Missense_Mutation_p.D234N|CDH7_ENST00000397968.2_Missense_Mutation_p.D234N Q9ULB5 CADH7_HUMAN cadherin 7, type 2 234 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TCAGGCAAAGGATATGGTTGG 0.423000 23 11 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81251578 81251578 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:81251578G>A ENST00000555265.1 - 15 2247 c.1872C>T c.(1870-1872)gcC>gcT p.A624A CEP128_ENST00000281129.3_Silent_p.A624A Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 624 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 CTTTGTCCTGGGCCTGGCTCT 0.463000 44 9 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82876184 82876184 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:82876184G>A ENST00000265077.3 + 15 10687 c.10122G>A c.(10120-10122)aaG>aaA p.K3374K VCAN_ENST00000512590.2_Silent_p.K1572K|VCAN_ENST00000502527.2_Silent_p.K633K|VCAN_ENST00000343200.5_Silent_p.K2387K|VCAN_ENST00000342785.4_Silent_p.K1620K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3374 cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CATCAGCAAAGGACAATTCAA 0.383000 25 27 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16253384 16253384 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:16253384G>A ENST00000205557.7 - 26 3719 c.3690C>T c.(3688-3690)atC>atT p.I1230I NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 1230 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCACTGACACGATGCTGTTCT 0.607000 16 22 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46915326 46915326 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:46915326G>A ENST00000307522.3 - 1 1515 c.742C>T c.(742-744)Cgc>Tgc p.R248C NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 248 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) TTTCCCAAGCGATCCCCCGGG 0.706000 17 38 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133473407 133473407 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:133473407C>T ENST00000402696.3 + 4 879 c.394C>T c.(394-396)Cga>Tga p.R132* TF_ENST00000264998.3_Nonsense_Mutation_p.R5*|TF_ENST00000475382.1_3'UTR|TFP1_ENST00000460564.1_RNA NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 132 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GAACCAGCTTCGAGGCAAGAA 0.517000 42 105 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625664 154625664 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:154625664C>T ENST00000260010.6 + 1 3013 c.1605C>T c.(1603-1605)ttC>ttT p.F535F NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 535 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GCAATAACTTCATTTGCTCCT 0.433000 16 28 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61600336 61600336 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:61600336C>T ENST00000238508.3 + 7 747 c.688C>T c.(688-690)Cac>Tac p.H230Y NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) TCACATTTTTCACATAGAAAA 0.373000 27 18 0 0 1 0 0 PEF1 553115 broad.mit.edu 37 1 32101024 32101024 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:32101024G>A ENST00000373703.4 - 2 146 c.124C>T c.(124-126)Cct>Tct p.P42S PEF1_ENST00000492061.1_5'UTR|PEF1_ENST00000440872.2_Missense_Mutation_p.P42S NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 42 9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) CCACCACCAGGGGGTAGCCCA 0.647000 7 11 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973502 29973502 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:29973502G>A ENST00000378993.1 + 11 2329 c.1656G>A c.(1654-1656)tgG>tgA p.W552* IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.W552* NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 552 Interaction with NCS1.|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 CCAAGTTCTGGAAACGTTTAC 0.468000 11 13 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217482 150217482 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:150217482G>A ENST00000313543.4 + 2 577 c.420G>A c.(418-420)caG>caA p.Q140Q NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 140 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGAGGGCCAGAGCTTCCATG 0.502000 13 25 0 0 1 0 0 RFT1 91869 broad.mit.edu 37 3 53126614 53126614 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:53126614G>A ENST00000296292.3 - 12 1290 c.1229C>T c.(1228-1230)gCc>gTc p.A410V RP11-894J14.5_ENST00000607203.1_Intron|RFT1_ENST00000394738.3_Missense_Mutation_p.A371V NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 410 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GGAGGACAGGGCCAGCATCAC 0.542000 4 6 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36287351 36287351 + Missense_Mutation SNP C C T rs138094812 byFrequency TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:36287351C>T ENST00000437635.2 - 11 1882 c.1705G>A c.(1705-1707)Gag>Aag p.E569K NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 569 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 TCCGAGAACTCGTAAAAAAAC 0.572000 10 66 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95712378 95712378 + Silent SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:95712378A>G ENST00000524717.1 - 5 4489 c.3205T>C c.(3205-3207)Ttg>Ctg p.L1069L NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 1069 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GACTGATTCAACCCTGTTCCT 0.502000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 11 15 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28762045 28762045 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:28762045G>A ENST00000422425.2 + 11 775 c.731_splice c.e11+1 p.S244_splice PLB1_ENST00000327757.5_Splice_Site_p.S233_splice NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 233 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ACTTGGCTCAGGTAAAAGGGG 0.562000 18 13 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103244871 103244871 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:103244871G>A ENST00000428762.1 - 23 3227 c.3068C>T c.(3067-3069)gCt>gTt p.A1023V RELN_ENST00000343529.5_Missense_Mutation_p.A1023V|RELN_ENST00000424685.2_Missense_Mutation_p.A1023V NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1023 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) GCTGTCCAAAGCCCACTCGTC 0.502000 31 24 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211192334 211192334 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:211192334C>T ENST00000367007.4 - 6 992 c.823G>A c.(823-825)Gga>Aga p.G275R KCNH1_ENST00000271751.4_Missense_Mutation_p.G275R NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 275 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCTGCTGGTCCAACAAAGGTG 0.453000 20 25 0 0 1 0 0 CCDC74B 91409 broad.mit.edu 37 2 130900019 130900019 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:130900019C>T ENST00000392984.3 - 2 1280 c.537G>A c.(535-537)cgG>cgA p.R179R CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 161 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) TGGCCTCTTCCCGTGTCCTGT 0.632000 14 32 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762118 92762118 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:92762118G>A ENST00000318238.4 - 5 4383 c.3167C>T c.(3166-3168)tCc>tTc p.S1056F SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1056F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1056F NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1056 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CATTAATGGGGAAAACAGAGT 0.393000 44 45 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023637 76023637 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:76023637C>T ENST00000393004.2 - 5 2132 c.1911G>A c.(1909-1911)gaG>gaA p.E637E FILIP1_ENST00000370020.1_Silent_p.E538E|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.E637E Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 637 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCTTCAGTCTCTCAATTTCAA 0.418000 52 70 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2813976 2813976 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:2813976C>T ENST00000301740.8 + 11 3996 c.3447C>T c.(3445-3447)gaC>gaT p.D1149D NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1149 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CTACAGTGGACTCGAATTCTC 0.478000 13 57 0 0 1 0 0 PIK3C3 5289 broad.mit.edu 37 18 39647477 39647477 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:39647477G>A ENST00000262039.4 + 24 2735 c.2649_splice c.e24+1 p.Q883_splice PIK3C3_ENST00000588156.1_Splice_Site_p.Q107_splice|PIK3C3_ENST00000593098.1_Splice_Site_p.Q368_splice|PIK3C3_ENST00000398870.3_Splice_Site_p.Q820_splice|PIK3C3_ENST00000587328.1_Splice_Site_p.Q61_splice NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 883 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 AGTTTGCCCAGGTAAGTTCCC 0.488000 TSP Lung(28;0.18) 4 17 0 0 1 0 0 B3GALTL 145173 broad.mit.edu 37 13 31850896 31850896 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:31850896C>T ENST00000343307.4 + 10 987 c.838C>T c.(838-840)Cat>Tat p.H280Y B3GALTL_ENST00000461652.2_3'UTR NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 280 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) CAAGAAATTTCATGGTGACAG 0.313000 7 20 0 0 1 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261887 21261887 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:21261887G>A ENST00000311620.5 + 2 1073 c.1000G>A c.(1000-1002)Gat>Aat p.D334N NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 334 p.D334N(1) NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) GTGGGATGACGATGAAGTGGA 0.517000 16 18 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104185 53104185 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:53104185C>T ENST00000408890.4 + 1 837 c.821C>T c.(820-822)tCc>tTc p.S274F NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 274 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ACAACGCCTTCCTGCGGCAGC 0.637000 38 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596941 179596941 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179596941C>T ENST00000589042.1 - 57 16979 c.16755G>A c.(16753-16755)aaG>aaA p.K5585K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.K5268K|TTN_ENST00000342992.6_Silent_p.K4341K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5268 Ig-like 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCTGCTCTCCTTAATTTCTC 0.438000 52 63 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230456412 230456412 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:230456412G>A ENST00000341772.4 - 2 603 c.469C>T c.(469-471)Cct>Tct p.P157S NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 157 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGAGTAGCAGGAACAGGCTGA 0.552000 31 27 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10354108 10354108 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:10354108C>T ENST00000255381.2 - 29 4080 c.3970G>A c.(3970-3972)Gaa>Aaa p.E1324K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1324 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTCTCCTCTTCTAGCTGCCTC 0.388000 9 44 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89990063 89990063 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:89990063C>T ENST00000405460.2 + 33 7586 c.7490C>T c.(7489-7491)gCt>gTt p.A2497V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2497 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGTGGTCAGGCTGTGGCTGGG 0.468000 22 36 0 0 1 0 0 NAGA 4668 broad.mit.edu 37 22 42463799 42463799 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:42463799G>A ENST00000396398.3 - 3 826 c.294C>T c.(292-294)ttC>ttT p.F98F NAGA_ENST00000402937.1_Silent_p.F98F|NAGA_ENST00000403363.1_Silent_p.F98F NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 98 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TGCCATGAGGGAAGCGCTTGG 0.607000 30 51 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 96706317 96706317 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:96706317G>A ENST00000389672.5 + 3 632 c.594G>A c.(592-594)atG>atA p.M198I EPHA6_ENST00000542517.1_Missense_Mutation_p.M104I|EPHA6_ENST00000470610.2_Missense_Mutation_p.M198I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 103 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 ATGTGGAAATGAAATTCACAC 0.403000 14 22 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183095762 183095762 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:183095762C>T ENST00000435564.1 - 5 762 c.562G>A c.(562-564)Gat>Aat p.D188N PDE1A_ENST00000536095.1_Missense_Mutation_p.D84N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D154N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D188N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D188N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D188N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D172N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D172N|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.D188N NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 188 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.D188N(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTGATAAGATCATATCTGGTA 0.338000 30 29 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155267673 155267673 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:155267673C>T ENST00000460012.1 - 10 1532 c.1175G>A c.(1174-1176)gGa>gAa p.G392E PLCH1_ENST00000494598.1_Missense_Mutation_p.G410E|PLCH1_ENST00000447496.2_Missense_Mutation_p.G410E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G392E|PLCH1_ENST00000414191.1_Missense_Mutation_p.G392E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G410E Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 410 PI-PLC X-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.G392E(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCGAATATTCCTTTCAGGTA 0.438000 5 24 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231455 29231455 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:29231455C>T ENST00000441381.1 + 0 79 GTTGGGGGTTCATTATGGTCA 0.483000 27 151 0 0 1 0 0 TMEM106B 54664 broad.mit.edu 37 7 12258113 12258113 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:12258113C>T ENST00000396667.2 + 4 569 c.247C>T c.(247-249)Cca>Tca p.P83S TMEM106B_ENST00000396668.3_Missense_Mutation_p.P83S NM_018374.3 NP_060844.2 Q9NUM4 T106B_HUMAN transmembrane protein 106B 83 integral to membrane NS(1)|endometrium(8)|large_intestine(2)|lung(7) 18 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) GGCATTGATTCCATATAGTGA 0.308000 15 18 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72147103 72147103 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:72147103G>A ENST00000305425.4 - 4 1596 c.1174C>T c.(1174-1176)Cct>Tct p.P392S DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P444S|DACH1_ENST00000313174.7_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 442 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AGGCTGACAGGAATTAGAGGG 0.438000 5 17 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151124224 151124224 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:151124224G>A ENST00000370325.1 - 7 946 c.893C>T c.(892-894)tCc>tTc p.S298F GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.S298F P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 298 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GATCCAAAAGGAAACCCAGGA 0.512000 51 64 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402395 47402395 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:47402395G>A ENST00000310638.4 - 4 482 c.451C>T c.(451-453)Cac>Tac p.H151Y CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Missense_Mutation_p.H47Y|CYP4A11_ENST00000371905.1_Missense_Mutation_p.H151Y|CYP4A11_ENST00000371904.4_Missense_Mutation_p.H151Y NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 151 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) ATGTCATAGTGGAAGGCTGGG 0.542000 8 27 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41522698 41522698 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:41522698C>T ENST00000324071.4 + 9 1449 c.1442C>T c.(1441-1443)cCc>cTc p.P481L CYP2B6_ENST00000330446.5_Missense_Mutation_p.P281L|CYP2B6_ENST00000593831.1_Missense_Mutation_p.P245L NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 481 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GGCAAAATACCCCCAACATAC 0.582000 3 27 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223940531 223940531 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:223940531C>T ENST00000295006.5 + 9 1317 c.1008C>T c.(1006-1008)tcC>tcT p.S336S CAPN2_ENST00000433674.2_Silent_p.S258S NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 336 Calpain catalytic. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) GGCACTATTCCCGCCTGGAGA 0.507000 17 24 0 0 1 0 0 FAM81B 153643 broad.mit.edu 37 5 94756058 94756058 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:94756058A>G ENST00000283357.5 + 5 654 c.608A>G c.(607-609)aAc>aGc p.N203S NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 203 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) CACGAGATAAACATCAAACAC 0.403000 32 26 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10680264 10680264 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:10680264C>T ENST00000302079.6 - 47 7355 c.7356G>A c.(7354-7356)caG>caA p.Q2452Q PIEZO2_ENST00000538948.1_Silent_p.Q472Q|PIEZO2_ENST00000285141.4_Silent_p.Q307Q|PIEZO2_ENST00000580640.1_Silent_p.Q2540Q|PIEZO2_ENST00000503781.3_Silent_p.Q2515Q|PIEZO2_ENST00000581680.1_Intron Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2515 integral to membrane ion channel activity GTATCATTTTCTGCTTACTGG 0.378000 34 21 0 0 1 0 0 RAD18 56852 broad.mit.edu 37 3 8940727 8940727 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:8940727C>T ENST00000264926.2 - 11 1289 c.1173G>A c.(1171-1173)caG>caA p.Q391Q NM_020165.3 NP_064550.3 Q9NS91 RAD18_HUMAN RAD18 homolog (S. cerevisiae) 391 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3) 15 OV - Ovarian serous cystadenocarcinoma(96;0.0552) TATTATCTTCCTGTCCTAGGA 0.373000 Rad6 pathway 8 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611175 179611175 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179611175C>T ENST00000360870.5 - 46 16174 c.15952G>A c.(15952-15954)Gaa>Aaa p.E5318K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8830 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACGTCTTTTTCACTTAATTCA 0.383000 12 19 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130222754 130222754 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:130222754C>T ENST00000276211.5 + 12 1984 c.1639C>T c.(1639-1641)Cct>Tct p.P547S ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P411S|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P535S NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 547 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CTACTTCTTTCCTTAGATGTT 0.527000 18 27 0 0 1 0 0 CITED1 4435 broad.mit.edu 37 X 71522095 71522095 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:71522095C>T ENST00000246139.5 - 3 636 c.e3-1 CITED1_ENST00000373619.3_Splice_Site|CITED1_ENST00000445983.1_Splice_Site|CITED1_ENST00000431381.1_Splice_Site NM_004143.3 NP_004134.2 Q99966 CITE1_HUMAN Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway cytosol|nucleus chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding skin(1) 1 Renal(35;0.156) GGTTGGCATCCTAGAAGACAG 0.507000 6 11 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768340 31768340 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:31768340C>T ENST00000240587.4 - 2 2686 c.2359G>A c.(2359-2361)Gac>Aac p.D787N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 787 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) ATGGGCTGGTCGTTGTTGACG 0.597000 26 31 0 0 1 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291208 1291208 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:1291208G>A ENST00000461509.2 + 2 331 c.137G>A c.(136-138)aGg>aAg p.R46K TPSAB1_ENST00000338844.3_Missense_Mutation_p.R39K P20231 TRYB2_HUMAN tryptase alpha/beta 1 39 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) GAGGCCCCCAGGAGCAAGTGG 0.701000 18 53 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155212010 155212010 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:155212010C>T ENST00000460012.1 - 17 2369 c.2012G>A c.(2011-2013)cGa>cAa p.R671Q PLCH1_ENST00000494598.1_Missense_Mutation_p.R689Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R689Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R671Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R671Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R689Q Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 689 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTGCATCATTCGTCCTTCAGA 0.418000 9 16 0 0 1 0 0 ANKRD36BP1 84832 broad.mit.edu 37 1 168215769 168215769 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:168215769C>T ENST00000358576.4 - 0 812 NR_026844.1 lung(1) 1 GGCACCTGGACTTACTCTCAG 0.393000 6 6 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79313546 79313546 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:79313546C>T ENST00000305089.3 - 4 348 c.268G>A c.(268-270)Gag>Aag p.E90K NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 90 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 GTGCTACTCTCCTTAATCAGT 0.488000 25 11 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72937999 72937999 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:72937999C>T ENST00000328801.4 + 3 494 c.494C>T c.(493-495)tCc>tTc p.S165F NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 165 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CGGCCAGGTTCCCTAGTGCTC 0.647000 6 15 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39723557 39723557 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:39723557C>T ENST00000246662.4 - 7 1905 c.1840G>A c.(1840-1842)Gga>Aga p.G614R KRT9_ENST00000588431.1_Missense_Mutation_p.G381R NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 614 Tail. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) cttcctcctccgtagccgcca 0.532000 11 25 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92543137 92543137 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:92543137G>A ENST00000298047.6 + 12 9393 c.9376G>A c.(9376-9378)Gat>Aat p.D3126N FAT3_ENST00000525166.1_Missense_Mutation_p.D2976N|FAT3_ENST00000409404.2_Missense_Mutation_p.D3126N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3126 Cadherin 28. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGATGTGAATGATAACCCCCC 0.562000 TCGA Ovarian(4;0.039) 13 13 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56098217 56098217 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:56098217C>T ENST00000394555.2 - 9 1477 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K EFEMP1_ENST00000394554.1_Missense_Mutation_p.E348K|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E348K|EFEMP1_ENST00000424836.2_Missense_Mutation_p.E210K NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 348 EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3. negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAACACATTTCATCCTCCCGG 0.373000 9 28 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52946789 52946789 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:52946789G>A ENST00000354452.3 - 9 1259 c.648C>T c.(646-648)ttC>ttT p.F216F TCF4_ENST00000398339.1_Silent_p.F318F|TCF4_ENST00000564999.1_Silent_p.F216F|TCF4_ENST00000570177.2_Silent_p.F86F|TCF4_ENST00000568740.1_Silent_p.F191F|TCF4_ENST00000566279.1_Silent_p.F156F|TCF4_ENST00000356073.4_Silent_p.F216F|TCF4_ENST00000537578.1_Silent_p.F192F|TCF4_ENST00000568673.1_Silent_p.F192F|TCF4_ENST00000561831.3_Silent_p.F56F|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000544241.2_Silent_p.F145F|TCF4_ENST00000457482.3_Silent_p.F56F|TCF4_ENST00000570287.2_Silent_p.F56F|TCF4_ENST00000564403.2_Silent_p.F222F|TCF4_ENST00000564228.1_Silent_p.F145F|TCF4_ENST00000565018.2_Silent_p.F216F|TCF4_ENST00000567880.1_Silent_p.F156F|TCF4_ENST00000566286.1_Silent_p.F214F|TCF4_ENST00000537856.3_Silent_p.F86F|TCF4_ENST00000561992.1_Silent_p.F86F|TCF4_ENST00000543082.1_Silent_p.F174F|TCF4_ENST00000540999.1_Silent_p.F192F NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 216 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TACCTTGCATGAAGAAGGAGC 0.498000 12 9 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344203 248344203 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:248344203G>A ENST00000359682.2 + 1 916 c.916G>A c.(916-918)Gga>Aga p.G306R NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GAAGATCTTAGGAAAGGGCAA 0.403000 67 123 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13192546 13192546 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:13192546C>T ENST00000358552.3 + 6 1005 c.1005C>T c.(1003-1005)atC>atT p.I335I NFIX_ENST00000587260.1_Silent_p.I376I|NFIX_ENST00000397661.2_Silent_p.I377I|NFIX_ENST00000588228.1_Silent_p.I330I|NFIX_ENST00000587760.1_Silent_p.I369I|NFIX_ENST00000592199.1_Silent_p.I377I|NFIX_ENST00000585575.1_Silent_p.I369I|NFIX_ENST00000360105.4_Silent_p.I339I Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 377 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CGTCCATCATCCAGCAGTCGA 0.622000 17 41 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155156498 155156498 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:155156498C>T ENST00000368382.1 + 10 2180 c.2043C>T c.(2041-2043)ttC>ttT p.F681F TRIM46_ENST00000334634.4_Silent_p.F704F|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.F578F NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4 NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3 Q7Z4K8 TRI46_HUMAN tripartite motif containing 46 704 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGGTTTCCTTCCTGGATGCTG 0.667000 26 37 0 0 1 0 0 FIGF 2277 broad.mit.edu 37 X 15376147 15376147 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:15376147C>T ENST00000297904.3 - 3 899 c.470G>A c.(469-471)aGc>aAc p.S157N NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 157 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) GTACGAGGTGCTGGTGTTCAT 0.473000 43 70 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900743 151900743 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:151900743C>T ENST00000393900.3 - 3 411 c.58G>A c.(58-60)Gga>Aga p.G20R MAGEA12_ENST00000393869.3_Missense_Mutation_p.G20R|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.G20R NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 20 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AGGGCCTCTCCTTGGGCCTCA 0.622000 35 43 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60164169 60164169 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:60164169G>A ENST00000300187.6 + 1 395 c.118G>A c.(118-120)Gga>Aga p.G40R MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Missense_Mutation_p.G40R|MS4A14_ENST00000395005.2_Missense_Mutation_p.G40R|MS4A14_ENST00000395001.1_5'UTR NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 40 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 TTTTCTGAAGGGAGAGCCAAG 0.443000 4 12 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139906958 139906958 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:139906958G>A ENST00000265662.5 - 32 5313 c.5166C>T c.(5164-5166)atC>atT p.I1722I ABCA2_ENST00000341511.6_Silent_p.I1722I|ABCA2_ENST00000371605.3_Silent_p.I1721I Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1721 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGCGCACCGCGATCTTCCGCA 0.682000 30 6 0 0 1 0 0 MBD3 53615 broad.mit.edu 37 19 1581196 1581196 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:1581196G>A ENST00000590550.2 - 4 777 c.404C>T c.(403-405)cCc>cTc p.P135L MBD3_ENST00000156825.1_Missense_Mutation_p.P191L|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000434436.3_Missense_Mutation_p.P191L|MBD3_ENST00000592012.1_Missense_Mutation_p.P159L O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 191 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCGTGATGGGCATGGTGCT 0.652000 14 17 0 0 1 0 0 PRKCI 5584 broad.mit.edu 37 3 169940535 169940535 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:169940535C>T ENST00000295797.4 + 1 383 c.78C>T c.(76-78)gtC>gtT p.V26V NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 26 OPR.|Regulatory domain.|Required for interaction with RAB2. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CCCACCAGGTCCGGGTGAAAG 0.706000 6 11 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684294 75684294 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:75684294G>A ENST00000370855.5 - 17 1523 c.1410C>T c.(1408-1410)ttC>ttT p.F470F SLC44A5_ENST00000370859.3_Silent_p.F470F|SLC44A5_ENST00000535611.1_Silent_p.F340F NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 470 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ATGCAATGACGAAGTTTATAA 0.418000 26 74 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143088564 143088564 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:143088564C>T ENST00000275815.3 - 18 3003 c.2917G>A c.(2917-2919)Gga>Aga p.G973R NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 973 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TCCTTGAATCCCTGAATACTG 0.612000 21 23 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44681692 44681692 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:44681692G>A ENST00000454036.1 + 19 2619 c.2543G>A c.(2542-2544)aGc>aAc p.S848N SLC12A5_ENST00000243964.3_Missense_Mutation_p.S825N NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 848 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCTGAGGGCAGCATCGACGTT 0.577000 36 19 0 0 1 0 0 TMPPE 643853 broad.mit.edu 37 3 33135663 33135663 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:33135663G>A ENST00000342462.4 - 2 215 c.25C>T c.(25-27)Cta>Tta p.L9L GLB1_ENST00000399402.3_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 9 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 TTCGCGCCTAGGGACAGCTGC 0.582000 26 17 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524478 187524478 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:187524478G>A ENST00000441802.2 - 19 11411 c.11202C>T c.(11200-11202)ttC>ttT p.F3734F NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3734 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.F3734L(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGAGTTTCTGGAATACATTCA 0.463000 HNSCC(5;0.00058) 10 14 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56824744 56824744 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:56824744C>T ENST00000229201.4 - 9 981 c.827G>A c.(826-828)cGa>cAa p.R276Q TIMELESS_ENST00000553532.1_Missense_Mutation_p.R277Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R277Q NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 277 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GCCCCCAAATCGAGAATGCCT 0.438000 46 68 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48245080 48245080 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:48245080A>T ENST00000394747.1 - 10 1736 c.1387T>A c.(1387-1389)Tat>Aat p.Y463N ABCC11_ENST00000537808.1_Missense_Mutation_p.Y463N|ABCC11_ENST00000394748.1_Missense_Mutation_p.Y463N|ABCC11_ENST00000356608.2_Missense_Mutation_p.Y463N|ABCC11_ENST00000353782.5_Missense_Mutation_p.Y463N NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 463 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTCTGGACATAGAAAACAGGG 0.483000 51 64 0 0 1 0 0 OR5B21 219968 broad.mit.edu 37 11 58275110 58275110 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:58275110G>A ENST00000360374.2 - 1 468 c.469C>T c.(469-471)Cat>Tat p.H157Y NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCTGCTGCATGGATAGAGGCA 0.502000 8 8 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86888817 86888817 + Missense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:86888817G>T ENST00000373119.4 + 8 1763 c.1618G>T c.(1618-1620)Gta>Tta p.V540L KLHL4_ENST00000373114.4_Missense_Mutation_p.V540L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 540 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TCTAAATACTGTAGAAAGATG 0.418000 3 40 0.004672 0.00468064 1 1 0 ACOXL 55289 broad.mit.edu 37 2 111789271 111789271 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:111789271C>T ENST00000389811.4 + 16 1663 c.1439C>T c.(1438-1440)tCc>tTc p.S480F ACOXL_ENST00000439055.1_Missense_Mutation_p.S450F Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 480 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GCTTCTCTGTCCCTGGCACAC 0.502000 22 25 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31313488 31313488 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:31313488G>A ENST00000265071.2 + 8 1582 c.1317G>A c.(1315-1317)tcG>tcA p.S439S CDH6_ENST00000514738.1_Silent_p.S384S NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 439 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GAAATGGTTCGATTTTTACAT 0.393000 35 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584982 179584982 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179584982C>T ENST00000589042.1 - 81 23611 c.23387G>A c.(23386-23388)cGa>cAa p.R7796Q TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7479Q|TTN_ENST00000342992.6_Missense_Mutation_p.R6552Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7479 Ig-like 60. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCACGAATCGTGGAGGTTC 0.453000 13 18 0 0 1 0 0 PDK3 5165 broad.mit.edu 37 X 24517001 24517001 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:24517001C>T ENST00000441463.2 + 3 304 c.304C>T c.(304-306)Cca>Tca p.P102S PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Missense_Mutation_p.P102S NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 102 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 CCCTGAGGATCCACAGGTCTT 0.303000 13 11 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20544117 20544117 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:20544117G>A ENST00000504154.1 + 21 2396 c.2143_splice c.e21-1 p.G715_splice SLIT2_ENST00000503837.1_Splice_Site_p.G711_splice|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Splice_Site_p.G719_splice|SLIT2_ENST00000503823.1_Splice_Site_p.G707_splice NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 715 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGCGATTTAGGAAATGATGAC 0.408000 83 96 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631770 122631770 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:122631770T>C ENST00000195173.4 - 18 2945 c.2642A>G c.(2641-2643)aAc>aGc p.N881S SEMA5B_ENST00000451055.2_Missense_Mutation_p.N936S|SEMA5B_ENST00000357599.3_Missense_Mutation_p.N882S Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 882 TSP type-1 3. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGGCTCCGGGTTAGTGCACGT 0.711000 7 46 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35821177 35821177 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:35821177G>A ENST00000399989.1 + 2 1143 c.864G>A c.(862-864)atG>atA p.M288I MAGEB16_ENST00000399985.1_Missense_Mutation_p.M288I|MAGEB16_ENST00000399988.1_Missense_Mutation_p.M288I|MAGEB16_ENST00000399992.1_Missense_Mutation_p.M320I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.M288I NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 288 MAGE. p.M455I(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CCAGCAAGATGAAAGTCCTGG 0.498000 8 26 0 0 1 0 0 PRPH2 5961 broad.mit.edu 37 6 42689706 42689706 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:42689706G>A ENST00000230381.5 - 1 606 c.367C>T c.(367-369)Cgg>Tgg p.R123W NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 123 cell adhesion|visual perception integral to membrane p.R123W(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) AGCGAGCCCCGAAGCAGAAAG 0.547000 15 10 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908248 158908248 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:158908248G>A ENST00000368140.1 + 3 572 c.327G>A c.(325-327)caG>caA p.Q109Q PYHIN1_ENST00000392252.3_Silent_p.Q100Q|PYHIN1_ENST00000392254.2_Silent_p.Q109Q|PYHIN1_ENST00000368138.3_Silent_p.Q100Q|PYHIN1_ENST00000368135.4_Silent_p.Q109Q NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 109 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AGACGAAACAGAAAGAAGTGT 0.428000 23 36 0 0 1 0 0 MAP2K7 5609 broad.mit.edu 37 19 7977033 7977033 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:7977033G>A ENST00000545011.1 + 10 1270 c.e10-1 MAP2K7_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1) 19 Etoposide(DB00773) TCTTGCTCTAGCCTTACTAAA 0.602000 22 39 0 0 1 0 0 NKD2 85409 broad.mit.edu 37 5 1033491 1033491 + Silent SNP A A C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:1033491A>C ENST00000296849.5 + 5 436 c.207A>C c.(205-207)gcA>gcC p.A69A NKD2_ENST00000274150.4_Silent_p.A69A|NKD2_ENST00000537972.1_Silent_p.A69A NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 69 Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CCCTAGTGGCACTCCCCGCTG 0.682000 3 9 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732825 152732825 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:152732825G>A ENST00000368773.1 + 2 819 c.761G>A c.(760-762)aGa>aAa p.R254K KPRP_ENST00000606109.1_Missense_Mutation_p.R254K NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 254 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCACCAGCAGATGCCTTCCT 0.612000 31 28 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834450 101834450 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:101834450C>T ENST00000506729.1 - 1 270 c.99G>A c.(97-99)agG>agA p.R33R SLCO6A1_ENST00000379810.1_Silent_p.R33R|SLCO6A1_ENST00000379807.3_Silent_p.R33R|SLCO6A1_ENST00000513675.1_Silent_p.R33R|SLCO6A1_ENST00000389019.3_Silent_p.R33R Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 33 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CCTTGGCCCTCCTGTCCTTAG 0.607000 112 154 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70961825 70961825 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:70961825G>A ENST00000357250.6 - 28 2028 c.1870C>T c.(1870-1872)Cct>Tct p.P624S COL9A1_ENST00000320755.7_Missense_Mutation_p.P381S|COL9A1_ENST00000370499.4_Missense_Mutation_p.P381S|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 624 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ATACTCACAGGAAGCCCCTGG 0.483000 24 32 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26299688 26299688 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:26299688G>A ENST00000335473.7 + 31 5288 c.5038G>A c.(5038-5040)Gaa>Aaa p.E1680K MYO18B_ENST00000407587.2_Missense_Mutation_p.E1681K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1680K|MYO18B_ENST00000536204.1_3'UTR NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1680 Gln-rich.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTCTCTGGGGGAAAATTGCGT 0.542000 6 11 0 0 1 0 0 FUNDC2 65991 broad.mit.edu 37 X 154282877 154282877 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:154282877C>T ENST00000369498.3 + 5 754 c.500C>T c.(499-501)tCa>tTa p.S167L FUNDC2_ENST00000484175.1_3'UTR NM_023934.3 NP_076423.2 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 167 mitochondrion breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAGGTGGTGTCATTTGTGAAG 0.383000 59 73 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38028070 38028070 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:38028070G>A ENST00000445217.1 + 4 545 c.510G>A c.(508-510)ggG>ggA p.G170G ZNF793_ENST00000542455.1_Silent_p.G170G|ZNF793_ENST00000587143.1_Silent_p.G170G|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR Q6ZN11 ZN793_HUMAN zinc finger protein 793 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGCTTATGGGAAATTGCTTC 0.418000 8 7 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11732333 11732333 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:11732333G>A ENST00000304623.8 - 2 278 c.89C>T c.(88-90)tCc>tTc p.S30F CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S30F NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 30 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGGGCTCAGGGAACTCGTCTT 0.507000 28 30 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 86068206 86068206 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:86068206G>A ENST00000373131.1 + 8 1587 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q|DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 488 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AAGGAGCTGCGACTGGAGCTC 0.413000 8 7 0 0 1 0 0 TRIT1 54802 broad.mit.edu 37 1 40312904 40312904 + Missense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:40312904G>T ENST00000316891.5 - 8 1008 c.994C>A c.(994-996)Cgt>Agt p.R332S TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000537440.1_Missense_Mutation_p.R28S|TRIT1_ENST00000441669.2_Missense_Mutation_p.R250S|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000545233.1_Missense_Mutation_p.R86S|TRIT1_ENST00000537223.1_Missense_Mutation_p.R28S NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 332 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTCAAAAAACGGTTTTTAACC 0.353000 22 20 3.6726e-16 3.73462e-16 1 1 0 ITGAX 3687 broad.mit.edu 37 16 31374520 31374520 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:31374520G>A ENST00000268296.4 + 14 1656 c.1535G>A c.(1534-1536)gGg>gAg p.G512E ITGAX_ENST00000562522.1_Missense_Mutation_p.G512E NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 512 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GTTCTCTACGGGGAGCAGGGC 0.637000 56 79 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154516518 154516518 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:154516518G>A ENST00000368482.4 + 9 1421 c.583G>A c.(583-585)Gag>Aag p.E195K TDRD10_ENST00000368480.3_Missense_Mutation_p.E195K|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 195 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CGTCCGTGGGGAGGCGGGGCT 0.622000 18 101 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74701796 74701796 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:74701796G>A ENST00000370895.1 + 4 389 c.354G>A c.(352-354)aaG>aaA p.K118K TNNI3K_ENST00000370891.2_Silent_p.K118K|FPGT-TNNI3K_ENST00000370899.3_Silent_p.K118K|FPGT-TNNI3K_ENST00000557284.1_Silent_p.K118K|TNNI3K_ENST00000370893.1_Silent_p.K118K|TNNI3K_ENST00000326637.3_Silent_p.K17K Q59H18 TNI3K_HUMAN 17 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ATGAATGGAAGAAAAAAGTCA 0.308000 9 16 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143436032 143436032 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:143436032G>A ENST00000519651.1 - 2 157 c.54C>T c.(52-54)ttC>ttT p.F18F TSNARE1_ENST00000524325.1_Silent_p.F18F|TSNARE1_ENST00000307180.3_Silent_p.F18F|TSNARE1_ENST00000520166.1_Silent_p.F18F Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 18 F -> L (in dbSNP:rs7814359). vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AAGGTCCCCCGAAAGGGCCAC 0.612000 4 49 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587343 55587343 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:55587343C>T ENST00000333976.4 + 1 258 c.238C>T c.(238-240)Ccc>Tcc p.P80S NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CATCATTGCTCCCAAGATGTT 0.408000 38 42 0 0 1 0 0 TRGV3 6976 broad.mit.edu 37 7 38398350 38398350 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:38398350G>A ENST00000390346.2 - 0 299 GATCGCAAGTGATTTCAGCAG 0.488000 21 73 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965712 22965712 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:22965712C>T ENST00000374642.3 + 3 754 c.550C>T c.(550-552)Cga>Tga p.R184* C1QA_ENST00000402322.1_Nonsense_Mutation_p.R184* NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 184 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGGCCAGGTCCGACGCTCCCT 0.602000 14 61 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26351197 26351197 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:26351197C>T ENST00000335473.7 + 39 6273 c.6023C>T c.(6022-6024)tCa>tTa p.S2008L MYO18B_ENST00000407587.2_Missense_Mutation_p.S2009L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2008L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2008 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAGGAGCTTTCACAGGCGGCC 0.652000 11 14 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238048097 238048097 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:238048097G>A ENST00000366570.4 - 10 1520 c.1362C>T c.(1360-1362)tcC>tcT p.S454S RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 454 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACCACACAGGATGGTGTCT 0.488000 6 7 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125557560 125557560 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:125557560T>C ENST00000241305.3 - 6 975 c.821A>G c.(820-822)aAc>aGc p.N274S CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 274 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGACTGAGGGTTTATGCGGAT 0.527000 21 2 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79664553 79664553 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:79664553G>A ENST00000275034.4 - 35 4198 c.4031C>T c.(4030-4032)cCg>cTg p.P1344L PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1344 Bromo 2. insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding p.P1344L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) GAGATCTACCGGCTGACGGAA 0.348000 6 9 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244709 100244709 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:100244709C>T ENST00000160382.5 - 10 928 c.e10-1 NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGCAGCCACCCTACCCAGAAG 0.617000 20 38 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175328826 175328826 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:175328826G>A ENST00000367674.1 - 15 3604 c.2896C>T c.(2896-2898)Cca>Tca p.P966S TNR_ENST00000263525.2_Missense_Mutation_p.P966S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 966 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCTTCTGTTGGAGTGATATTG 0.498000 18 32 0 0 1 0 0 PHKG2 5261 broad.mit.edu 37 16 30762446 30762446 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:30762446C>T ENST00000563588.1 + 3 354 c.115C>T c.(115-117)Cgc>Tgc p.R39C RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.R39C|PHKG2_ENST00000328273.7_Missense_Mutation_p.R39C NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 39 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) CTCTGTGGTCCGCCGTTGTGT 0.582000 23 23 0 0 1 0 0 PALM 5064 broad.mit.edu 37 19 746418 746418 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:746418C>T ENST00000264560.7 + 8 830 c.636C>T c.(634-636)acC>acT p.T212T PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Silent_p.T256T NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 256 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) CGGCAGAGACCCGGGGGGCTG 0.736000 9 10 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141755813 141755813 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:141755813C>T ENST00000475668.2 + 29 3551 c.3497C>T c.(3496-3498)tCc>tTc p.S1166F MGAM_ENST00000549489.2_Missense_Mutation_p.S1166F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1166 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.S1166F(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAGAAGAATTCCTATGGTGTC 0.498000 6 13 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135323391 135323391 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:135323391G>A ENST00000316077.9 - 5 683 c.463C>T c.(463-465)Ctt>Ttt p.L155F MAP7D3_ENST00000370661.1_Missense_Mutation_p.L155F|MAP7D3_ENST00000370663.5_Missense_Mutation_p.L137F NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 155 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TCATCAGCAAGTCTCCTCCGT 0.323000 22 36 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16883983 16883983 + Silent SNP C C T rs148295009 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:16883983C>T ENST00000524140.2 + 11 2875 c.2457C>T c.(2455-2457)ttC>ttT p.F819F NWD1_ENST00000549814.1_Silent_p.F819F|NWD1_ENST00000339803.6_Silent_p.F684F|NWD1_ENST00000523826.1_Silent_p.F613F|NWD1_ENST00000379808.3_Silent_p.F819F|NWD1_ENST00000552788.1_Silent_p.F819F NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 819 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCCATTTCTTCGCCACCTCAC 0.582000 29 29 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71004162 71004162 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:71004162T>C ENST00000357250.6 - 5 562 c.404A>G c.(403-405)gAt>gGt p.D135G COL9A1_ENST00000370496.3_Missense_Mutation_p.D135G NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 135 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCCAGAGGAATCCTGAATCTG 0.438000 34 43 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564267 176564267 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:176564267G>A ENST00000367662.3 + 3 2691 c.1527G>A c.(1525-1527)ttG>ttA p.L509L PAPPA2_ENST00000367661.3_Silent_p.L509L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 509 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATGTGGAATTGATCTCCCAGT 0.532000 5 40 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28828809 28828809 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:28828809C>T ENST00000422425.2 + 41 3062 c.3018C>T c.(3016-3018)acC>acT p.T1006T PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Silent_p.T1017T NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1017 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CCCTTTGGACCAATATGGTAA 0.527000 25 71 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19838948 19838948 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:19838948G>A ENST00000507958.1 - 5 1138 c.148C>T c.(148-150)Cgt>Tgt p.R50C CDH18_ENST00000502796.1_Missense_Mutation_p.R50C|CDH18_ENST00000382275.1_Missense_Mutation_p.R50C|CDH18_ENST00000274170.4_Missense_Mutation_p.R50C|CDH18_ENST00000511273.1_Missense_Mutation_p.R50C|CDH18_ENST00000506372.1_Missense_Mutation_p.R50C Q13634 CAD18_HUMAN cadherin 18, type 2 50 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R50C(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTTTTGGGACGATGATGGACT 0.418000 17 14 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149828911 149828911 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:149828911G>A ENST00000370396.2 + 13 1475 c.1421G>A c.(1420-1422)cGa>cAa p.R474Q MTM1_ENST00000413012.2_Missense_Mutation_p.R437Q|MTM1_ENST00000543350.1_Missense_Mutation_p.R359Q|MTM1_ENST00000542741.1_Missense_Mutation_p.R379Q|MTM1_ENST00000306167.7_3'UTR NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 474 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) TATAGTTGCCGATTTGGTACT 0.313000 13 19 0 0 1 0 0 GAB1 2549 broad.mit.edu 37 4 144381609 144381609 + Missense_Mutation SNP C C A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:144381609C>A ENST00000262995.4 + 9 2289 c.1862C>A c.(1861-1863)cCc>cAc p.P621H GAB1_ENST00000505913.1_Missense_Mutation_p.P488H|GAB1_ENST00000262994.4_Missense_Mutation_p.P591H NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 591 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) AATTATGTTCCCATGAACCCA 0.448000 50 56 1.86277e-20 1.89778e-20 1 1 0 CCDC11 220136 broad.mit.edu 37 18 47769279 47769279 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:47769279G>A ENST00000398545.4 - 6 1321 c.1204C>T c.(1204-1206)Caa>Taa p.Q402* NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 402 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) CACTTTTCTTGAACTTGAAGT 0.363000 33 76 0 0 1 0 0 PROX2 283571 broad.mit.edu 37 14 75329636 75329636 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:75329636C>T ENST00000556489.2 - 1 901 c.902G>A c.(901-903)gGa>gAa p.G301E PROX2_ENST00000445876.1_Missense_Mutation_p.G301E|PROX2_ENST00000556084.2_Intron NM_001243007.1 NP_001229936.1 Q3B8N5 PROX2_HUMAN prospero homeobox 2 301 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) TGATAAATTTCCTACTGGGAC 0.557000 47 6 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75157198 75157198 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:75157198C>T ENST00000342232.4 - 4 1511 c.1471G>A c.(1471-1473)Ggg>Agg p.G491R NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 491 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) AGTCTCGCCCCTGAGCTGGGG 0.562000 78 55 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88732565 88732565 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:88732565G>A ENST00000226284.5 + 7 524 c.457G>A c.(457-459)Gaa>Aaa p.E153K NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 153 Asp/Glu-rich (acidic).|Poly-Glu. biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) TGATgaagaagaagaggagga 0.413000 16 8 0 0 1 0 0 LMF1 64788 broad.mit.edu 37 16 921242 921242 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:921242G>A ENST00000262301.11 - 7 1015 c.997C>T c.(997-999)Ccc>Tcc p.P333S LMF1_ENST00000399843.2_Missense_Mutation_p.P333S|LMF1_ENST00000543238.1_Missense_Mutation_p.P96S|LMF1_ENST00000568897.1_Missense_Mutation_p.P116S|LMF1_ENST00000568268.1_5'UTR NM_022773.2 NP_073610.2 Q96S06 LMF1_HUMAN lipase maturation factor 1 333 endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 18 Hepatocellular(780;0.00308) GGCCCAGAGGGGAACAAGAAT 0.642000 10 14 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148407109 148407109 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:148407109C>T ENST00000324300.5 + 2 791 c.276C>T c.(274-276)atC>atT p.I92I EDNRA_ENST00000506066.1_Silent_p.I92I|EDNRA_ENST00000358556.4_Silent_p.I92I|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.I92I NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 92 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CTATTTTCATCGTGGGAATGG 0.443000 35 69 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52555399 52555399 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:52555399C>T ENST00000321725.6 + 56 6007 c.5931C>T c.(5929-5931)agC>agT p.S1977S NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1977 Laminin EGF-like 2. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCCCAGCAGCCCTTGTAGTG 0.632000 32 31 0 0 1 0 0 KLK4 9622 broad.mit.edu 37 19 51411875 51411875 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:51411875C>T ENST00000324041.1 - 3 434 c.435G>A c.(433-435)ggG>ggA p.G145G KLK4_ENST00000431178.2_Silent_p.G96G NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 145 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GGCAAGAGTTCCCCGCGGTAG 0.612000 15 34 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2163283 2163283 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:2163283G>A ENST00000262304.4 - 12 3072 c.2864C>T c.(2863-2865)cCc>cTc p.P955L RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.P955L NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 955 PKD 4. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTCCACCACGGGGCTGTACCT 0.612000 61 86 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70465074 70465074 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:70465074C>T ENST00000503640.1 - 2 809 c.754G>A c.(754-756)Gaa>Aaa p.E252K UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E261K|UGT2A1_ENST00000286604.4_Missense_Mutation_p.E296K|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E252K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.E462K NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 252 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 AACCAAATTTCAGCTTTCCCC 0.393000 7 19 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656328 19656328 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:19656328G>A ENST00000586018.1 + 8 3094 c.2992G>A c.(2992-2994)Gag>Aag p.E998K CILP2_ENST00000291495.4_Missense_Mutation_p.E992K Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 992 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 AGCCTGCGTGGAGTTCAAGTG 0.701000 19 17 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848879 54848879 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:54848879G>A ENST00000291759.4 - 5 800 c.744C>T c.(742-744)gtC>gtT p.V248V NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 248 Ig-like C2-type 3. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TGATGTAGCCGACATCAGAGC 0.657000 18 10 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80382693 80382693 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:80382693G>A ENST00000265080.4 + 9 1378 c.1311G>A c.(1309-1311)agG>agA p.R437R RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 437 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AAAACATAAGGAAAAACCTTG 0.473000 18 17 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73046784 73046784 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:73046784C>T ENST00000604411.1 + 0 34745 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTCAGGCCTTCGGTCCAATTC 0.483000 38 34 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45368754 45368754 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:45368754C>T ENST00000252483.5 + 2 315 c.315C>T c.(313-315)ttC>ttT p.F105F PVRL2_ENST00000252485.4_Silent_p.F105F NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 105 Ig-like V-type. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GGCTGTCCTTCGTCTCTGCCA 0.652000 5 8 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53819603 53819603 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:53819603G>A ENST00000257863.4 + 6 832 c.752G>A c.(751-753)gGc>gAc p.G251D AMHR2_ENST00000379791.3_Missense_Mutation_p.G251D|AMHR2_ENST00000550311.1_Missense_Mutation_p.G251D NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 251 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) GAACTTCCAGGCCTACAGCAC 0.602000 29 33 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710992 140710992 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:140710992C>T ENST00000517417.1 + 1 741 c.741C>T c.(739-741)taC>taT p.Y247Y PCDHGA1_ENST00000378105.3_Silent_p.Y247Y NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCACAATACCATATAAATG 0.502000 21 4 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141762434 141762434 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:141762434G>A ENST00000475668.2 + 35 4243 c.4189G>A c.(4189-4191)Gaa>Aaa p.E1397K MGAM_ENST00000549489.2_Missense_Mutation_p.E1397K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1397 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTGGAAGAGGGAAATAGAAGA 0.408000 8 6 0 0 1 0 0 RTCB 51493 broad.mit.edu 37 22 32793981 32793981 + Missense_Mutation SNP A A C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:32793981A>C ENST00000216038.5 - 7 859 c.761T>G c.(760-762)gTg>gGg p.V254G RTCB_ENST00000451746.2_Intron NM_014306.4 NP_055121.1 RNA 2',3'-cyclic phosphate and 5'-OH ligase CATCACACACACCTGTCCCTT 0.458000 33 50 0 0 1 0 0 IGKV1D-42 28892 broad.mit.edu 37 2 90229425 90229425 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:90229425C>T ENST00000390278.2 + 0 265 GGGGTCTCATCGAGGTTCAGT 0.478000 43 27 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166166906 166166906 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:166166906C>T ENST00000375437.2 + 7 1061 c.771C>T c.(769-771)ttC>ttT p.F257F SCN2A_ENST00000283256.6_Silent_p.F257F|SCN2A_ENST00000375427.2_Silent_p.F257F|SCN2A_ENST00000357398.3_Silent_p.F257F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 257 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TGACTGTGTTCTGTCTAAGCG 0.428000 69 65 0 0 1 0 0 AQP3 360 broad.mit.edu 37 9 33443839 33443839 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:33443839C>T ENST00000297991.4 - 2 240 c.160G>A c.(160-162)Ggt>Agt p.G54S AQP3_ENST00000493581.1_5'UTR NM_004925.4 NP_004916.1 Q92482 AQP3_HUMAN aquaporin 3 (Gill blood group) 54 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) AGGAAACCACCGTGGGTGCCC 0.607000 10 2 0 0 1 0 0 CCR7 1236 broad.mit.edu 37 17 38711757 38711757 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:38711757C>T ENST00000246657.2 - 3 436 c.374G>A c.(373-375)gGt>gAt p.G125D CCR7_ENST00000579344.1_Missense_Mutation_p.G119D NM_001838.3 NP_001829.1 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 125 cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 Breast(137;0.000496) AAAGTGGACACCGAAGACCCA 0.547000 12 24 0 0 1 0 0 NAT6 24142 broad.mit.edu 37 3 50334688 50334688 + Silent SNP G G A rs35565547 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:50334688G>A ENST00000443842.1 - 2 1014 c.207C>T c.(205-207)ccC>ccT p.P69P HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000417393.1_Silent_p.P69P|HYAL3_ENST00000450982.1_Intron|NAT6_ENST00000443094.2_Silent_p.P69P|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000354862.4_Silent_p.P91P|HYAL3_ENST00000336307.1_Intron N-acetyltransferase 6 (GCN5-related) endometrium(3)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCAGGAGCTCGGGTCGGCGGT 0.642000 33 16 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76465400 76465400 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:76465400C>T ENST00000396423.2 + 5 707 c.583C>T c.(583-585)Cct>Tct p.P195S HNF4G_ENST00000354370.1_Missense_Mutation_p.P158S NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 158 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TAAATATATTCCTGCCTTCTG 0.338000 24 34 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3149415 3149415 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:3149415C>T ENST00000359864.2 + 12 1371 c.1181C>T c.(1180-1182)aCc>aTc p.T394I TEAD4_ENST00000397122.2_Missense_Mutation_p.T265I|TEAD4_ENST00000358409.2_Missense_Mutation_p.T351I NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 394 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GAGAACTTCACCATCCTGCAG 0.567000 22 36 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38128990 38128990 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:38128990G>A ENST00000339363.3 - 18 3119 c.2952C>T c.(2950-2952)atC>atT p.I984I TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Silent_p.I779I|RPGR_ENST00000338898.3_3'UTR|RPGR_ENST00000309513.3_Silent_p.I717I Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 984 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 TTTTTAAAATGATCTGGTCTC 0.368000 33 38 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124597028 124597028 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:124597028G>A ENST00000368904.1 - 6 1440 c.491C>T c.(490-492)tCc>tTc p.S164F CUZD1_ENST00000392790.1_Missense_Mutation_p.S164F|CUZD1_ENST00000545804.1_Missense_Mutation_p.S164F Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 164 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GCTGGTGAAGGATCCTTCCAA 0.418000 22 4 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148891409 148891409 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:148891409C>T ENST00000261798.5 - 6 1055 c.623G>A c.(622-624)gGa>gAa p.G208E CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.G208E|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 208 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CAAAACATATCCTAATGATTC 0.333000 4 38 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75840598 75840598 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:75840598C>T ENST00000322507.8 - 36 6346 c.6037G>A c.(6037-6039)Gga>Aga p.G2013R COL12A1_ENST00000416123.2_Missense_Mutation_p.G2013R|COL12A1_ENST00000345356.6_Missense_Mutation_p.G849R|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2013R NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2013 Fibronectin type-III 15. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTGGGATTTCCCTCTCCATCC 0.542000 14 14 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676380 123676380 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:123676380G>A ENST00000309154.2 - 1 715 c.678C>T c.(676-678)ccC>ccT p.P226P NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) CCTGGGTGGAGGGGATACGCA 0.498000 5 15 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714062 70714062 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:70714062G>A ENST00000530196.1 - 0 456 NR_003951.1 CAGTCATCTGGGATGAAGAGC 0.468000 6 29 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718360 103718360 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:103718360G>A ENST00000245312.3 - 1 836 c.240C>T c.(238-240)ccC>ccT p.P80P NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 80 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATCCTGTGAGGGGCATGATTC 0.527000 18 45 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96058182 96058182 + Silent SNP T T G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:96058182T>G ENST00000260766.3 + 24 5848 c.5214T>G c.(5212-5214)ccT>ccG p.P1738P PLCE1_ENST00000371375.1_Silent_p.P1430P|PLCE1_ENST00000371385.3_Silent_p.P1430P|PLCE1_ENST00000371380.2_Silent_p.P1738P NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1738 PI-PLC Y-box.|Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity). activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CTTCTTCCCCTCTCAACCCAA 0.453000 38 3 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179654825 179654825 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179654825C>T ENST00000589042.1 - 12 2042 c.1818G>A c.(1816-1818)agG>agA p.R606R TTN_ENST00000460472.2_Silent_p.R560R|TTN_ENST00000360870.5_Silent_p.R606R|TTN_ENST00000359218.5_Silent_p.R560R|TTN_ENST00000342175.6_Silent_p.R560R|TTN_ENST00000591111.1_Silent_p.R606R|TTN_ENST00000342992.6_Silent_p.R606R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 606 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACTGTTTTCCTAGTTTCCT 0.313000 13 23 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:102516424G>T ENST00000557932.1 + 0 1372 p.P449P(4) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGCCGCCACCGCAGCAGCCAC 0.647000 5 42 0.184627 0.184627 1 1 0 GIMAP8 155038 broad.mit.edu 37 7 150171666 150171666 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:150171666G>A ENST00000307271.3 + 4 1823 c.1249G>A c.(1249-1251)Gaa>Aaa p.E417K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 417 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) CGAGCTCCTGGAAAAAATTGA 0.403000 51 28 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49114342 49114342 + Nonsense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:49114342T>A ENST00000395443.2 - 2 581 c.109A>T c.(109-111)Aag>Tag p.K37* QRICH1_ENST00000424300.1_Nonsense_Mutation_p.K37*|QRICH1_ENST00000357496.2_Nonsense_Mutation_p.K37* NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 37 CARD. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TCTGGCCCCTTAGAGGCCAGT 0.527000 23 56 0 0 1 0 0 PSMD1 5707 broad.mit.edu 37 2 232010990 232010990 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:232010990C>T ENST00000308696.6 + 18 2197 c.2035C>T c.(2035-2037)Ccc>Tcc p.P679S PSMD1_ENST00000373635.4_Missense_Mutation_p.P679S|PSMD1_ENST00000409643.1_Missense_Mutation_p.P679S NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 679 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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GACAAACGACCCCGTGAACTA 0.383000 24 42 0 0 1 0 0 ZDHHC4 55146 broad.mit.edu 37 7 6628267 6628267 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:6628267C>T ENST00000396706.2 + 8 1204 c.761C>T c.(760-762)cCa>cTa p.P254L ZDHHC4_ENST00000335965.6_Missense_Mutation_p.P254L|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.P254L|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.P254L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.P254L|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.P254L Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 254 integral to membrane acyltransferase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) CTGACTTTTCCACGGATTGTC 0.532000 49 85 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863396 23863396 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:23863396C>T ENST00000405093.3 - 21 2636 c.2566G>A c.(2566-2568)Gaa>Aaa p.E856K MYH6_ENST00000356287.3_Missense_Mutation_p.E856K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 856 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCGAACTCTTCCTTCATGGTG 0.562000 46 4 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45267296 45267296 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:45267296C>T ENST00000372201.4 + 4 677 c.438C>T c.(436-438)tcC>tcT p.S146S PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 146 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CTCTGCAGTCCCTGGCCCACA 0.642000 6 35 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175063237 175063237 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:175063237C>T ENST00000239462.4 + 7 1549 c.1436C>T c.(1435-1437)tCt>tTt p.S479F NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 479 Fibronectin type-III 3. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CGCTACACTTCTGCTGATGGG 0.537000 12 22 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61747755 61747755 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:61747755C>T ENST00000577390.1 - 10 2598 c.1644G>A c.(1642-1644)aaG>aaA p.K548K CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000299345.6_Silent_p.K548K|CDH8_ENST00000577730.1_Silent_p.K548K NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 548 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTTCATTTTTCTTGATGGTGA 0.313000 5 11 0 0 1 0 0 TOM1L2 146691 broad.mit.edu 37 17 17750954 17750954 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:17750954G>A ENST00000581396.1 - 14 1465 c.1369C>T c.(1369-1371)Ctg>Ttg p.L457L TOM1L2_ENST00000379504.3_Silent_p.L507L|TOM1L2_ENST00000542206.1_Silent_p.L388L|TOM1L2_ENST00000318094.10_Silent_p.L462L|TOM1L2_ENST00000540946.1_Silent_p.L389L|TOM1L2_ENST00000478943.1_Silent_p.L240L|TOM1L2_ENST00000395739.4_Silent_p.L462L|TOM1L2_ENST00000535933.1_Silent_p.L483L NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 507 intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) GCTGCTCACAGGGCGAAGAGG 0.682000 25 11 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962840 73962840 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:73962840C>T ENST00000373468.1 - 3 2203 c.1552G>A c.(1552-1554)Gaa>Aaa p.E518K KIAA2022_ENST00000055682.5_Missense_Mutation_p.E518K Q5QGS0 K2022_HUMAN KIAA2022 518 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCATCATCTTCCTCTTTGGAA 0.378000 13 26 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703474 4703474 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:4703474G>A ENST00000396950.3 - 2 707 c.468C>T c.(466-468)ttC>ttT p.F156F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GAGGCAGTGGGAAAAAAAAGA 0.552000 10 17 0 0 1 0 0 OSM 5008 broad.mit.edu 37 22 30659929 30659929 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:30659929C>T ENST00000215781.2 - 3 742 c.702G>A c.(700-702)agG>agA p.R234R OSM_ENST00000403389.1_Silent_p.R213R NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 234 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) AGGGTCTGGTCCTGCGCACCC 0.667000 85 91 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228553785 228553785 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:228553785C>T ENST00000570156.2 + 94 22019 c.21945C>T c.(21943-21945)tcC>tcT p.S7315S OBSCN_ENST00000422127.1_Silent_p.S6358S|OBSCN_ENST00000366707.4_Silent_p.S3992S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6358 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCCCCATCCATGCAGGTAA 0.627000 32 45 0 0 1 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29230622 29230622 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:29230622G>A ENST00000441381.1 + 0 79 AATGAGATGGGAGAAACAGGT 0.423000 40 40 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41990568 41990568 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:41990568C>T ENST00000372584.1 - 5 6235 c.5221G>A c.(5221-5223)Gaa>Aaa p.E1741K HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E1741K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E1741K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E1741K NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1741 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) ACATACTCTTCGTTTGATTTG 0.493000 9 37 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152426748 152426748 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:152426748C>T ENST00000397345.3 - 109 17479 c.17277G>A c.(17275-17277)caG>caA p.Q5759Q NEB_ENST00000603639.1_Silent_p.Q5759Q|NEB_ENST00000409198.1_Silent_p.Q4058Q|NEB_ENST00000172853.10_Silent_p.Q4058Q|NEB_ENST00000604864.1_Silent_p.Q5759Q|NEB_ENST00000427231.2_Silent_p.Q5759Q NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5772 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCACAGGGCTCTGGATCTTGG 0.542000 7 24 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35852844 35852844 + Missense_Mutation SNP C C A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:35852844C>A ENST00000314607.6 + 12 2157 c.2077C>A c.(2077-2079)Ctt>Att p.L693I ZMYM4_ENST00000373297.2_Missense_Mutation_p.L604I NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 693 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGTAACCGTCTTTTTGCCAC 0.413000 20 9 7.45023e-12 7.56893e-12 1 1 0 KDM5B 10765 broad.mit.edu 37 1 202702925 202702925 + Silent SNP G G A rs141812947 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:202702925G>A ENST00000367265.3 - 23 4677 c.3513C>T c.(3511-3513)ctC>ctT p.L1171L KDM5B_ENST00000367264.2_Silent_p.L1207L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1171 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CCACATCTTGGAGAGGCGACA 0.498000 27 57 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763923 77763923 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:77763923A>T ENST00000521891.2 + 10 5214 c.4766A>T c.(4765-4767)gAt>gTt p.D1589V ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1544V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1563V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1544V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1544 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCAACACAGATAACAAACCC 0.453000 HNSCC(33;0.089) 19 31 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100524 110100524 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:110100524G>A ENST00000518632.1 + 2 1134 c.783G>A c.(781-783)agG>agA p.R261R TRHR_ENST00000311762.2_Silent_p.R261R P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 261 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TATCTTCAAGGAAGCAGGTAA 0.383000 14 9 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181722 128181722 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:128181722G>A ENST00000469083.1 - 2 2924 c.367C>T c.(367-369)Cgt>Tgt p.R123C DNAJB8_ENST00000319153.3_Missense_Mutation_p.R123C Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 123 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) CGGCCACCACGGTCACTATTG 0.582000 28 10 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863590 55863590 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:55863590G>A ENST00000327335.4 - 1 332 c.333C>T c.(331-333)ttC>ttT p.F111F RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 CAGCTAGAAGGAAAAATTCTG 0.388000 15 25 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102955420 102955420 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:102955420G>A ENST00000311734.2 + 3 524 c.185G>A c.(184-186)aGa>aAa p.R62K IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000393393.3_Missense_Mutation_p.R62K|IL1RL1_ENST00000409584.1_Missense_Mutation_p.R62K|IL1RL1_ENST00000233954.1_Missense_Mutation_p.R62K Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 62 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ACTCAGGAAAGAAATCGTGTG 0.393000 54 74 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707515 50707515 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:50707515C>T ENST00000330943.4 - 4 924 c.753G>A c.(751-753)gaG>gaA p.E251E SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 251 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 GCAGGGCCCTCTCTCCGGCCG 0.751000 13 15 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77288693 77288693 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:77288693C>T ENST00000388914.3 - 11 1736 c.1584G>A c.(1582-1584)ttG>ttA p.L528L NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 528 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CCTGCAATTTCAAGTCCACCC 0.488000 25 31 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48601490 48601490 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:48601490C>T ENST00000354276.3 - 6 801 c.474G>A c.(472-474)atG>atA p.M158I PLA2G4C_ENST00000599921.1_Missense_Mutation_p.M158I|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.M158I|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.M168I NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 158 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CGGGCTTCTTCATATTGGACA 0.552000 29 18 0 0 1 0 0 C2orf48 348738 broad.mit.edu 37 2 10282434 10282434 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:10282434C>T ENST00000381786.3 + 3 414 c.125C>T c.(124-126)cCc>cTc p.P42L NM_182626.2 NP_872432.1 Q96LS8 CB048_HUMAN chromosome 2 open reading frame 48 42 endometrium(1)|lung(7) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188) aaagggaatcccctgcttctg 0.557000 83 46 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48613143 48613143 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:48613143C>T ENST00000328333.8 - 72 6002 c.5895G>A c.(5893-5895)gaG>gaA p.E1965E COL7A1_ENST00000454817.1_Silent_p.E1933E NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1965 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TACCAGAGCTCTCATCCCAGG 0.672000 20 34 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057898 9057898 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:9057898C>T ENST00000397910.4 - 3 29751 c.29548G>A c.(29548-29550)Gac>Aac p.D9850N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9852 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGTATCGTCCACAGCGGAG 0.473000 13 51 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242264025 242264025 + Silent SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:242264025G>T ENST00000442594.2 - 10 1532 c.1023C>A c.(1021-1023)acC>acA p.T341T PLD5_ENST00000427495.1_Silent_p.T371T|PLD5_ENST00000536534.1_Silent_p.T433T NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 433 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ACCTAGGAAAGGTGTGATTCT 0.428000 24 42 1.13719e-10 1.15207e-10 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145304477 145304477 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:145304477C>T ENST00000342960.5 + 10 1445 c.1410C>T c.(1408-1410)gtC>gtT p.V470V NBPF10_ENST00000369339.2_Silent_p.V199V|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.V199V NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 470 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAAAGGAAGTCCCTGAGGACT 0.483000 40 142 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854317 88854317 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:88854317C>T ENST00000537554.1 - 2 4239 c.677G>A c.(676-678)aGg>aAg p.R226K CNR1_ENST00000549890.1_Missense_Mutation_p.R226K|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.R226K|CNR1_ENST00000428600.2_Missense_Mutation_p.R226K|CNR1_ENST00000535130.1_Missense_Mutation_p.R226K|CNR1_ENST00000468898.1_Missense_Mutation_p.R193K|CNR1_ENST00000369501.2_Missense_Mutation_p.R226K|CNR1_ENST00000549716.1_Missense_Mutation_p.R165K NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 226 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GGTGACAATCCTCTTATAGGC 0.597000 10 13 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55795008 55795008 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:55795008G>A ENST00000379665.2 + 1 795 c.696G>A c.(694-696)agG>agA p.R232R NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 CCCAGCAAAGGAAAAAGGCTT 0.398000 40 56 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56911988 56911988 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:56911988C>T ENST00000520220.2 + 12 1427 c.1153C>T c.(1153-1155)Cct>Tct p.P385S LYN_ENST00000519728.1_Missense_Mutation_p.P406S NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 406 Protein kinase. D -> Y (in a breast pleomorphic lobular carcinoma sample; somatic mutation). erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TGCTAAGTTCCCTATTAAGTG 0.373000 7 52 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102069922 102069922 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:102069922C>T ENST00000369138.1 + 2 704 c.214C>T c.(214-216)Ccc>Tcc p.P72S GRIK2_ENST00000318991.6_Missense_Mutation_p.P72S|GRIK2_ENST00000358361.3_Missense_Mutation_p.P72S|GRIK2_ENST00000421544.1_Missense_Mutation_p.P72S|GRIK2_ENST00000369134.4_Missense_Mutation_p.P23S|GRIK2_ENST00000369137.3_Missense_Mutation_p.P72S|GRIK2_ENST00000413795.1_Missense_Mutation_p.P72S NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 72 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AACATTGCTACCCAATACTAC 0.363000 6 13 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143039598 143039598 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:143039598G>A ENST00000343257.2 + 16 2017 c.1930_splice c.e16+1 p.D644_splice NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 644 CBS 1. muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGACTCAAAAGGTCAGTGGGG 0.512000 24 19 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6173030 6173030 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:6173030G>A ENST00000262450.3 - 34 5040 c.4941C>T c.(4939-4941)atC>atT p.I1647I CHD5_ENST00000378021.1_Silent_p.I504I NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1647 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCTTGTCCAGGATCTTCTCCT 0.577000 8 52 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12595230 12595230 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:12595230C>T ENST00000378847.3 + 2 436 c.99C>T c.(97-99)gcC>gcT p.A33A CAMK1D_ENST00000487696.1_Intron|CAMK1D_ENST00000378845.1_Silent_p.A33A NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 33 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) ACAGCGGGGCCTTTTCCGAAG 0.463000 32 5 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94643191 94643191 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:94643191C>T ENST00000260526.6 - 22 3064 c.2882G>A c.(2881-2883)gGa>gAa p.G961E ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 961 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ATCACATTTTCCTAACGCATT 0.368000 17 42 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781738 128781738 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:128781738C>T ENST00000529694.1 + 2 946 c.570C>T c.(568-570)atC>atT p.I190I KCNJ5_ENST00000338350.4_Silent_p.I190I|KCNJ5_ENST00000533599.1_Silent_p.I190I NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 190 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TTGTCAAGATCAGCCAGCCCA 0.557000 33 37 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245843 46245843 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:46245843C>T ENST00000334344.6 + 15 4109 c.3937C>T c.(3937-3939)Caa>Taa p.Q1313* ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q923*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1164* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1313 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGGGAAAATTCAAAGTGAGAC 0.398000 """N, S, F""" hepatocellular carcinoma 17 3 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41203247 41203247 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:41203247C>T ENST00000263413.3 - 2 350 c.86G>A c.(85-87)tGg>tAg p.W29* C6_ENST00000337836.5_Nonsense_Mutation_p.W29* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 29 TSP type-1 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) CCACTGAGTCCATGCATAGTG 0.517000 63 77 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79617301 79617301 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:79617301A>T ENST00000296739.4 + 1 1512 c.1267A>T c.(1267-1269)Atg>Ttg p.M423L NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TAGGGGAAAAATGAGGTCAGC 0.373000 18 29 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763875 14763875 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:14763875G>A ENST00000358984.4 + 7 1191 c.1011G>A c.(1009-1011)agG>agA p.R337R ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.R337R NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 337 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AAACACCTAGGAAAATTTTGA 0.418000 4 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179650650 179650650 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179650650C>T ENST00000589042.1 - 14 2519 c.2295G>A c.(2293-2295)aaG>aaA p.K765K TTN_ENST00000460472.2_Silent_p.K719K|TTN_ENST00000360870.5_Silent_p.K765K|TTN_ENST00000359218.5_Silent_p.K719K|TTN_ENST00000342175.6_Silent_p.K719K|TTN_ENST00000591111.1_Silent_p.K765K|TTN_ENST00000342992.6_Silent_p.K765K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 765 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTACTCTAGGCTTGACTGCTT 0.478000 25 22 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10951344 10951344 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:10951344G>A ENST00000298232.7 - 9 681 c.314C>T c.(313-315)cCt>cTt p.P105L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P123L|TPTE_ENST00000342420.5_Missense_Mutation_p.P85L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 123 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATACTCCAAAGGAATATAAAG 0.323000 5 48 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423596 26423596 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:26423596G>A ENST00000335473.7 + 43 7906 c.7656G>A c.(7654-7656)agG>agA p.R2552R MYO18B_ENST00000407587.2_Silent_p.R2553R|MYO18B_ENST00000536101.1_Silent_p.R2552R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2552 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGACGGGGAGGAAAGACGACG 0.547000 8 6 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48801292 48801292 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:48801292C>T ENST00000315396.7 - 12 2038 c.1356G>A c.(1354-1356)ccG>ccA p.P452P NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 452 p.P245P(1)|p.P452P(1) cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CCATCTTCTTCGGAAGGTCCT 0.672000 17 12 0 0 1 0 0 RNF217 154214 broad.mit.edu 37 6 125284017 125284017 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:125284017G>A ENST00000521654.2 + 1 327 c.327G>A c.(325-327)gaG>gaA p.E109E RP11-510H23.1_ENST00000439075.1_RNA|RNF217_ENST00000560949.1_5'UTR Q8TC41 RN217_HUMAN ring finger protein 217 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) AGCTGGAGGAGGAAGAGGAGG 0.687000 6 19 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154473970 154473970 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:154473970G>A ENST00000304760.2 - 1 619 c.533C>T c.(532-534)tCc>tTc p.S178F NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 178 Ser-rich. breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) ggaggaaggggaagaggacgc 0.572000 27 23 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14754919 14754919 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:14754919C>T ENST00000253673.5 - 9 1151 c.e9+1 EMR3_ENST00000344373.4_Splice_Site|EMR3_ENST00000443157.2_Splice_Site|EMR3_ENST00000599900.1_Splice_Site NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 ATACATCATACCTGGCTGGTC 0.423000 8 19 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49855099 49855099 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:49855099C>T ENST00000376088.3 + 13 2712 c.2071C>T c.(2071-2073)Cca>Tca p.P691S CLCN5_ENST00000376091.3_Missense_Mutation_p.P691S|CLCN5_ENST00000376108.3_Missense_Mutation_p.P621S|CLCN5_ENST00000307367.2_Missense_Mutation_p.P621S NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 621 CBS 2. excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) CAGTGGCTTCCCAGTGGTGGT 0.463000 10 12 0 0 1 0 0 C2orf62 375307 broad.mit.edu 37 2 219232510 219232510 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:219232510C>T ENST00000289388.3 + 10 1016 c.987C>T c.(985-987)tcC>tcT p.S329S C2orf62_ENST00000481940.1_3'UTR|AC021016.6_ENST00000441749.1_RNA NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 329 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGCTCATCTCCGACTTCCTGC 0.706000 18 24 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121518183 121518183 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:121518183G>A ENST00000310864.6 - 8 840 c.626C>T c.(625-627)tCa>tTa p.S209L IQCB1_ENST00000349820.6_Intron NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 209 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) ATCTAAAATTGAATACAGGGC 0.323000 7 6 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115544060 115544060 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:115544060C>T ENST00000310836.6 + 2 546 c.24C>T c.(22-24)ttC>ttT p.F8F UGT8_ENST00000394511.3_Silent_p.F8F NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 8 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) CTCCATATTTCATTCTCCTGT 0.383000 18 16 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248715 20248715 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:20248715C>T ENST00000315957.4 + 1 315 c.234C>T c.(232-234)gcC>gcT p.A78A NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCATTACAGCCCCTAAAATGC 0.443000 82 100 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133475789 133475789 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:133475789C>T ENST00000402696.3 + 7 1291 c.806C>T c.(805-807)aCc>aTc p.T269I TF_ENST00000264998.3_Missense_Mutation_p.T142I NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 269 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CCTTCTCATACCGTCGTGGCC 0.587000 12 46 0 0 1 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524277 73524277 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:73524277A>G ENST00000339534.2 + 1 253 c.176A>G c.(175-177)aAc>aGc p.N59S NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 59 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 AATGCTAAGAACTGTGTCCTT 0.517000 10 32 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586524 169586524 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:169586524C>T ENST00000263686.6 - 3 260 c.223G>A c.(223-225)Gaa>Aaa p.E75K SELP_ENST00000367793.2_Missense_Mutation_p.E75K|SELP_ENST00000367792.2_Missense_Mutation_p.E75K|SELP_ENST00000367791.2_Missense_Mutation_p.E75K|SELP_ENST00000367786.2_Missense_Mutation_p.E75K|SELP_ENST00000367788.2_Missense_Mutation_p.E75K|SELP_ENST00000367794.2_Missense_Mutation_p.E75K|SELP_ENST00000458599.2_Missense_Mutation_p.E75K NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 75 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TAATCAATTTCATTTTTATTC 0.403000 51 72 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31656616 31656616 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:31656616G>A ENST00000375494.3 + 10 986 c.986G>A c.(985-987)gGg>gAg p.G329E NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 329 innate immune response cytoplasm|extracellular region lipid binding|protein binding CAGGCCCTGGGGAAGCTGCCC 0.582000 11 29 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39992502 39992502 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:39992502C>T ENST00000332312.3 - 3 483 c.e3-1 NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) TGTGCGGTACCTGGGCCAGGG 0.607000 37 22 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67937723 67937723 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:67937723G>A ENST00000252336.6 + 5 1099 c.727G>A c.(727-729)Gat>Aat p.D243N STARD8_ENST00000374597.3_Missense_Mutation_p.D243N|STARD8_ENST00000374599.3_Missense_Mutation_p.D323N NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 243 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 GTGTCCTGAGGATGGACACCG 0.647000 9 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9075252 9075252 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:9075252G>A ENST00000397910.4 - 3 12397 c.12194C>T c.(12193-12195)tCt>tTt p.S4065F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4067 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CGACCTCATAGACTGGGCAAG 0.483000 33 68 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065949 35065949 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:35065949G>A ENST00000382002.5 - 10 1537 c.1111C>T c.(1111-1113)Ccc>Tcc p.P371S PRLR_ENST00000511486.1_Missense_Mutation_p.P270S|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P270S|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 371 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AATGTGGAGGGATTGGCCTGG 0.527000 22 19 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135848596 135848596 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:135848596A>G ENST00000264158.8 + 4 222 c.179A>G c.(178-180)gAg>gGg p.E60G RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.E60G|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.E16G NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 60 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) ACATGGGAAGAGAAATCAGAT 0.333000 36 34 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31855576 31855576 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:31855576G>A ENST00000396184.3 - 16 1979 c.1775C>T c.(1774-1776)tCc>tTc p.S592F PDE1C_ENST00000396191.1_Missense_Mutation_p.S592F|PDE1C_ENST00000396193.1_Missense_Mutation_p.S652F|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.S592F|PDE1C_ENST00000396182.2_Missense_Mutation_p.S592F NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 592 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTCGGCTTTGGAGTTTTTCCC 0.453000 73 83 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6235746 6235746 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:6235746G>A ENST00000265978.4 - 11 2852 c.2494C>T c.(2494-2496)Cca>Tca p.P832S FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.P818S NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 818 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCAGTGCTGGGAAGTCCTCC 0.557000 28 34 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 137019667 137019667 + Missense_Mutation SNP G G A rs145735047 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:137019667G>A ENST00000359015.4 - 4 1126 c.766C>T c.(766-768)Cgt>Tgt p.R256C NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 256 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding p.R256C(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TGAATAAAACGATCCACAAGA 0.408000 14 17 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24621251 24621251 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:24621251C>T ENST00000327365.4 - 10 1881 c.1465G>A c.(1465-1467)Ggg>Agg p.G489R GGT5_ENST00000418439.2_Missense_Mutation_p.G413R|GGT5_ENST00000398292.3_Missense_Mutation_p.G490R|GGT5_ENST00000263112.7_Missense_Mutation_p.G457R NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 489 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity p.G489R(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCGCCAGCCCCGCCAATCACT 0.622000 46 51 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247268 164247268 + Missense_Mutation SNP C C A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:164247268C>A ENST00000296533.2 - 2 970 c.439G>T c.(439-441)Ggg>Tgg p.G147W NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 147 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGTCTCCACCCTCGAGGGTTG 0.423000 20 30 1.15919e-05 1.16456e-05 1 1 0 ACAD8 27034 broad.mit.edu 37 11 134131190 134131190 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:134131190C>T ENST00000281182.4 + 8 969 c.863C>T c.(862-864)gCc>gTc p.A288V ACAD8_ENST00000543332.1_Missense_Mutation_p.A190V|ACAD8_ENST00000537423.1_Missense_Mutation_p.A211V|ACAD8_ENST00000374752.4_Missense_Mutation_p.A161V|ACAD8_ENST00000524547.1_3'UTR NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 288 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CTGGGGGCTGCCCACGCCTCT 0.612000 15 32 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148037456 148037456 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:148037456G>A ENST00000370460.2 + 11 2360 c.1881G>A c.(1879-1881)ggG>ggA p.G627G AFF2_ENST00000370457.5_Silent_p.G594G|AFF2_ENST00000342251.3_Silent_p.G594G|AFF2_ENST00000286437.5_Silent_p.G268G NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 627 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GGACAATTGGGAAAAAACAGC 0.438000 58 74 0 0 1 0 0 TPK1 27010 broad.mit.edu 37 7 144245694 144245694 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:144245694C>T ENST00000549981.1 - 10 875 c.150_splice c.e10-1 p.G51_splice TPK1_ENST00000538212.2_Splice_Site_p.G114_splice|TPK1_ENST00000378099.3_Splice_Site_p.G119_splice|TPK1_ENST00000360057.3_Splice_Site_p.G168_splice|TPK1_ENST00000547966.1_5'UTR Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 168 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) CCTGTGCTTTCCCTGAAGGAG 0.493000 10 37 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52344306 52344306 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:52344306G>A ENST00000296585.5 + 5 644 c.502_splice c.e5+1 p.Q167_splice NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 167 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CTGCAACTCAGCGTAAGTTAT 0.468000 27 26 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90661173 90661173 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:90661173C>T ENST00000257749.4 - 7 1359 c.652G>A c.(652-654)Gag>Aag p.E218K RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.E218K|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.E218K NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 218 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TCTGAGCTCTCCTTGGTGTCT 0.537000 23 27 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657909 46657909 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:46657909C>T ENST00000253255.5 - 1 1310 c.1311G>A c.(1309-1311)aaG>aaA p.K437K NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 437 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCCTAGAGTCCTTCCGAATCA 0.478000 30 38 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50958778 50958778 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:50958778G>A ENST00000357701.5 + 20 2266 c.2215G>A c.(2215-2217)Gaa>Aaa p.E739K NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 739 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) ACCCACGAGTGAACCCCTGCA 0.572000 45 36 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43307400 43307400 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:43307400G>A ENST00000361428.2 - 10 4413 c.4336C>T c.(4336-4338)Cca>Tca p.P1446S ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1446 Pro-rich. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ggtgggggtggtggaggaggt 0.507000 19 13 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102805721 102805721 + Missense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:102805721T>A ENST00000264257.2 + 3 370 c.244T>A c.(244-246)Ttt>Att p.F82I IL1RL2_ENST00000539491.1_Missense_Mutation_p.F82I|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 82 Ig-like C2-type 1. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TTGGATTTTGTTTCTCCCCAT 0.373000 9 19 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179701873 179701873 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179701873G>A ENST00000420890.2 - 23 4190 c.4073C>T c.(4072-4074)aCc>aTc p.T1358I CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.T783I NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 783 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCTATCTTGGGTTTTAGTGAA 0.498000 19 14 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82969277 82969277 + Nonsense_Mutation SNP A A C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:82969277A>C ENST00000274341.4 - 2 916 c.66T>G c.(64-66)taT>taG p.Y22* HAPLN1_ENST00000514416.1_Nonsense_Mutation_p.Y22* NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 22 cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GATCCAGAGTATAGTTGTCTG 0.393000 29 33 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185175889 185175889 + Missense_Mutation SNP C C T rs145355483 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:185175889C>T ENST00000367500.4 + 13 2131 c.1966C>T c.(1966-1968)Cgt>Tgt p.R656C SWT1_ENST00000367501.3_Missense_Mutation_p.R656C NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 656 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 CAAAAATCTCCGTAAAGGTAT 0.303000 13 20 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76657030 76657030 + Splice_Site SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:76657030C>T ENST00000369963.3 - 14 4471 c.e14+1 IMPG1_ENST00000369950.3_Splice_Site Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GATTCTTTTACCTGGTTCAAT 0.418000 6 10 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100569567 100569567 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:100569567G>A ENST00000471714.1 - 16 1493 c.1384C>T c.(1384-1386)Cgt>Tgt p.R462C ABI3BP_ENST00000495063.1_Missense_Mutation_p.R462C|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R413C Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 424 Pro-rich. extracellular space p.R413C(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TCCAGAATACGATCACTTGTT 0.343000 10 13 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152366 133152366 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:133152366C>T ENST00000388996.4 - 11 1945 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K KCNQ3_ENST00000521134.1_Missense_Mutation_p.E389K|KCNQ3_ENST00000519445.1_Missense_Mutation_p.E509K NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 509 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ATCATGTCTTCGATGGGGAAG 0.627000 27 46 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099988 50099988 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:50099988C>T ENST00000418929.2 + 4 2408 c.2396C>T c.(2395-2397)cCc>cTc p.P799L NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 490 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCGCCTCCCCCCCAGCTGCTC 0.721000 8 11 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49129485 49129485 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:49129485G>A ENST00000443164.1 + 1 1268 c.563G>A c.(562-564)gGg>gAg p.G188E SPHK2_ENST00000599029.1_Missense_Mutation_p.G90E|SPHK2_ENST00000601712.1_Missense_Mutation_p.G90E|SPHK2_ENST00000599748.1_Missense_Mutation_p.G90E|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000598088.1_Missense_Mutation_p.G126E|SPHK2_ENST00000600537.1_Missense_Mutation_p.G67E|SPHK2_ENST00000245222.4_Missense_Mutation_p.G126E|SPHK2_ENST00000340932.3_Missense_Mutation_p.G90E Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 126 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) ggccggcgcggggcccggcgc 0.706000 14 6 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122625192 122625192 + Silent SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:122625192T>C ENST00000263461.6 + 7 1176 c.930T>C c.(928-930)ggT>ggC p.G310G NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 310 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 ATGAAAATGGTTGTATAACTT 0.279000 11 0 0 0 1 0 0 UGT2A2 574537 broad.mit.edu 37 4 70505031 70505031 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:70505031G>A ENST00000457664.2 - 1 327 c.328C>T c.(328-330)Cct>Tct p.P110S UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P311S NM_001105677.2 NP_001099147.2 ATTGTGAGAGGAGTTGGTCTA 0.358000 22 16 0 0 1 0 0 MKRN2 23609 broad.mit.edu 37 3 12623639 12623639 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:12623639G>A ENST00000170447.7 + 8 1275 c.1138G>A c.(1138-1140)Gat>Aat p.D380N MKRN2_ENST00000448482.1_Missense_Mutation_p.D378N|MKRN2_ENST00000411987.1_Missense_Mutation_p.D337N NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 380 intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 GCGGCTCTGGGATTTCATCGA 0.498000 115 91 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825098 4825098 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:4825098G>A ENST00000380382.1 - 1 749 c.750C>T c.(748-750)ttC>ttT p.F250F OR52R1_ENST00000356069.2_Silent_p.F171F|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGTTGGCAGAAGGGCATCC 0.547000 10 21 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79750313 79750313 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:79750313G>A ENST00000305428.3 + 2 1899 c.1824G>A c.(1822-1824)cgG>cgA p.R608R NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 608 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 AAATTGAACGGAAGCTGGAAT 0.512000 31 26 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728902 15728902 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:15728902C>T ENST00000441682.2 + 0 354 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 CCCATCACTCCCATCATCAAC 0.587000 50 57 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806472 54806472 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:54806472G>A ENST00000306858.7 + 5 2819 c.2703G>A c.(2701-2703)gaG>gaA p.E901E NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 901 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ATTCAAGGGAGATTAATGCAG 0.468000 10 15 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11732302 11732302 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:11732302C>T ENST00000304623.8 - 2 309 c.120G>A c.(118-120)ggG>ggA p.G40G CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.G40G NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 40 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CAGAGCCATCCCCGTTGGAGG 0.507000 23 26 0 0 1 0 0 ACAD8 27034 broad.mit.edu 37 11 134126487 134126487 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:134126487C>T ENST00000281182.4 + 2 261 c.155C>T c.(154-156)gCc>gTc p.A52V ACAD8_ENST00000543332.1_Missense_Mutation_p.P11S|ACAD8_ENST00000537423.1_Intron|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000524547.1_Intron NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 52 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) CAAAAAGTGGCCTTTGACTTT 0.468000 9 9 0 0 1 0 0 PCGF5 84333 broad.mit.edu 37 10 93000322 93000322 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:93000322C>T ENST00000336126.5 + 3 426 c.194C>T c.(193-195)cCa>cTa p.P65L PCGF5_ENST00000543648.1_Missense_Mutation_p.P65L NM_001257101.1|NM_032373.4 NP_001244030.1|NP_115749.2 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6) 12 GAGACAAATCCATTAGAAATG 0.313000 8 19 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52551603 52551603 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:52551603G>A ENST00000262094.5 + 4 800 c.279G>A c.(277-279)atG>atA p.M93I RAB27B_ENST00000586594.1_Intron NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 93 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) GAGACGCCATGGGCTTCTTAT 0.448000 22 24 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57731656 57731656 + Missense_Mutation SNP C C T rs144501542 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:57731656C>T ENST00000281282.5 + 2 1537 c.1459C>T c.(1459-1461)Ctt>Ttt p.L487F NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 487 Head. myosin complex|tight junction motor activity p.L487F(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TGCGCCCTCCCTTGGTGCACA 0.547000 26 15 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185161233 185161233 + Splice_Site SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:185161233G>T ENST00000265026.3 + 4 994 c.659_splice c.e4-1 p.K220_splice MAP3K13_ENST00000424227.1_Splice_Site_p.K220_splice|MAP3K13_ENST00000443863.1_Splice_Site_p.K76_splice|MAP3K13_ENST00000535426.1_Splice_Site_p.K76_splice|MAP3K13_ENST00000446828.1_Splice_Site_p.R13_splice NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 220 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TTCTTGGAAGGGGTGTTTGTA 0.363000 5 26 0.0215528 0.0215727 1 1 0 C8orf34 116328 broad.mit.edu 37 8 69351755 69351755 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:69351755A>G ENST00000337103.4 + 1 1608 c.16A>G c.(16-18)Act>Gct p.T6A C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.T117A|C8orf34_ENST00000348340.2_Missense_Mutation_p.T31A|C8orf34_ENST00000523686.1_Missense_Mutation_p.T31A|C8orf34_ENST00000539993.1_Missense_Mutation_p.T31A Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 31 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAAGTTAATAACTGAGACACC 0.383000 30 17 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71349823 71349823 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:71349823G>A ENST00000545866.1 - 1 1935 c.1568C>T c.(1567-1569)tCa>tTa p.S523L NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.S523L Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 523 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) GTAGAATGGTGAATTGGTGCC 0.562000 21 24 0 0 1 0 0 MRPL23 6150 broad.mit.edu 37 11 1977616 1977616 + Missense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:1977616G>T ENST00000397298.3 + 5 513 c.428G>T c.(427-429)cGg>cTg p.R143L MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.R143L NM_021134.3 NP_066957.3 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 143 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) AGCGACCCGCGGCGGGGCGGC 0.716000 12 11 1.08611e-07 1.0952e-07 1 1 0 FOXK2 3607 broad.mit.edu 37 17 80521332 80521332 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:80521332C>T ENST00000335255.5 + 2 696 c.522C>T c.(520-522)gcC>gcT p.A174A NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 174 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CAGTGAAGGCCGTACAGCCAC 0.587000 12 27 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16026301 16026301 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:16026301C>T ENST00000350896.3 - 4 493 c.296G>A c.(295-297)gGa>gAa p.G99E MSR1_ENST00000262101.5_Missense_Mutation_p.G99E|MSR1_ENST00000445506.2_Missense_Mutation_p.G117E|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.G99E|MSR1_ENST00000381998.4_Missense_Mutation_p.G99E NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 99 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ATTTCCTTTTCCCGTGAGACT 0.358000 48 39 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153284189 153284189 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:153284189G>A ENST00000369980.3 - 5 757 c.590C>T c.(589-591)cCg>cTg p.P197L IRAK1_ENST00000429936.2_Missense_Mutation_p.P223L|IRAK1_ENST00000393687.2_Missense_Mutation_p.P197L|IRAK1_ENST00000393682.1_Missense_Mutation_p.P223L|IRAK1_ENST00000369974.2_Missense_Mutation_p.P197L NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 197 ProST region. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGCAAAACGGAAAGGGGCG 0.642000 31 28 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11995136 11995136 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:11995136C>T ENST00000333796.3 - 1 1450 c.1134G>A c.(1132-1134)tgG>tgA p.W378* FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 378 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TGTGTCTTTCCCATTCACTCT 0.512000 6 64 0 0 1 0 0 CLRN2 645104 broad.mit.edu 37 4 17517087 17517087 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:17517087C>T ENST00000511148.2 + 1 300 c.198C>T c.(196-198)ttC>ttT p.F66F NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 66 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 ACGGGCTCTTCCGAGGGTGTA 0.517000 25 23 0 0 1 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254886 30254886 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:30254886A>G ENST00000361644.2 + 5 1582 c.845A>G c.(844-846)gAa>gGa p.E282G MAGEB3_ENST00000378986.1_Missense_Mutation_p.E282G NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 282 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 GCCCATGCTGAAACCAGCAAG 0.488000 9 52 0 0 1 0 0 FAM155B 27112 broad.mit.edu 37 X 68749603 68749603 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:68749603C>T ENST00000252338.4 + 3 1265 c.1223C>T c.(1222-1224)cCa>cTa p.P408L NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 409 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 caTGATCCCCCAGGCCGTGTC 0.612000 21 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615354 179615354 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179615354C>T ENST00000360870.5 - 46 11995 c.11773G>A c.(11773-11775)Gaa>Aaa p.E3925K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9745 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTTTTCTTCCTTCTGTTCG 0.338000 18 16 0 0 1 0 0 HSF2BP 11077 broad.mit.edu 37 21 45076493 45076493 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:45076493G>A ENST00000291560.2 - 3 493 c.162C>T c.(160-162)ttC>ttT p.F54F HSF2BP_ENST00000542962.1_Intron NM_007031.1 NP_008962.1 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding protein 54 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding kidney(2)|large_intestine(3)|prostate(1)|skin(1) 7 STAD - Stomach adenocarcinoma(101;0.18) TTAATTTCTGGAAGCTCTCCA 0.388000 7 43 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149419603 149419603 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:149419603G>A ENST00000255992.10 + 6 956 c.557G>A c.(556-558)aGg>aAg p.R186K KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Missense_Mutation_p.R186K|KRBA1_ENST00000319551.8_Missense_Mutation_p.R186K NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 186 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCAGCAGGAGGAAGAGCCAC 0.622000 9 11 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16535919 16535919 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:16535919G>A ENST00000602009.1 - 3 1200 c.305C>T c.(304-306)cCc>cTc p.P102L EPS15L1_ENST00000455140.2_Missense_Mutation_p.P256L|EPS15L1_ENST00000594975.1_Missense_Mutation_p.P256L|EPS15L1_ENST00000535753.2_Missense_Mutation_p.P256L|EPS15L1_ENST00000597937.1_Missense_Mutation_p.P256L|EPS15L1_ENST00000248070.6_Missense_Mutation_p.P256L Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 256 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GCTGTGCTTGGGGGACAGGCT 0.632000 22 37 0 0 1 0 0 RSPH1 89765 broad.mit.edu 37 21 43897468 43897468 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:43897468C>T ENST00000291536.3 - 7 827 c.660G>A c.(658-660)tgG>tgA p.W220* RSPH1_ENST00000398352.3_Nonsense_Mutation_p.W182* NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 220 meiosis cytosol|nucleus large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 GAGTTGGTGTCCACAGGGCCA 0.532000 17 30 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77436740 77436740 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:77436740G>A ENST00000308488.6 - 5 885 c.583C>T c.(583-585)Cga>Tga p.R195* RSF1_ENST00000360355.2_Nonsense_Mutation_p.R164* Q96T23 RSF1_HUMAN remodeling and spacing factor 1 195 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) AACTCGTTTCGATTTCTAAAC 0.338000 6 8 0 0 1 0 0 SULT4A1 25830 broad.mit.edu 37 22 44258218 44258218 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:44258218G>A ENST00000330884.4 - 1 165 c.45C>T c.(43-45)ttC>ttT p.F15F SULT4A1_ENST00000540422.1_Silent_p.F15F|SULT4A1_ENST00000249130.5_Silent_p.F15F NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 15 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) ACTTGCTCTCGAACTCCCCCG 0.736000 48 41 0 0 1 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309550 1309550 + Nonsense_Mutation SNP C C A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:1309550C>A ENST00000338370.3 - 2 728 c.328G>T c.(328-330)Gaa>Taa p.E110* AURKAIP1_ENST00000321751.5_Nonsense_Mutation_p.E110*|AURKAIP1_ENST00000378853.3_Nonsense_Mutation_p.E110*|AURKAIP1_ENST00000338338.5_Nonsense_Mutation_p.E110* Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 110 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TCGGCCCCTTCCCCTATCTGG 0.627000 83 35 9.54843e-35 9.75541e-35 1 1 0 COL9A1 1297 broad.mit.edu 37 6 71003913 71003913 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:71003913G>A ENST00000357250.6 - 5 811 c.653C>T c.(652-654)gCt>gTt p.A218V COL9A1_ENST00000370496.3_Missense_Mutation_p.A218V NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 218 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCCCAGCACAGCAAAGCCATC 0.398000 17 32 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63235895 63235895 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:63235895G>A ENST00000540857.1 - 4 520 c.388C>T c.(388-390)Cga>Tga p.R130* HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.R140*|HRASLS5_ENST00000301790.4_Nonsense_Mutation_p.R140* NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 140 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TAGCCAATTCGAAAAATCTCA 0.418000 16 20 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47835926 47835926 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:47835926G>A ENST00000371764.4 + 1 43 c.34G>A c.(34-36)Gaa>Aaa p.E12K DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 12 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGGAGGCTGCGAAAAGTTAAG 0.607000 4 15 0 0 1 0 0 ATP5B 506 broad.mit.edu 37 12 57037238 57037238 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:57037238G>A ENST00000262030.3 - 5 791 c.741C>T c.(739-741)taC>taT p.Y247Y ATP5B_ENST00000552919.1_Silent_p.Y247Y NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 247 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCATTTCATGGTATAAATCAT 0.428000 40 35 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173628523 173628523 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:173628523G>A ENST00000333279.2 - 2 95 c.35C>T c.(34-36)tCa>tTa p.S12L NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 28 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 GAAAAATTCTGAACTCTCTGA 0.393000 12 16 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3299467 3299467 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:3299467C>T ENST00000219596.1 - 3 1263 c.1224G>A c.(1222-1224)cgG>cgA p.R408R MEFV_ENST00000536379.1_Silent_p.R197R|MEFV_ENST00000541159.1_Silent_p.R197R|MEFV_ENST00000339854.4_Silent_p.R228R NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 408 R -> Q (in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TGGGGCGCACCCGGTGGCCTT 0.602000 25 44 0 0 1 0 0 UBE2A 7319 broad.mit.edu 37 X 118708942 118708942 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:118708942C>T ENST00000371558.2 + 2 297 c.123C>T c.(121-123)ttC>ttT p.F41F UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Silent_p.F41F NM_003336.2|NM_181762.1 NP_003327.2|NP_861427.1 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A 41 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 CGGTCATTTTCGGGTGAGTCT 0.662000 Rad6 pathway 37 40 0 0 1 0 0 NCF4 4689 broad.mit.edu 37 22 37273838 37273838 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:37273838C>T ENST00000248899.6 + 10 1177 c.993C>T c.(991-993)aaC>aaT p.N331N NCF4_ENST00000397147.4_3'UTR NM_000631.4 NP_000622.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 331 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 AGAAGGACAACTACAGGGTCT 0.597000 5 20 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72164554 72164554 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:72164554C>T ENST00000537465.1 - 11 1688 c.1530G>A c.(1528-1530)agG>agA p.R510R PMFBP1_ENST00000355636.6_Silent_p.R360R|PMFBP1_ENST00000237353.10_Silent_p.R505R Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 510 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TCTGCAGTTTCCTCTGGGTGT 0.567000 30 29 0 0 1 0 0 TMEM100 55273 broad.mit.edu 37 17 53798372 53798372 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:53798372C>T ENST00000575734.1 - 4 868 c.60G>A c.(58-60)acG>acA p.T20T TMEM100_ENST00000424486.2_Silent_p.T20T NM_001099640.1 NP_001093110.1 Q9NV29 TM100_HUMAN transmembrane protein 100 20 integral to membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 11 TCTTCTCCATCGTCGCTGCCA 0.522000 27 64 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108010917 108010917 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:108010917G>A ENST00000280758.5 + 8 2581 c.2053G>A c.(2053-2055)Gag>Aag p.E685K RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.E222K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E685K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E685K NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 685 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GCATGGCGAGGAGAACTACTC 0.607000 38 9 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37622085 37622085 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:37622085T>C ENST00000434837.2 - 6 2125 c.947A>G c.(946-948)aAc>aGc p.N316S MDGA1_ENST00000505425.1_Missense_Mutation_p.N316S|MDGA1_ENST00000297153.7_Missense_Mutation_p.N316S NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 316 Ig-like 3. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CTTGGCAGGGTTGCCCACATT 0.612000 OREG0017405 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 10 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41450653 41450653 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:41450653C>T ENST00000400454.1 - 26 5149 c.4672G>A c.(4672-4674)Gag>Aag p.E1558K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1558 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCCTGCTTCTCCGCGCAGCCC 0.587000 12 12 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31294300 31294300 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:31294300G>A ENST00000265071.2 + 3 725 c.460G>A c.(460-462)Gac>Aac p.D154N CDH6_ENST00000514738.1_Missense_Mutation_p.D99N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 154 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGACATCAATGACAATGAACC 0.468000 73 73 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238772 3238772 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:3238772G>A ENST00000217939.6 - 5 5108 c.4954C>T c.(4954-4956)Cct>Tct p.P1652S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1652 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCCCAGAAGGATATGTAGTT 0.453000 90 100 0 0 1 0 0 GPR34 2857 broad.mit.edu 37 X 41555494 41555494 + Missense_Mutation SNP T T G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:41555494T>G ENST00000378142.4 + 3 892 c.608T>G c.(607-609)aTg>aGg p.M203R CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.M203R|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron NM_001097579.1|NM_005300.3 NP_001091048.1|NP_005291.1 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 203 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 14 AATTCCACAATGTGTTTCCAT 0.333000 13 32 0 0 1 0 0 FHL5 9457 broad.mit.edu 37 6 97051540 97051540 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:97051540G>A ENST00000326771.2 + 3 431 c.51G>A c.(49-51)ggG>ggA p.G17G FHL5_ENST00000541107.1_Silent_p.G17G NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 17 nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CACTTCTTGGGAAGAAATATG 0.343000 7 14 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143056102 143056102 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:143056102A>T ENST00000409408.1 - 4 1908 c.200T>A c.(199-201)aTg>aAg p.M67K FAM131B_ENST00000409346.1_Missense_Mutation_p.M67K|FAM131B_ENST00000443739.2_Missense_Mutation_p.M95K|FAM131B_ENST00000409222.3_Missense_Mutation_p.M67K|FAM131B_ENST00000409578.1_Missense_Mutation_p.M83K Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 67 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) ATGGTCCTTCATGCTCCGTGA 0.582000 17 10 0 0 1 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337432 22337432 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:22337432G>A ENST00000390436.2 + 0 246 AAATGTGGGCGAAAAGAAAGA 0.428000 61 9 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1817424 1817424 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:1817424C>T ENST00000302787.2 - 13 2333 c.2037G>A c.(2035-2037)aaG>aaA p.K679K NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 679 EF-hand. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CCTTGCCATCCTTGTTTTCAT 0.607000 5 47 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095812 167095812 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:167095812G>A ENST00000361200.2 + 6 1610 c.1444G>A c.(1444-1446)Gag>Aag p.E482K DUSP27_ENST00000443333.1_Missense_Mutation_p.E482K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.E482K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 482 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGCATGGAACGAGAGGCTGCT 0.647000 12 19 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17266548 17266548 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:17266548G>A ENST00000375541.5 + 13 1837 c.1768G>A c.(1768-1770)Gag>Aag p.E590K CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 590 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CGCCCAGCGCGAGGTGCAGCG 0.677000 8 20 0 0 1 0 0 CBFA2T3 863 broad.mit.edu 37 16 88968044 88968044 + Nonsense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:88968044T>A ENST00000268679.4 - 2 568 c.172A>T c.(172-174)Aag>Tag p.K58* CBFA2T3_ENST00000327483.5_5'UTR|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Nonsense_Mutation_p.K58*|CBFA2T3_ENST00000360302.2_5'UTR NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 58 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GCTGAGGCCTTAGCTTTCCTG 0.682000 T RUNX1 AML 26 18 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13839596 13839596 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:13839596C>T ENST00000265104.4 - 35 5855 c.5751G>A c.(5749-5751)ctG>ctA p.L1917L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1917 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGCACTGTTTCAGCCACTCAA 0.373000 Kartagener syndrome 12 22 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049492 9049492 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:9049492G>A ENST00000397910.4 - 5 32342 c.32139C>T c.(32137-32139)gcC>gcT p.A10713A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10715 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGGACTGGTGGCTATTGAAG 0.488000 74 92 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84502744 84502744 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:84502744G>A ENST00000395226.2 + 4 456 c.238G>A c.(238-240)Gaa>Aaa p.E80K AGPAT9_ENST00000264409.4_Missense_Mutation_p.E80K NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 80 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GTCACCCATGGAAAAAGGGCT 0.423000 29 40 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847920 123847920 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:123847920C>T ENST00000531945.1 - 1 568 c.479G>A c.(478-480)gGa>gAa p.G160E NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCAGGTGATTCCAGCCATTTC 0.557000 10 8 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50227709 50227709 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:50227709C>T ENST00000332853.3 - 8 972 c.949G>A c.(949-951)Gag>Aag p.E317K NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 317 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGCTTGTTCTCCTCGAAGAGG 0.512000 24 7 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150773146 150773146 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:150773146G>A ENST00000370357.4 + 3 302 c.57G>A c.(55-57)agG>agA p.R19R NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 19 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GCTCTCAAAGGAAATTAAACT 0.333000 9 10 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3127320 3127320 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:3127320G>A ENST00000355072.5 + 11 1511 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 456 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) GGATGACTCTGAATCGAGATC 0.453000 26 16 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91850744 91850744 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:91850744G>A ENST00000370425.3 - 6 900 c.802_splice c.e6+1 p.P268_splice HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 268 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TAAAGGATACGAATTTCTGTG 0.249000 6 29 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950720 198950720 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:198950720C>T ENST00000428675.1 + 2 2877 c.2479C>T c.(2479-2481)Ccc>Tcc p.P827S PLCL1_ENST00000437704.2_Missense_Mutation_p.P729S NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 827 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TCGGCATGTTCCCCTGCGTTC 0.453000 25 26 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2706446 2706446 + Silent SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:2706446T>C ENST00000399655.1 + 21 3109 c.2844T>C c.(2842-2844)atT>atC p.I948I CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000344100.3_Silent_p.I948I|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000335762.5_Silent_p.I973I|CACNA1C_ENST00000399595.1_Silent_p.I948I|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399621.1_Silent_p.I948I|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399634.1_Silent_p.I948I|CACNA1C_ENST00000399606.1_Silent_p.I948I|CACNA1C_ENST00000399597.1_Silent_p.I948I|CACNA1C_ENST00000399638.1_Silent_p.I948I|CACNA1C_ENST00000399617.1_Silent_p.I948I|CACNA1C_ENST00000399603.1_Silent_p.I948I|CACNA1C_ENST00000347598.4_Silent_p.I948I|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000402845.3_Silent_p.I948I|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399649.1_Silent_p.I948I|CACNA1C_ENST00000406454.3_Silent_p.I948I|CACNA1C_ENST00000399644.1_Intron NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 948 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCATTGAAATTGCTCTGAAGG 0.483000 64 79 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56086983 56086983 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:56086983C>T ENST00000257880.7 - 21 3005 c.2786G>A c.(2785-2787)gGc>gAc p.G929D ITGA7_ENST00000555728.1_Missense_Mutation_p.G929D|ITGA7_ENST00000553804.1_Missense_Mutation_p.G889D|ITGA7_ENST00000257879.6_Missense_Mutation_p.G885D|ITGA7_ENST00000347027.6_Missense_Mutation_p.G879D|ITGA7_ENST00000394230.2_Missense_Mutation_p.G889D|ITGA7_ENST00000394229.2_Missense_Mutation_p.G885D|ITGA7_ENST00000452168.2_Missense_Mutation_p.G792D Q13683 ITA7_HUMAN integrin, alpha 7 929 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CCCCTGCCCGCCCTCCAGCTC 0.597000 42 52 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182359477 182359477 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:182359477C>T ENST00000397033.2 + 12 1707 c.1277C>T c.(1276-1278)tCg>tTg p.S426L NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 426 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATCAGCAAATCGTTAAGTATG 0.308000 33 41 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657556 143657556 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:143657556C>T ENST00000392899.1 + 1 530 c.493C>T c.(493-495)Cag>Tag p.Q165* NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TATCACCTTTCAGCTGCCCAT 0.522000 27 40 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1816055 1816055 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:1816055C>T ENST00000250894.4 + 21 2695 c.2538C>T c.(2536-2538)atC>atT p.I846I MAPK8IP3_ENST00000356010.5_Silent_p.I840I NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 846 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TGGCCGGTATCACCCTGGTGG 0.692000 23 28 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113346531 113346531 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:113346531C>T ENST00000452357.2 + 2 561 c.371C>T c.(370-372)cCa>cTa p.P124L OAS1_ENST00000445409.2_Missense_Mutation_p.P124L|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Missense_Mutation_p.P124L|OAS1_ENST00000202917.5_Missense_Mutation_p.P124L|OAS1_ENST00000551241.1_Missense_Mutation_p.P124L NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 124 Necessary for binding to dsRNA. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GTCCAGGCTCCACGCTGGGGC 0.577000 32 4 0 0 1 0 0 CCNDBP1 23582 broad.mit.edu 37 15 43477730 43477730 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:43477730C>T ENST00000300213.4 + 1 276 c.34C>T c.(34-36)Ccc>Tcc p.P12S EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_5'UTR NM_012142.4 NP_036274.3 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 12 Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1. cell cycle cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 13 all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.42e-07) AGCCGCAGTCCCCACCCTGGC 0.677000 4 3 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23703324 23703324 + Missense_Mutation SNP G G A rs139320105 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:23703324G>A ENST00000256797.4 - 19 2648 c.2480C>T c.(2479-2481)cCc>cTc p.P827L ERN2_ENST00000457008.2_Missense_Mutation_p.P727L NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 779 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCAAAAGAAGGGGTGGGCCAG 0.592000 144 141 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34118052 34118052 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:34118052C>T ENST00000373381.4 - 28 4633 c.4457G>A c.(4456-4458)gGg>gAg p.G1486E CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G359E NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1446 CUB 9. 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) CAGGTCTCCCCCGCAGGGAGC 0.557000 41 11 0 0 1 0 0 IST1 9798 broad.mit.edu 37 16 71957234 71957234 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:71957234C>T ENST00000378799.6 + 8 1159 c.803C>T c.(802-804)cCc>cTc p.P268L RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.P268L|IST1_ENST00000544564.1_Missense_Mutation_p.P268L|IST1_ENST00000329908.8_Missense_Mutation_p.P268L|IST1_ENST00000606369.1_Missense_Mutation_p.P120L|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000535424.1_Missense_Mutation_p.P281L|IST1_ENST00000538850.1_Missense_Mutation_p.P120L|IST1_ENST00000378798.5_Intron NM_001270975.1 NP_001257904.1 P53990 IST1_HUMAN increased sodium tolerance 1 homolog (yeast) 266 Interaction with VPS37B.|Interaction with VTA1. cell cycle|cell division cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment protein binding CAGGCCTTTCCCAATATTCAT 0.468000 18 31 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119201 3119201 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:3119201G>A ENST00000304094.1 + 1 287 c.287G>A c.(286-288)gGa>gAa p.G96E NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TCTTTTGGGGGATGCCTAACG 0.493000 16 45 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22987402 22987402 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:22987402G>A ENST00000509305.1 + 3 625 c.279G>A c.(277-279)atG>atA p.M93I C1QB_ENST00000314933.6_Missense_Mutation_p.M95I P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 95 Collagen-like 2. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGGCCCCATGGGCCCTAAAG 0.622000 17 62 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43895734 43895734 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:43895734C>T ENST00000562955.1 + 29 4190 c.4190C>T c.(4189-4191)cCc>cTc p.P1397L SZT2_ENST00000372442.1_Missense_Mutation_p.P555L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1454 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCTTCCAATCCCCACTACTTC 0.542000 44 35 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94120377 94120377 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:94120377G>A ENST00000369303.4 - 3 858 c.674C>T c.(673-675)tCc>tTc p.S225F EPHA7_ENST00000369297.1_Missense_Mutation_p.S225F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 225 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GACTAAAGAGGAAAATTCTGA 0.463000 11 7 0 0 1 0 0 GIPC3 126326 broad.mit.edu 37 19 3589508 3589508 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:3589508G>A ENST00000322315.5 + 4 705 c.660G>A c.(658-660)gaG>gaA p.E220E NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 220 breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGGAGGGAGACCCTGCGGC 0.612000 26 30 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77406717 77406717 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:77406717G>A ENST00000560626.2 - 7 5497 c.5022C>T c.(5020-5022)ctC>ctT p.L1674L PEAK1_ENST00000312493.4_Silent_p.L1674L Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1674 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding AAGTCTGGAAGAGATCTTCGC 0.557000 21 54 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34018860 34018860 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr21:34018860G>A ENST00000382499.2 - 24 3206 c.3207C>T c.(3205-3207)ctC>ctT p.L1069L SYNJ1_ENST00000382491.3_Silent_p.L1025L|SYNJ1_ENST00000322229.7_Silent_p.L1030L|SYNJ1_ENST00000357345.3_Silent_p.L1030L|SYNJ1_ENST00000433931.2_Silent_p.L1069L NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1030 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AAGATGGCTGGAGATGCTGAG 0.493000 32 20 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51266974 51266974 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:51266974C>T ENST00000266037.9 + 19 1874 c.1851C>T c.(1849-1851)gcC>gcT p.A617A NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 617 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGTGGAAAGCCTTCCCCGACC 0.448000 5 20 0 0 1 0 0 NOP14 8602 broad.mit.edu 37 4 2943384 2943384 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:2943384G>A ENST00000416614.2 - 15 2189 c.2124C>T c.(2122-2124)ttC>ttT p.F708F NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000314262.6_Silent_p.F708F|NOP14_ENST00000502735.1_Silent_p.F708F|NOP14_ENST00000398071.4_Silent_p.F708F P78316 NOP14_HUMAN NOP14 nucleolar protein 708 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) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 TGATGGCGTGGAAGGATGGCA 0.667000 7 22 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2321222 2321222 + Missense_Mutation SNP G G A rs149044769 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:2321222G>A ENST00000381458.5 + 13 2140 c.2077G>A c.(2077-2079)Gaa>Aaa p.E693K NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 693 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CGATGTAGCCGAATGAAGGGC 0.592000 29 42 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17637499 17637499 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:17637499G>A ENST00000262077.2 - 16 2348 c.2349C>T c.(2347-2349)acC>acT p.T783T NUP153_ENST00000537253.1_Silent_p.T814T NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 783 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CAAATCCTAAGGTACCAGTGG 0.438000 13 81 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25565092 25565092 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:25565092G>A ENST00000269141.3 - 13 2504 c.2081C>T c.(2080-2082)tCc>tTc p.S694F CDH2_ENST00000399380.3_Missense_Mutation_p.S663F NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 694 Cadherin 5. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ACGCAGGATGGAAATATTTGA 0.463000 10 16 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5226977 5226977 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:5226977G>A ENST00000334314.3 - 1 167 c.91C>T c.(91-93)Cat>Tat p.H31Y AKR1CL1_ENST00000445191.1_Missense_Mutation_p.H27Y aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CCACTTACATGATCAGGAGCA 0.517000 13 0 0 0 1 0 0 PROM2 150696 broad.mit.edu 37 2 95947008 95947008 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:95947008C>T ENST00000317620.9 + 12 1579 c.1446C>T c.(1444-1446)ttC>ttT p.F482F PROM2_ENST00000403131.2_Silent_p.F482F|PROM2_ENST00000317668.4_Silent_p.F482F|PROM2_ENST00000542147.1_Silent_p.F482F NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 482 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 GCCTCAGCTTCCTCTTTGCTG 0.647000 48 39 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143098521 143098521 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:143098521G>A ENST00000275815.3 - 3 414 c.328C>T c.(328-330)Cct>Tct p.P110S NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 110 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GCTCCCCCAGGGAAACTCTTG 0.617000 137 108 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117632270 117632270 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:117632270G>A ENST00000368508.3 - 39 6344 c.6146C>T c.(6145-6147)cCt>cTt p.P2049L ROS1_ENST00000368507.3_Missense_Mutation_p.P2043L NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2049 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGTGAGTAAAGGACCATAAAA 0.333000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 8 10 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80419517 80419517 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:80419517G>A ENST00000265080.4 + 16 2594 c.2527G>A c.(2527-2529)Gac>Aac p.D843N NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 843 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCCTGCAGCGGACACCACAGA 0.527000 22 18 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62045702 62045702 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:62045702G>A ENST00000435607.1 - 6 793 c.717C>T c.(715-717)atC>atT p.I239I SCN4A_ENST00000578147.1_Silent_p.I239I NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 239 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGGCCCCCACGATCGTCTTCA 0.602000 29 40 0 0 1 0 0 UGT1A6 54578 broad.mit.edu 37 2 234601756 234601756 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:234601756G>A ENST00000305139.6 + 1 245 c.106G>A c.(106-108)Gga>Aga p.G36R UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CCCTCAGGACGGAAGCCACTG 0.483000 34 31 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924532 70924532 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:70924532C>T ENST00000603540.1 + 2 574 c.316C>T c.(316-318)Cca>Tca p.P106S ADAM21_ENST00000267499.3_Missense_Mutation_p.P106S|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 106 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCTCTTCATCCCAGATGACTG 0.478000 28 26 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889180 147889180 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:147889180G>A ENST00000360693.3 - 6 1053 c.915C>T c.(913-915)tcC>tcT p.S305S HTR4_ENST00000314512.6_Silent_p.S305S|HTR4_ENST00000517929.1_Silent_p.S305S|HTR4_ENST00000520514.1_Silent_p.S305S|HTR4_ENST00000521735.1_Silent_p.S305S|HTR4_ENST00000362016.2_Silent_p.S319S|HTR4_ENST00000377888.3_Silent_p.S305S|HTR4_ENST00000521530.1_Silent_p.S305S|HTR4_ENST00000354217.2_Silent_p.S305S NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 305 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GGTTCAACCCGGAATTGATAT 0.488000 16 0 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39162078 39162078 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:39162078G>A ENST00000359534.3 - 4 839 c.501C>T c.(499-501)atC>atT p.I167I NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 167 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CGCCCCACACGATGAAGATGA 0.557000 16 59 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2111297 2111297 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:2111297G>A ENST00000355272.6 - 26 3178 c.2972C>T c.(2971-2973)tCc>tTc p.S991F AP3D1_ENST00000350812.6_Missense_Mutation_p.S760F|AP3D1_ENST00000356926.4_Missense_Mutation_p.S888F|AP3D1_ENST00000345016.5_Missense_Mutation_p.S929F NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 929 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTTAACATAGGAATTTTCAGC 0.612000 14 29 0 0 1 0 0 CERS3 204219 broad.mit.edu 37 15 101024834 101024834 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:101024834C>T ENST00000284382.4 - 6 751 c.328G>A c.(328-330)Gag>Aag p.E110K CERS3_ENST00000394113.1_Missense_Mutation_p.E110K|CERS3_ENST00000538112.2_Missense_Mutation_p.E110K|CERS3_ENST00000560944.1_Intron NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 110 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity p.E110*(1) ACCTGGCGCTCCGTCAAGTTA 0.483000 11 8 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98633937 98633937 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:98633937C>T ENST00000295268.3 - 10 1322 c.1233G>A c.(1231-1233)agG>agA p.R411R STPG2_ENST00000506482.1_5'UTR NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 GGCAAGATTTCCTTAAAACAG 0.338000 16 13 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25419986 25419986 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:25419986C>T ENST00000549301.1 + 0 721 SNHG14_ENST00000441592.2_RNA tccctgacttccctcaacaCT 0.517000 44 43 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149806890 149806890 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:149806890G>A ENST00000435030.1 + 10 1250 c.882G>A c.(880-882)ggG>ggA p.G294G KIF5C_ENST00000397413.1_Silent_p.G62G|KIF5C_ENST00000414838.2_Silent_p.G199G|KIF5C_ENST00000464066.1_3'UTR O60282 KIF5C_HUMAN kinesin family member 5C 294 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CTTTGGGTGGGAACTGCAGAA 0.473000 22 20 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62611258 62611258 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:62611258G>A ENST00000281156.4 - 5 780 c.502C>T c.(502-504)Cgt>Tgt p.R168C NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TGTTCCTGACGAATTTCATCA 0.403000 9 13 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43770786 43770786 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:43770786G>A ENST00000372476.3 + 2 402 c.323G>A c.(322-324)gGt>gAt p.G108D TIE1_ENST00000538015.1_Missense_Mutation_p.G108D|TIE1_ENST00000441333.2_Missense_Mutation_p.G108D NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 108 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCGTGGGCGGTGCTGGGGCG 0.711000 26 12 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919788 12919788 + Silent SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:12919788T>C ENST00000240189.2 + 3 615 c.528T>C c.(526-528)ggT>ggC p.G176G NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 176 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAAGGAGAGGTTTAGTACACC 0.408000 37 169 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97984035 97984035 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:97984035C>T ENST00000383696.2 + 1 948 c.907C>T c.(907-909)Ccc>Tcc p.P303S RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTTATTAAATCCCATGATCTA 0.383000 15 14 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81242078 81242078 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:81242078C>T ENST00000552864.1 - 3 427 c.225G>A c.(223-225)acG>acA p.T75T NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 75 L27. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 TAACAGTTATCGTTTCATGCA 0.323000 12 6 0 0 1 0 0 MDFIC 29969 broad.mit.edu 37 7 114619811 114619811 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:114619811C>T ENST00000257724.3 + 4 1058 c.795C>T c.(793-795)tcC>tcT p.S265S MDFIC_ENST00000393486.1_Silent_p.S156S Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 156 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 CTGTCTTTTCCCAAAAGACAG 0.338000 21 21 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 24 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 418967 418967 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:418967G>A ENST00000332826.6 - 21 2041 c.1957C>T c.(1957-1959)Cac>Tac p.H653Y NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 653 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 GACAGGCTGTGGTTGACGTAG 0.622000 34 42 0 0 1 0 0 RPE65 6121 broad.mit.edu 37 1 68897194 68897194 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:68897194G>A ENST00000262340.5 - 11 1256 c.1203C>T c.(1201-1203)atC>atT p.I401I NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 401 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 GCTCCAGCCAGATAGTCTCGT 0.458000 22 8 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16021677 16021677 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:16021677C>T ENST00000350896.3 - 5 911 c.714G>A c.(712-714)caG>caA p.Q238Q MSR1_ENST00000262101.5_Silent_p.Q238Q|MSR1_ENST00000445506.2_Silent_p.Q256Q|MSR1_ENST00000536385.1_Silent_p.Q12Q|MSR1_ENST00000355282.2_Silent_p.Q238Q|MSR1_ENST00000381998.4_Silent_p.Q238Q NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 238 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTTTTATTTCCTGTTCCAAAT 0.338000 4 19 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201507384 201507384 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:201507384C>T ENST00000374700.2 + 25 2948 c.2707C>T c.(2707-2709)Ctc>Ttc p.L903F AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 903 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTTTCCCAATCTCCGCTGCCG 0.468000 20 16 0 0 1 0 0 C7orf62 219557 broad.mit.edu 37 7 88424217 88424217 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:88424217G>A ENST00000297203.2 - 2 225 c.40C>T c.(40-42)Cct>Tct p.P14S ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 14 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 AGTGGCAAAGGCCTTTTGCTG 0.398000 51 39 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638936 55638936 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:55638936C>T ENST00000370830.3 - 4 1636 c.938G>A c.(937-939)cGa>cAa p.R313Q BMP5_ENST00000446683.2_Missense_Mutation_p.R313Q NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 313 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TCTCACGGATCGAAGAAGTAC 0.453000 21 20 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123332192 123332192 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:123332192C>T ENST00000275162.4 + 3 1787 c.452C>T c.(451-453)cCt>cTt p.P151L CLVS2_ENST00000368438.1_Missense_Mutation_p.P5L NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 151 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ATTGAAGATCCTGAGCTTCAA 0.403000 19 30 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423512 26423512 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:26423512C>T ENST00000335473.7 + 43 7822 c.7572C>T c.(7570-7572)atC>atT p.I2524I MYO18B_ENST00000407587.2_Silent_p.I2525I|MYO18B_ENST00000536101.1_Silent_p.I2524I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2524 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTGACAGCATCAAAAGTCGAC 0.597000 13 20 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124283832 124283832 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:124283832G>A ENST00000409039.3 + 13 1874 c.1849G>A c.(1849-1851)Gag>Aag p.E617K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 617 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GACAATGAAGGAGTATGAAGA 0.443000 14 4 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471445 146471445 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:146471445C>T ENST00000361727.3 + 2 696 c.180C>T c.(178-180)ccC>ccT p.P60P NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 60 F5/8 type C. 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) GCTATTCTCCCGGCTATGCCA 0.383000 HNSCC(39;0.1) 28 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179495665 179495665 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:179495665C>T ENST00000589042.1 - 238 44244 c.44020G>A c.(44020-44022)Gaa>Aaa p.E14674K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5609K|TTN_ENST00000359218.5_Missense_Mutation_p.E5734K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5801K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13033K|TTN_ENST00000342992.6_Missense_Mutation_p.E12106K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13033 Ig-like 96. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTTAATTTCCCGATCTAGA 0.478000 12 27 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51165484 51165484 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:51165484G>A ENST00000293441.1 - 23 6242 c.6224C>T c.(6223-6225)tCc>tTc p.S2075F SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.S1462F|SHANK1_ENST00000391814.1_Missense_Mutation_p.S2083F|SHANK1_ENST00000359082.3_Missense_Mutation_p.S2066F NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2075 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CGGTGAGAGGGAGCGCGAGGC 0.687000 26 7 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807472 143807472 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:143807472G>A ENST00000408979.2 + 1 866 c.797G>A c.(796-798)cGa>cAa p.R266Q NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R266Q(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TCTAATCAACGAGAGGAGCAG 0.512000 105 101 0 0 1 0 0 AQP1 358 broad.mit.edu 37 7 30963131 30963131 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:30963131C>T ENST00000311813.4 + 4 752 c.697C>T c.(697-699)Cca>Tca p.P233S AQP1_ENST00000409899.1_Missense_Mutation_p.P118S|AQP1_ENST00000434909.2_Missense_Mutation_p.P293S|AQP1_ENST00000441328.2_Missense_Mutation_p.P150S|AQP1_ENST00000409611.1_Missense_Mutation_p.P182S|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.P410S NM_198098.2 NP_932766.1 aquaporin 1 kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) CATCCTGGCCCCACGCAGCAG 0.592000 22 26 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900742 151900742 + Missense_Mutation SNP C C A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:151900742C>A ENST00000393900.3 - 3 412 c.59G>T c.(58-60)gGa>gTa p.G20V MAGEA12_ENST00000393869.3_Missense_Mutation_p.G20V|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.G20V NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 20 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CAGGGCCTCTCCTTGGGCCTC 0.622000 34 42 1.08052e-11 1.09671e-11 1 1 0 C15orf43 145645 broad.mit.edu 37 15 45250611 45250611 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:45250611G>A ENST00000340827.3 + 3 204 c.187G>A c.(187-189)Gtt>Att p.V63I NM_152448.2 NP_689661.1 Q8NHR7 CO043_HUMAN chromosome 15 open reading frame 43 63 NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2) 8 all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192) all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06) TAATGCTACAGTTTTTCATGC 0.363000 28 14 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80329277 80329277 + Silent SNP C C T rs145465808 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:80329277C>T ENST00000358842.3 - 1 95 c.78G>A c.(76-78)ctG>ctA p.L26L NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 26 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 AATTGAAAACCAGAAAGCGAG 0.507000 15 28 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869915 4869915 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:4869915G>A ENST00000322101.2 - 1 599 c.524C>T c.(523-525)cCc>cTc p.P175L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGGCAGTAGGGCATGTAGGC 0.542000 36 35 0 0 1 0 0 UBR3 130507 broad.mit.edu 37 2 170857905 170857905 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:170857905C>T ENST00000272793.5 + 27 4060 c.4010C>T c.(4009-4011)tCt>tTt p.S1337F UBR3_ENST00000418381.1_Missense_Mutation_p.S1337F|UBR3_ENST00000392631.1_Missense_Mutation_p.S158F Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1337 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TGTCATAAATCTTACATGGAA 0.328000 13 51 0 0 1 0 0 NDRG1 10397 broad.mit.edu 37 8 134256628 134256628 + Silent SNP C C T rs150101908 by1000genomes TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:134256628C>T ENST00000414097.2 - 14 1728 c.861G>A c.(859-861)gcG>gcA p.A287A NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000537882.1_Silent_p.A206A|NDRG1_ENST00000354944.5_Silent_p.A217A|NDRG1_ENST00000522476.1_Silent_p.A221A|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Silent_p.A287A|NDRG1_ENST00000518176.1_Silent_p.A34A NM_001135242.1 NP_001128714.1 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 287 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CGCCACAGTCCGCCATCTAGG 0.577000 T ERG prostate 22 19 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561520 9561520 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:9561520C>T ENST00000378429.3 - 5 808 c.262G>A c.(262-264)Gat>Aat p.D88N PAK7_ENST00000353224.5_Missense_Mutation_p.D88N|PAK7_ENST00000378423.1_Missense_Mutation_p.D88N NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 88 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TTGTCAAAATCCTCTAGCAGG 0.493000 53 65 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10431281 10431281 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:10431281C>T ENST00000377086.1 + 45 5109 c.4907C>T c.(4906-4908)cCc>cTc p.P1636L KIF1B_ENST00000377081.1_Missense_Mutation_p.P1636L|KIF1B_ENST00000263934.6_Missense_Mutation_p.P1590L O60333 KIF1B_HUMAN kinesin family member 1B 1636 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TCCACCTGTCCCTCTCTGGTA 0.488000 14 28 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36730754 36730754 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:36730754C>T ENST00000244751.2 - 12 1419 c.795G>A c.(793-795)ggG>ggA p.G265G NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 265 C2 2. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TGGTGAACTCCCCAATGAAGT 0.582000 12 103 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52200305 52200305 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:52200305G>A ENST00000354534.5 + 27 5213 c.5035G>A c.(5035-5037)Gag>Aag p.E1679K SCN8A_ENST00000545061.1_Missense_Mutation_p.E1638K NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1679 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TGTGAAGCACGAGGCTGGTAT 0.478000 37 40 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108270127 108270127 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:108270127G>A ENST00000295746.8 - 21 2663 c.2587C>T c.(2587-2589)Cgt>Tgt p.R863C KIAA1524_ENST00000491772.1_Missense_Mutation_p.R704C NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 863 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCTTCCAAACGACCTTCTAAT 0.408000 7 21 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56779338 56779338 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:56779338G>A ENST00000413728.2 - 7 1326 c.783C>T c.(781-783)ttC>ttT p.F261F ARHGEF3_ENST00000497267.1_Silent_p.F226F|ARHGEF3_ENST00000495373.1_Silent_p.F255F|ARHGEF3_ENST00000338458.4_Silent_p.F287F|ARHGEF3_ENST00000496106.1_Silent_p.F261F|ARHGEF3_ENST00000296315.3_Silent_p.F255F NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 255 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GAATATCGAGGAAATTCCAGA 0.468000 71 48 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161138347 161138347 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:161138347G>A ENST00000367999.4 + 6 863 c.597G>A c.(595-597)ctG>ctA p.L199L PPOX_ENST00000352210.5_Silent_p.L199L|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 199 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCATATTACTGGGCCTGCTGC 0.537000 22 26 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561666 32561666 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:32561666C>T ENST00000345122.3 + 2 2106 c.1791C>T c.(1789-1791)aaC>aaT p.N597N ARHGAP5_ENST00000539826.2_Silent_p.N597N|ARHGAP5_ENST00000432921.1_Silent_p.N597N|ARHGAP5_ENST00000556611.1_Silent_p.N597N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 597 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATAAAGTTAACCTTTTTATTT 0.368000 16 3 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36122381 36122381 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:36122381C>T ENST00000249044.2 + 3 266 c.266C>T c.(265-267)tCc>tTc p.S89F NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 89 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 GACAAAGATTCCATGCCAGAT 0.393000 11 27 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1081530 1081530 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:1081530G>A ENST00000441003.2 + 12 1575 c.1548G>A c.(1546-1548)ctG>ctA p.L516L MUC2_ENST00000359061.5_Silent_p.L516L NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 516 VWFD 2. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|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;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TTGTGACACTGGACCAGGCCT 0.642000 8 10 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31661282 31661282 + Silent SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:31661282T>C ENST00000295770.2 + 9 1496 c.1287T>C c.(1285-1287)ctT>ctC p.L429L STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 429 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 CAGCAGGCCTTTGGTTCTGCA 0.343000 6 23 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126882873 126882873 + Missense_Mutation SNP G G A rs143468706 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:126882873G>A ENST00000339582.2 - 2 1194 c.386C>T c.(385-387)tCg>tTg p.S129L GRM8_ENST00000444921.2_Missense_Mutation_p.S129L|GRM8_ENST00000405249.1_Missense_Mutation_p.S129L|GRM8_ENST00000358373.3_Missense_Mutation_p.S129L O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 129 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.S129L(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTTCACATCCGAAGCATCTTT 0.502000 HNSCC(24;0.065) 47 29 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158299203 158299203 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:158299203C>T ENST00000368168.3 - 4 950 c.843G>A c.(841-843)gtG>gtA p.V281V NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 281 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) TGCTGTGCTTCACCCGACAGG 0.557000 29 34 0 0 1 0 0 C17orf80 55028 broad.mit.edu 37 17 71232516 71232516 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:71232516G>A ENST00000359042.2 + 3 1089 c.895G>A c.(895-897)Gga>Aga p.G299R C17orf80_ENST00000582793.1_Intron|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.G299R|C17orf80_ENST00000535032.2_Missense_Mutation_p.G299R|C17orf80_ENST00000255557.4_Missense_Mutation_p.G299R|C17orf80_ENST00000426147.2_Missense_Mutation_p.G299R|C17orf80_ENST00000577615.1_Missense_Mutation_p.G299R NM_017941.4 NP_060411.2 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 299 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) ACAAGAGAAAGGACTTACCCT 0.433000 9 13 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48239033 48239033 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:48239033G>A ENST00000309562.2 + 1 690 c.672G>A c.(670-672)agG>agA p.R224R NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TCAACTTGAGGAACCATTCTG 0.473000 6 11 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50776748 50776748 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:50776748G>A ENST00000216923.4 - 5 1026 c.677C>T c.(676-678)tCg>tTg p.S226L ZFP64_ENST00000371518.2_Missense_Mutation_p.S226L|ZFP64_ENST00000361387.2_Missense_Mutation_p.S226L|ZFP64_ENST00000371515.4_Missense_Mutation_p.S224L|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Missense_Mutation_p.S172L NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CCGCTCGTCCGAGTGGATCCT 0.627000 62 75 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151474795 151474795 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:151474795G>A ENST00000356517.3 + 5 728 c.619G>A c.(619-621)Gaa>Aaa p.E207K RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 207 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GAATGATGCTGAAATAAAACA 0.318000 18 11 0 0 1 0 0 GBP2 2634 broad.mit.edu 37 1 89579925 89579925 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:89579925G>A ENST00000370466.3 - 7 1191 c.923C>T c.(922-924)cCc>cTc p.P308L GBP2_ENST00000463660.1_5'UTR NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 308 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) CTCCATGCAGGGTAGATCCCC 0.512000 14 39 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56352921 56352921 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:56352921G>A ENST00000340482.3 - 7 1619 c.1443C>T c.(1441-1443)atC>atT p.I481I MPO_ENST00000225275.3_Silent_p.I449I P05164 PERM_HUMAN myeloperoxidase 449 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) TGGCCCCCACGATCTTCCGGG 0.602000 9 25 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099959 50099959 + Missense_Mutation SNP C C G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:50099959C>G ENST00000418929.2 + 4 2379 c.2367C>G c.(2365-2367)gaC>gaG p.D789E NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 481 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGGGCCCTGACCTCCCACTGG 0.711000 14 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060392 9060392 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:9060392C>T ENST00000397910.4 - 3 27257 c.27054G>A c.(27052-27054)aaG>aaA p.K9018K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9020 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGTGCTTGGCTTTGTGGCTG 0.527000 24 35 0 0 1 0 0 LIPM 340654 broad.mit.edu 37 10 90572917 90572917 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:90572917A>G ENST00000539337.1 + 4 464 c.209A>G c.(208-210)aAc>aGc p.N70S LIPM_ENST00000404743.4_Missense_Mutation_p.N110S Q5VYY2 LIPM_HUMAN lipase, family member M 110 lipid catabolic process extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1) 7 TGGATTTCCAACCTGCCCAAC 0.493000 11 1 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127239494 127239494 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:127239494C>T ENST00000265825.5 + 5 1399 c.1180C>T c.(1180-1182)Cgt>Tgt p.R394C FSCN3_ENST00000420086.2_Missense_Mutation_p.R260C NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 394 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ATTGCGAGGTCGTTATGGCTA 0.507000 37 59 0 0 1 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119529 17119529 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:17119529C>T ENST00000426585.1 + 0 341 ACCTAATTTTCACTGACAGCA 0.333000 23 15 0 0 1 0 0 PAK4 10298 broad.mit.edu 37 19 39660384 39660384 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:39660384C>T ENST00000599386.1 + 3 372 c.191C>T c.(190-192)cCc>cTc p.P64L PAK4_ENST00000599470.1_Missense_Mutation_p.P64L|PAK4_ENST00000435673.2_Missense_Mutation_p.P64L|PAK4_ENST00000321944.4_Missense_Mutation_p.P64L|PAK4_ENST00000358301.3_Missense_Mutation_p.P64L|PAK4_ENST00000593690.1_Missense_Mutation_p.P64L|PAK4_ENST00000360442.3_Missense_Mutation_p.P64L NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 64 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) TCCATCCAGCCCGGGGCCCCC 0.711000 16 18 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7887695 7887695 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:7887695C>T ENST00000377532.3 + 17 2930 c.2706C>T c.(2704-2706)ccC>ccT p.P902P PER3_ENST00000361923.2_Silent_p.P894P P56645 PER3_HUMAN period circadian clock 3 894 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TGGACCCACCCCCTTCAGTCA 0.547000 66 22 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1457568 1457568 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:1457568C>T ENST00000345913.4 + 6 676 c.585C>T c.(583-585)ttC>ttT p.F195F TPO_ENST00000382198.1_Silent_p.F195F|TPO_ENST00000382201.3_Silent_p.F195F|TPO_ENST00000346956.3_Silent_p.F195F|TPO_ENST00000337415.3_Silent_p.F195F|TPO_ENST00000329066.4_Silent_p.F195F|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.F195F NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 195 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACCCCGGCTTCTTGTACAACG 0.602000 20 15 0 0 1 0 0 CCNF 899 broad.mit.edu 37 16 2483003 2483003 + Missense_Mutation SNP T T G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:2483003T>G ENST00000397066.4 + 3 301 c.213T>G c.(211-213)agT>agG p.S71R NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 71 F-box. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) ACCACGCCAGTGTGTGGGCAT 0.602000 4 10 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223940530 223940530 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:223940530C>T ENST00000295006.5 + 9 1316 c.1007C>T c.(1006-1008)tCc>tTc p.S336F CAPN2_ENST00000433674.2_Missense_Mutation_p.S258F NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 336 Calpain catalytic. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) AGGCACTATTCCCGCCTGGAG 0.507000 16 24 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44932917 44932917 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:44932917C>T ENST00000291187.4 - 6 2343 c.2021G>A c.(2020-2022)gGa>gAa p.G674E ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.G680E|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 680 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GGGCTTTTTTCCCGTGTGGAC 0.507000 20 52 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87693930 87693930 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:87693930G>A ENST00000436978.1 + 32 5663 c.e32-1 PTPN13_ENST00000511467.1_Splice_Site|PTPN13_ENST00000316707.6_Splice_Site|PTPN13_ENST00000411767.2_Splice_Site|PTPN13_ENST00000427191.2_Splice_Site NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TGTCTCTGTAGTAATCCTTCC 0.373000 14 60 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62261172 62261172 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:62261172C>T ENST00000416284.3 - 2 1619 c.35G>A c.(34-36)gGa>gAa p.G12E FAM19A2_ENST00000551619.1_Missense_Mutation_p.G12E|FAM19A2_ENST00000551449.1_Missense_Mutation_p.G12E NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 12 cytoplasm p.G12E(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TAGCAGTTTTCCTTTTGTTGC 0.294000 17 35 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52785399 52785399 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:52785399C>T ENST00000439461.1 + 2 97 c.54C>T c.(52-54)ttC>ttT p.F18F ZNF766_ENST00000359102.4_Silent_p.F33F|ZNF766_ENST00000593612.1_Silent_p.F33F|ZNF766_ENST00000600821.1_Silent_p.F13F|ZNF766_ENST00000599581.1_Silent_p.F18F NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) CCATAGAATTCTCTCAGGAGG 0.453000 41 109 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23703323 23703323 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:23703323G>A ENST00000256797.4 - 19 2649 c.2481C>T c.(2479-2481)ccC>ccT p.P827P ERN2_ENST00000457008.2_Silent_p.P727P NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 779 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TCCAAAAGAAGGGGTGGGCCA 0.597000 144 142 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149772279 149772279 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:149772279C>T ENST00000451292.1 + 23 3745 c.3637C>T c.(3637-3639)Ccc>Tcc p.P1213S TCOF1_ENST00000445265.2_Missense_Mutation_p.P1100S|TCOF1_ENST00000504761.2_Missense_Mutation_p.P1176S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P1139S|TCOF1_ENST00000377797.3_Missense_Mutation_p.P1177S|TCOF1_ENST00000513346.1_Missense_Mutation_p.P1176S|TCOF1_ENST00000323668.7_Missense_Mutation_p.P1099S Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1176 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGTCCCACCCCCTCCAGGAC 0.637000 15 4 0 0 1 0 0 OR1G1 8390 broad.mit.edu 37 17 3030711 3030711 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:3030711G>A ENST00000328890.2 - 1 164 c.135C>T c.(133-135)atC>atT p.I45I NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 TGACTAGAATGATGAGGAGGT 0.527000 27 44 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955199 30955199 + Missense_Mutation SNP G G A rs55803740 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:30955199G>A ENST00000376296.3 + 2 1488 c.1247G>A c.(1246-1248)gGg>gAg p.G416E MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 416 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GTGTCCAGTGGGGCCAGCACT 0.622000 30 222 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16748444 16748444 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:16748444G>A ENST00000335496.1 - 4 539 c.57C>T c.(55-57)ttC>ttT p.F19F SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Intron NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 19 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TGGATGGCAGGAAGGGGTTGA 0.577000 99 32 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430444 135430444 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:135430444A>G ENST00000394143.1 + 6 4870 c.4579A>G c.(4579-4581)Aaa>Gaa p.K1527E GPR112_ENST00000370652.1_Missense_Mutation_p.K1527E|GPR112_ENST00000412101.1_Missense_Mutation_p.K1322E|GPR112_ENST00000287534.4_Missense_Mutation_p.K1464E|GPR112_ENST00000394141.1_Missense_Mutation_p.K1322E NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1527 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CACCTCCAAAAAAGTTTCTGA 0.428000 37 40 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272265 52272265 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:52272265C>T ENST00000598776.1 + 2 1126 c.354C>T c.(352-354)ttC>ttT p.F118F FPR2_ENST00000340023.6_Silent_p.F118F|FPR2_ENST00000598953.1_Silent_p.F118F NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 118 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TGATTGGTTTCATTGCACTGG 0.507000 33 24 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32398181 32398181 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:32398181C>T ENST00000283365.9 + 9 1114 c.763C>T c.(763-765)Cgc>Tgc p.R255C DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000348997.5_Missense_Mutation_p.R255C|DTNA_ENST00000315456.6_Missense_Mutation_p.R255C|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399113.3_Missense_Mutation_p.R255C|DTNA_ENST00000269190.7_Missense_Mutation_p.R255C|DTNA_ENST00000554864.3_Missense_Mutation_p.R255C|DTNA_ENST00000598334.1_Missense_Mutation_p.R255C|DTNA_ENST00000597599.1_Missense_Mutation_p.R255C|DTNA_ENST00000444659.1_Missense_Mutation_p.R255C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598774.1_Missense_Mutation_p.R255C|DTNA_ENST00000595022.1_Missense_Mutation_p.R255C|DTNA_ENST00000399121.5_Missense_Mutation_p.R255C|DTNA_ENST00000598142.1_Missense_Mutation_p.R255C|DTNA_ENST00000269191.6_Missense_Mutation_p.R255C NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 255 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GATGGGATTTCGCTACCGATG 0.468000 26 17 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093396 30093396 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:30093396C>T ENST00000567636.1 + 0 1771 NR_003558.1 CTGGGCTTTTCCCACCAGCTC 0.502000 30 26 0 0 1 0 0 CTD-2192J16.20 0 broad.mit.edu 37 19 12691762 12691762 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:12691762G>A ENST00000593682.1 - 1 27 c.28C>T c.(28-30)Cct>Tct p.P10S ZNF490_ENST00000311437.6_Missense_Mutation_p.S376F CACTTCACAGGAACTAGATGA 0.403000 33 28 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12639595 12639595 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:12639595C>T ENST00000425538.1 + 6 733 c.533C>T c.(532-534)tCc>tTc p.S178F MYOCD_ENST00000395988.1_Missense_Mutation_p.S82F|MYOCD_ENST00000343344.4_Missense_Mutation_p.S178F NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 178 HDAC5-binding (By similarity). cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCAGCGGGATCCCCGCCAGAC 0.493000 33 68 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 167020663 167020663 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:167020663G>A ENST00000061240.2 + 20 3538 c.2891G>A c.(2890-2892)cGa>cAa p.R964Q TLL1_ENST00000507499.1_Missense_Mutation_p.R987Q NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 964 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R964P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GGGCTTGGTCGATTCTGTGGA 0.423000 45 60 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49323590 49323590 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:49323590G>A ENST00000351842.4 - 15 2008 c.2000C>T c.(1999-2001)tCc>tTc p.S667F USP4_ENST00000265560.4_Missense_Mutation_p.S714F NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 714 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TGTTCCATAGGAGTTCACAAG 0.458000 14 34 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113642835 113642835 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:113642835T>C ENST00000361127.4 + 10 1373 c.1175T>C c.(1174-1176)aTc>aCc p.I392T NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 392 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TATTTCAGAATCTTACAAGGA 0.303000 9 13 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761298 92761298 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:92761298C>T ENST00000318238.4 - 5 5203 c.3987G>A c.(3985-3987)agG>agA p.R1329R SAMD9L_ENST00000411955.1_Silent_p.R1329R|SAMD9L_ENST00000437805.1_Silent_p.R1329R NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1329 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTAGCTTTTTCCTGCAATTCT 0.388000 39 79 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156622586 156622586 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:156622586C>T ENST00000329117.4 + 8 2180 c.1844C>T c.(1843-1845)tCt>tTt p.S615F RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.S615F NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 615 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAAGATAATTCTGGAAGAACT 0.662000 23 13 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242264024 242264024 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:242264024A>T ENST00000442594.2 - 10 1533 c.1024T>A c.(1024-1026)Ttt>Att p.F342I PLD5_ENST00000427495.1_Missense_Mutation_p.F372I|PLD5_ENST00000536534.1_Missense_Mutation_p.F434I NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 434 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AACCTAGGAAAGGTGTGATTC 0.428000 24 42 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49129484 49129484 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:49129484G>A ENST00000443164.1 + 1 1267 c.562G>A c.(562-564)Ggg>Agg p.G188R SPHK2_ENST00000599029.1_Missense_Mutation_p.G90R|SPHK2_ENST00000601712.1_Missense_Mutation_p.G90R|SPHK2_ENST00000599748.1_Missense_Mutation_p.G90R|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000598088.1_Missense_Mutation_p.G126R|SPHK2_ENST00000600537.1_Missense_Mutation_p.G67R|SPHK2_ENST00000245222.4_Missense_Mutation_p.G126R|SPHK2_ENST00000340932.3_Missense_Mutation_p.G90R Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 126 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) gggccggcgcggggcccggcg 0.711000 14 6 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158224882 158224882 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:158224882G>A ENST00000289429.5 + 2 600 c.67G>A c.(67-69)Gag>Aag p.E23K NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 23 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) AGGGCTCAAGGAGCCTCTCTC 0.483000 23 36 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101587519 101587519 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:101587519C>T ENST00000335681.5 + 12 1408 c.1123C>T c.(1123-1125)Cac>Tac p.H375Y NPAS2_ENST00000542504.1_Missense_Mutation_p.H440Y NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 375 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.H375Y(1) cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CGAGGCCCTCCACTCCTCAGC 0.542000 20 50 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43382351 43382351 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:43382351C>T ENST00000244296.2 - 2 281 c.144G>A c.(142-144)ggG>ggA p.G48G PSG1_ENST00000595124.1_Silent_p.G48G|PSG1_ENST00000403380.3_Silent_p.G48G|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000436291.2_Silent_p.G48G|PSG1_ENST00000312439.6_Silent_p.G48G|PSG1_ENST00000595356.1_Silent_p.G48G NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GAACATCCTTCCCCTCGGAAA 0.478000 43 108 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128608 152128608 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:152128608C>T ENST00000316073.3 - 3 1031 c.967G>A c.(967-969)Gac>Aac p.D323N NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 323 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CCTTGTCTGTCCGTCTGACTG 0.498000 302 379 0 0 1 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471912 47471912 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:47471912G>A ENST00000266581.4 - 2 1340 c.874C>T c.(874-876)Cgt>Tgt p.R292C AMIGO2_ENST00000429635.1_Missense_Mutation_p.R292C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R292C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R292C NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 292 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) CCAAGCGCACGAAAGGAACCA 0.512000 40 5 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109383173 109383173 + Missense_Mutation SNP T T G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:109383173T>G ENST00000283195.6 + 20 6304 c.6178T>G c.(6178-6180)Tta>Gta p.L2060V NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2060 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTGGGGAACTTAAAAATTCT 0.383000 81 273 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206311 104206311 + Silent SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:104206311G>T ENST00000202556.9 - 12 2724 c.2442C>A c.(2440-2442)gcC>gcA p.A814A PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.A233A NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 814 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CTGCCGGCTCGGCAGTTTGGT 0.607000 22 2 1.28384e-07 1.29338e-07 1 1 0 SLCO1B7 338821 broad.mit.edu 37 12 21168658 21168658 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:21168658G>A ENST00000421593.2 + 1 29 c.29G>A c.(28-30)aGg>aAg p.R10K SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CAAATAGAAAGGAGATTTGAG 0.328000 2 2 0 0 1 0 0 RAB19 401409 broad.mit.edu 37 7 140111659 140111659 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:140111659C>T ENST00000275874.5 + 4 526 c.328C>T c.(328-330)Cct>Tct p.P110S RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) GACTCTCCTTCCTGTCCTTCT 0.527000 15 46 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066197 70066197 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:70066197C>T ENST00000446444.1 - 6 1559 c.1551G>A c.(1549-1551)tgG>tgA p.W517* RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 517 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TAGCAAACTTCCAGAAACAAA 0.403000 28 42 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115515061 115515061 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr10:115515061C>T ENST00000361048.1 + 2 352 c.25C>T c.(25-27)Cca>Tca p.P9S PLEKHS1_ENST00000369312.4_5'UTR NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 TCAGAAGAGTCCAGGTACCCG 0.458000 5 16 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863310 23863310 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:23863310C>T ENST00000405093.3 - 21 2722 c.2652G>A c.(2650-2652)caG>caA p.Q884Q MYH6_ENST00000356287.3_Silent_p.Q884Q NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 884 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CATTCTTCTCCTGCAGCAGGG 0.577000 21 1 0 0 1 0 0 C11orf88 399949 broad.mit.edu 37 11 111385573 111385573 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:111385573G>A ENST00000529167.1 + 1 64 c.64G>A c.(64-66)Gga>Aga p.G22R C11orf88_ENST00000332814.6_Missense_Mutation_p.G22R|C11orf88_ENST00000375618.4_Missense_Mutation_p.G22R|RP11-794P6.6_ENST00000530283.1_RNA Q6PI97 CK088_HUMAN chromosome 11 open reading frame 88 22 endometrium(1)|large_intestine(3)|lung(2) 6 GTGCCCCCCGGGATTACTGGT 0.567000 OREG0021329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 22 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13923946 13923946 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:13923946C>T ENST00000254323.2 + 6 1337 c.1148C>T c.(1147-1149)cCc>cTc p.P383L ZSWIM4_ENST00000440752.2_Missense_Mutation_p.P100L NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 383 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TTCGACGGCCCCAGCCTGCAG 0.612000 19 9 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681847 100681847 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:100681847G>A ENST00000306151.4 + 3 7214 c.7150G>A c.(7150-7152)Gat>Aat p.D2384N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2384 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTGCTGACGATACTAGCAT 0.498000 63 235 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922621 37922621 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:37922621C>T ENST00000346872.3 - 8 1013 c.952G>A c.(952-954)Gaa>Aaa p.E318K IKZF3_ENST00000350532.3_Missense_Mutation_p.E279K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E136K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E71K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E262K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E240K|IKZF3_ENST00000377945.3_Missense_Mutation_p.E184K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E284K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E223K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E245K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E175K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E97K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E231K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E279K NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 318 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CGCAGGGCTTCGGCGCCAAGA 0.532000 16 47 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72937553 72937553 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:72937553G>A ENST00000328801.4 + 2 139 c.139G>A c.(139-141)Gag>Aag p.E47K NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 47 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) CCCGGAGAAGGAGAACCGAGT 0.637000 13 10 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47331627 47331627 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:47331627G>A ENST00000398879.1 - 27 4220 c.3854C>T c.(3853-3855)cCa>cTa p.P1285L TNS3_ENST00000311160.9_Missense_Mutation_p.P1285L|TNS3_ENST00000355730.3_Missense_Mutation_p.P1045L Q68CZ2 TENS3_HUMAN tensin 3 1285 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TTCCTCCAATGGATCTGTAGG 0.468000 7 34 0 0 1 0 0 LRRC61 65999 broad.mit.edu 37 7 150034116 150034116 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:150034116G>A ENST00000359623.4 + 3 754 c.166G>A c.(166-168)Gag>Aag p.E56K LRRC61_ENST00000493307.1_Missense_Mutation_p.E56K|LRRC61_ENST00000323078.7_Missense_Mutation_p.E56K NM_001142928.1 NP_001136400.1 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 56 endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) CCTGGGCCTGGAGTGGCTGGA 0.647000 57 38 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92265383 92265383 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:92265383G>A ENST00000435962.2 - 6 910 c.587C>T c.(586-588)cCc>cTc p.P196L TC2N_ENST00000556018.1_Missense_Mutation_p.P196L|TC2N_ENST00000360594.5_Missense_Mutation_p.P196L|TC2N_ENST00000340892.5_Missense_Mutation_p.P196L NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 196 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) AGAACTACTGGGTACACTGGA 0.323000 6 12 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64138933 64138933 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:64138933C>T ENST00000295902.6 - 6 1297 c.712G>A c.(712-714)Gag>Aag p.E238K PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E294K NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 238 LIM zinc-binding 2. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GGTCTTCCCTCCTTCATGATG 0.512000 59 44 0 0 1 0 0 PDZK1 5174 broad.mit.edu 37 1 145762276 145762276 + Nonsense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:145762276A>T ENST00000344770.2 + 8 1526 c.1453A>T c.(1453-1455)Aaa>Taa p.K485* PDZK1_ENST00000465595.1_3'UTR|PDZK1_ENST00000417171.1_Nonsense_Mutation_p.K485*|PDZK1_ENST00000451928.2_Nonsense_Mutation_p.K374* NM_002614.4 NP_002605.2 Q5T2W1 NHRF3_HUMAN PDZ domain containing 1 485 carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport brush border membrane|cytoplasm PDZ domain binding|transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) TCCAGATTCTAAAGAAGGAAT 0.438000 24 21 0 0 1 0 0 CEACAM19 56971 broad.mit.edu 37 19 45179670 45179670 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:45179670G>A ENST00000358777.4 + 3 1032 c.552G>A c.(550-552)agG>agA p.R184R CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Silent_p.R184R NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 184 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) TGGTGACAAGGAACTGGAGGG 0.592000 14 46 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26536765 26536765 + Missense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:26536765G>T ENST00000333478.6 - 5 1124 c.542C>A c.(541-543)tCc>tAc p.S181Y GPR113_ENST00000311519.1_Missense_Mutation_p.S380Y|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.S311Y|GPR113_ENST00000541401.1_5'UTR NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 380 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCGTTGAAGGAGGAAGCTGA 0.567000 37 14 1.59932e-28 1.63245e-28 1 1 0 HSPG2 3339 broad.mit.edu 37 1 22207308 22207308 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:22207308G>A ENST00000374695.3 - 15 1918 c.1839C>T c.(1837-1839)tcC>tcT p.S613S NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 613 Laminin IV type A 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGTAACGCAGGGAGCCGCCAT 0.642000 6 1 0 0 1 0 0 MYLIP 29116 broad.mit.edu 37 6 16143273 16143273 + Silent SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:16143273T>C ENST00000356840.3 + 4 685 c.487T>C c.(487-489)Ttg>Ctg p.L163L MYLIP_ENST00000349606.4_5'UTR NM_013262.3 NP_037394.2 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 163 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) ACATAAGGAGTTGGAGGGGAC 0.438000 3 16 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62855832 62855832 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:62855832T>C ENST00000584306.1 - 11 4962 c.4432A>G c.(4432-4434)Acc>Gcc p.T1478A LRRC37A3_ENST00000319651.5_Missense_Mutation_p.T1478A|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.T455A|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.T596A|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.T516A NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1478 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 AGCTGCTGGGTTAGCTGAATT 0.517000 109 71 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25715926 25715926 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:25715926C>T ENST00000520164.1 - 14 1974 c.1437G>A c.(1435-1437)atG>atA p.M479I EBF2_ENST00000535548.1_Missense_Mutation_p.M210I|EBF2_ENST00000408929.3_Missense_Mutation_p.M331I NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 479 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TGTAGCCATTCATACTGTTGC 0.522000 9 26 0 0 1 0 0 SPAG11B 10407 broad.mit.edu 37 8 7308374 7308374 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:7308374C>T ENST00000398462.2 - 3 413 c.263G>A c.(262-264)gGg>gAg p.G88E SPAG11B_ENST00000297498.2_3'UTR|SPAG11B_ENST00000359758.5_Missense_Mutation_p.G88E|SPAG11B_ENST00000528168.1_3'UTR|SPAG11B_ENST00000458665.1_Missense_Mutation_p.G35E|SPAG11B_ENST00000361111.2_Intron NM_058201.2 NP_478108.2 Q08648 SG11B_HUMAN sperm associated antigen 11B 0 spermatogenesis extracellular region large_intestine(2)|lung(3)|urinary_tract(1) 6 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) TCTGCAGATCCCTTGCTGCAT 0.418000 29 35 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29867531 29867531 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:29867531G>A ENST00000399218.4 - 4 1084 c.1029C>T c.(1027-1029)gtC>gtT p.V343V RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Silent_p.V343V NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 TCACATCACGGACAGCCCGTG 0.562000 30 20 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32475374 32475374 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:32475374C>T ENST00000404025.2 - 5 2047 c.1559G>A c.(1558-1560)gGa>gAa p.G520E NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.G520E|NLRC4_ENST00000402280.1_Missense_Mutation_p.G520E Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 520 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GATGGAAAGTCCGAGAAGGCA 0.502000 22 13 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156816326 156816326 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:156816326G>A ENST00000368195.3 - 8 2191 c.1795C>T c.(1795-1797)Cga>Tga p.R599* NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 599 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity p.R599*(2) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGCAGCGTTCGGAGGTAGACG 0.577000 15 18 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107021 168107021 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:168107021G>A ENST00000409195.1 + 9 9208 c.9119G>A c.(9118-9120)gGa>gAa p.G3040E XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2818E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G3040E|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2865 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCCAAAACAGGAAAACCGGGA 0.318000 39 48 0 0 1 0 0 CEACAM19 56971 broad.mit.edu 37 19 45179669 45179669 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:45179669G>A ENST00000358777.4 + 3 1031 c.551G>A c.(550-552)aGg>aAg p.R184K CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.R184K NM_001127893.1|NM_020219.3 NP_001121365.1|NP_064604.2 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion molecule 19 184 integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) CTGGTGACAAGGAACTGGAGG 0.592000 14 45 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33134304 33134304 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:33134304G>A ENST00000341947.2 - 60 4605 c.4378C>T c.(4378-4380)Ccc>Tcc p.P1460S COL11A2_ENST00000374712.1_Missense_Mutation_p.P1379S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1434S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1400S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1353S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1374S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1413S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1439S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1460 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 AGGCCGGGGGGACCTCCAGGA 0.617000 52 12 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195491986 195491986 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:195491986C>T ENST00000463781.3 - 10 14265 c.13806G>A c.(13804-13806)tgG>tgA p.W4602* MUC4_ENST00000349607.4_Nonsense_Mutation_p.W315*|MUC4_ENST00000346145.4_Nonsense_Mutation_p.W366*|MUC4_ENST00000475231.1_Nonsense_Mutation_p.W4550* NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1359 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGCCGAGGCCCCAGCGACCTG 0.667000 12 11 0 0 1 0 0 ASB18 401036 broad.mit.edu 37 2 237150126 237150126 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:237150126T>C ENST00000330842.6 - 1 132 c.38A>G c.(37-39)cAa>cGa p.Q13R ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 0 intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) TTGAAATATTTGAAGTTTTCC 0.517000 3 5 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22729483 22729483 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:22729483C>T ENST00000511446.1 + 0 61 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGTACATATTCCGATGGAAAT 0.393000 32 47 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46832714 46832714 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:46832714C>T ENST00000339613.2 + 12 1778 c.1523C>T c.(1522-1524)cCc>cTc p.P508L HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Missense_Mutation_p.P513L|HIF3A_ENST00000377670.4_Missense_Mutation_p.P564L|HIF3A_ENST00000600383.1_Missense_Mutation_p.P495L|HIF3A_ENST00000244303.6_Missense_Mutation_p.P495L|HIF3A_ENST00000300862.3_Missense_Mutation_p.P562L|AC007193.10_ENST00000596807.1_RNA Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 564 ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GCATCCTCTCCCATGGCTGGG 0.662000 3 6 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52565324 52565324 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:52565324G>A ENST00000313234.5 - 9 1349 c.1252C>T c.(1252-1254)Ccc>Tcc p.P418S KRT80_ENST00000394815.2_Intron NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 0 Tail. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) GAACATAAGGGGTAGGGGAGG 0.562000 19 23 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11418775 11418775 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:11418775G>A ENST00000423059.3 - 26 4974 c.4723C>T c.(4723-4725)Cgg>Tgg p.R1575W AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1575 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TGTACAGCCCGACTGGTTTTC 0.512000 HNSCC(18;0.044) 17 25 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139767407 139767407 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:139767407C>T ENST00000303045.6 - 21 2470 c.2024G>A c.(2023-2025)gGa>gAa p.G675E COL22A1_ENST00000435777.1_Missense_Mutation_p.G675E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 675 Collagen-like 4.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TACCCGAGCTCCTGGAGGACC 0.557000 HNSCC(7;0.00092) 25 121 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101777034 101777034 + Splice_Site SNP T T G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:101777034T>G ENST00000251127.6 - 18 2200 c.e18-2 NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 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) CTTGCGAAGCTGAAAATGATA 0.333000 13 31 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483253 32483253 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:32483253G>A ENST00000359872.6 - 1 1060 c.299C>T c.(298-300)tCc>tTc p.S100F NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 100 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GGTGAGCCTGGAGAACCGGAA 0.587000 28 13 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109660610 109660610 + Missense_Mutation SNP A A T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:109660610A>T ENST00000338432.7 + 26 3804 c.3685A>T c.(3685-3687)Att>Ttt p.I1229F ACACB_ENST00000377848.3_Missense_Mutation_p.I1229F|ACACB_ENST00000377854.5_Missense_Mutation_p.I1159F O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1229 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GCAGATCCTGATTGCCTCCCA 0.647000 14 2 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896957 175896957 + Missense_Mutation SNP C C A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:175896957C>A ENST00000359240.3 + 5 951 c.281C>A c.(280-282)cCa>cAa p.P94Q ADAM29_ENST00000514159.1_Missense_Mutation_p.P94Q|ADAM29_ENST00000404450.4_Missense_Mutation_p.P94Q|ADAM29_ENST00000445694.1_Missense_Mutation_p.P94Q NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 94 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GAGGACCAGCCATTTGTCCAG 0.448000 18 27 5.01169e-05 5.03026e-05 1 1 0 C1orf141 400757 broad.mit.edu 37 1 67559156 67559156 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:67559156G>A ENST00000371007.2 - 8 844 c.735C>T c.(733-735)ttC>ttT p.F245F C1orf141_ENST00000371006.1_Silent_p.F245F|C1orf141_ENST00000544837.1_Silent_p.F245F NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 245 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 TTTCTAAAATGAAATTTGTTC 0.289000 6 22 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479988 142479988 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:142479988C>T ENST00000603901.1 + 0 120 NR_001296.3 ACCAGGTGTCCTTGAATTCTG 0.557000 80 53 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117297465 117297465 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:117297465C>T ENST00000369478.3 + 2 382 c.274C>T c.(274-276)Ctg>Ttg p.L92L CD2_ENST00000369477.1_Silent_p.L92L NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 92 Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) AAATGGAACTCTGAAAATTAA 0.289000 18 12 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29760103 29760103 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:29760103G>A ENST00000457107.1 + 0 83 GGTCGGGAGGGAAACGGCGTC 0.726000 4 16 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099989 50099989 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:50099989C>T ENST00000418929.2 + 4 2409 c.2397C>T c.(2395-2397)ccC>ccT p.P799P NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 490 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CGCCTCCCCCCCAGCTGCTCC 0.721000 8 11 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71360099 71360099 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:71360099A>G ENST00000373677.1 + 2 2865 c.1603A>G c.(1603-1605)Acc>Gcc p.T535A NHSL2_ENST00000540800.1_Missense_Mutation_p.T901A|NHSL2_ENST00000510661.1_Missense_Mutation_p.T670A|NHSL2_ENST00000535692.1_Missense_Mutation_p.T535A F5H593 F5H593_HUMAN NHS-like 2 901 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) AACTTCACCAACCTTGGCTAT 0.567000 17 36 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38753883 38753883 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:38753883G>A ENST00000449082.2 - 22 3857 c.3858C>T c.(3856-3858)ctC>ctT p.L1286L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1286 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAGGCAGACGAGGAGGACAT 0.552000 34 30 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27078748 27078748 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:27078748G>A ENST00000261191.7 - 6 1157 c.621C>T c.(619-621)atC>atT p.I207I ASUN_ENST00000539625.1_Silent_p.I106I NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 207 cell division|mitosis|regulation of mitotic cell cycle protein binding GGTAGGTGTGGATCAAGACCA 0.323000 18 8 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160664772 160664772 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:160664772G>A ENST00000366953.3 - 7 1369 c.1111C>T c.(1111-1113)Ctt>Ttt p.L371F SLC22A2_ENST00000491092.1_5'UTR NM_003058.3 NP_003049.2 O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 371 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TCACCTGCAAGGCCCATGTGC 0.532000 12 19 0 0 1 0 0 WDR13 64743 broad.mit.edu 37 X 48463292 48463292 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:48463292G>A ENST00000218056.5 + 9 1835 c.1330G>A c.(1330-1332)Gct>Act p.A444T NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 444 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GGCGGCCAAGGCTGCTGTCAA 0.632000 21 15 0 0 1 0 0 GDPD2 54857 broad.mit.edu 37 X 69649858 69649858 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:69649858G>A ENST00000453994.2 + 12 1613 c.1252G>A c.(1252-1254)Gag>Aag p.E418K GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.E339K|GDPD2_ENST00000538649.1_Missense_Mutation_p.E339K|GDPD2_ENST00000374382.3_Missense_Mutation_p.E418K NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 418 GDPD. E -> G (in Ref. 3; BAA91014). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) CAACAGAACGGAGAGGCCCCA 0.507000 22 24 0 0 1 0 0 LOC647323 647323 broad.mit.edu 37 3 193711760 193711760 + RNA SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:193711760G>A ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 GGTCGGCAAGGGAAGGGCTGG 0.433000 9 16 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323668 31323668 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:31323668C>T ENST00000269197.5 + 12 3856 c.3856C>T c.(3856-3858)Cag>Tag p.Q1286* NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1286 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AAAAACCATCCAGGGAACTGA 0.413000 8 30 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110465834 110465834 + Silent SNP C C T rs140214194 TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:110465834C>T ENST00000329608.6 + 6 982 c.591C>T c.(589-591)atC>atT p.I197I CSF1_ENST00000369802.3_Silent_p.I197I|CSF1_ENST00000344188.5_Silent_p.I197I|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Silent_p.I197I NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 197 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CCAAAGCCATCCCTAGCAGTG 0.587000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 38 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173257 207173257 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:207173257C>T ENST00000374423.3 + 5 4391 c.4005C>T c.(4003-4005)atC>atT p.I1335I NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1335 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTTCAAATATCCCTCTTCAGT 0.383000 16 18 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025448 16025448 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:16025448C>T ENST00000402119.3 - 10 1704 c.1278G>A c.(1276-1278)ggG>ggA p.G426G CYP4F11_ENST00000248041.7_Silent_p.G426G|CYP4F11_ENST00000326742.7_Intron NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 426 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTAATGGATCCCGATAATAT 0.572000 30 44 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140406746 140406746 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:140406746G>A ENST00000286349.3 + 3 1413 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 408 intracellular zinc ion binding p.E408K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CAGGCAGAAGGAAATTGAAAA 0.453000 9 26 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28986101 28986101 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:28986101C>T ENST00000359747.4 + 12 1727 c.1698C>T c.(1696-1698)atC>atT p.I566I RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.I566I|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 566 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AAATCCCAATCCTGGTGAAGG 0.433000 8 25 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95825586 95825586 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:95825586G>A ENST00000524717.1 - 2 2893 c.1609C>T c.(1609-1611)Ctc>Ttc p.L537F NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 537 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CTTCGACTGAGATCCTGAGGC 0.532000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 11 10 0 0 1 0 0 DDR1 780 broad.mit.edu 37 6 30856766 30856766 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:30856766C>T ENST00000324771.8 + 5 715 c.167C>T c.(166-168)tCc>tTc p.S56F DDR1_ENST00000376568.3_Missense_Mutation_p.S56F|DDR1_ENST00000376575.3_Missense_Mutation_p.S56F|DDR1_ENST00000452441.1_Missense_Mutation_p.S56F|DDR1_ENST00000454612.2_Missense_Mutation_p.S56F|DDR1_ENST00000376567.2_Missense_Mutation_p.S56F|DDR1_ENST00000376570.4_Missense_Mutation_p.S56F|DDR1_ENST00000508312.1_Missense_Mutation_p.S74F|DDR1_ENST00000376569.3_Missense_Mutation_p.S56F|DDR1_ENST00000446312.1_Missense_Mutation_p.S56F|DDR1_ENST00000418800.2_Missense_Mutation_p.S56F|DDR1_ENST00000513240.1_Missense_Mutation_p.S56F Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 56 F5/8 type C. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TGGTCAGATTCCACTGCCGCC 0.607000 16 17 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455735 72455735 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:72455735C>T ENST00000309731.7 - 10 841 c.828G>A c.(826-828)aaG>aaA p.K276K GRAMD2_ENST00000564184.1_5'UTR NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 276 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 TCGGCATCTTCTTAGGGCAGG 0.557000 17 50 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166165233 166165233 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:166165233C>T ENST00000375437.2 + 5 824 c.534C>T c.(532-534)ggC>ggT p.G178G SCN2A_ENST00000283256.6_Silent_p.G178G|SCN2A_ENST00000375427.2_Silent_p.G178G|SCN2A_ENST00000357398.3_Silent_p.G178G NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 178 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTGCAAGGGGCTTTTGTTTAG 0.323000 27 27 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103338460 103338460 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:103338460C>T ENST00000428762.1 - 10 1142 c.983G>A c.(982-984)tGg>tAg p.W328* RELN_ENST00000343529.5_Nonsense_Mutation_p.W328*|RELN_ENST00000424685.2_Nonsense_Mutation_p.W328* NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 328 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) TTCCTGCTTCCACTGAAATTG 0.453000 50 89 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144508265 144508265 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:144508265C>T ENST00000367568.4 + 2 684 c.501C>T c.(499-501)atC>atT p.I167I NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 167 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) AGCTGGAGATCATGGGCAAGG 0.612000 Familial Hemophagocytic Lymphohistiocytosis 10 26 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119234470 119234470 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:119234470C>T ENST00000296498.3 - 7 1657 c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 459 SRCR 3. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 AATCTGGTTTCCTTTCCTGAG 0.502000 27 37 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166891994 166891994 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:166891994G>A ENST00000271417.3 - 8 1102 c.1047C>T c.(1045-1047)ttC>ttT p.F349F ILDR2_ENST00000469934.2_Silent_p.F349F|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Silent_p.F330F|ILDR2_ENST00000528703.1_Silent_p.F290F|ILDR2_ENST00000526687.1_Silent_p.F241F|ILDR2_ENST00000525740.1_Silent_p.F222F NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 349 integral to membrane p.F349F(1) NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 AAGACTGGCGGAAATTGCTGT 0.488000 48 69 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148891414 148891414 + Silent SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:148891414T>C ENST00000261798.5 - 6 1050 c.618A>G c.(616-618)tcA>tcG p.S206S CSNK1A1_ENST00000504676.1_Silent_p.S117S|CSNK1A1_ENST00000377843.2_Silent_p.S206S|CSNK1A1_ENST00000515435.1_Silent_p.S145S|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000515768.1_Silent_p.S234S NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 206 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CATATCCTAATGATTCCATGT 0.338000 3 38 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116381005 116381005 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:116381005G>A ENST00000397752.3 + 5 1827 c.1627G>A c.(1627-1629)Gac>Aac p.D543N MET_ENST00000436117.2_Missense_Mutation_p.D543N|MET_ENST00000318493.6_Missense_Mutation_p.D543N|MET_ENST00000495962.1_3'UTR NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 543 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CTGGTGCCACGACAAATGTGT 0.527000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 16 109 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66992709 66992709 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr8:66992709C>T ENST00000276570.5 + 5 718 c.431C>T c.(430-432)tCa>tTa p.S144L DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 144 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) CGGCCCGAGTCATCAGTGCCA 0.557000 18 17 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21706454 21706454 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:21706454G>A ENST00000281523.2 - 2 607 c.89C>T c.(88-90)tCg>tTg p.S30L ZNF385D_ENST00000494118.1_Intron NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 30 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AATATCCAGCGATGGTTGCAA 0.517000 7 22 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127255464 127255464 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:127255464C>T ENST00000341640.2 - 1 316 c.111G>A c.(109-111)cgG>cgA p.R37R PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000338516.3_Silent_p.R45R|PAX4_ENST00000378740.2_Silent_p.R37R NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 45 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CCTTAAGGATCCGTGAGATGT 0.597000 41 71 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206821195 206821195 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:206821195G>A ENST00000367106.1 + 4 1065 c.592G>A c.(592-594)Ggg>Agg p.G198R DYRK3_ENST00000367108.3_Missense_Mutation_p.G198R|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.G218R O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 218 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TATTGGCAAGGGGAGTTTTGG 0.478000 18 38 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171379852 171379852 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:171379852C>T ENST00000356327.5 - 19 2294 c.2224G>A c.(2224-2226)Gaa>Aaa p.E742K PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.E780K|PLD1_ENST00000340989.4_Missense_Mutation_p.E780K NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 780 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGACTTACTTCGATATAGATA 0.438000 5 8 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93979370 93979370 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:93979370C>T ENST00000369303.4 - 7 1642 c.1458G>A c.(1456-1458)agG>agA p.R486R NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 486 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AGGTCCGTTCCCTTTGATCCT 0.358000 10 33 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154516517 154516517 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:154516517G>A ENST00000368482.4 + 9 1420 c.582G>A c.(580-582)ggG>ggA p.G194G TDRD10_ENST00000368480.3_Silent_p.G194G|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 194 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GCGTCCGTGGGGAGGCGGGGC 0.622000 17 101 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118771480 118771480 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:118771480G>A ENST00000334801.3 - 6 3936 c.2972C>T c.(2971-2973)tCg>tTg p.S991L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 991 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CCTGCTGGGCGAGCCAGTGGG 0.652000 22 20 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17349707 17349707 + Missense_Mutation SNP G G T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:17349707G>T ENST00000242057.4 + 2 856 c.213G>T c.(211-213)agG>agT p.R71S NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 71 Helix-loop-helix motif. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CAGTTCTTAGGCTCAGCGTCA 0.398000 16 30 3.41278e-10 3.45099e-10 1 1 0 TMCO5A 145942 broad.mit.edu 37 15 38229547 38229547 + Splice_Site SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:38229547G>A ENST00000558158.1 + 5 419 c.264_splice c.e5-1 p.E89_splice TMCO5A_ENST00000540944.1_Splice_Site_p.E89_splice|TMCO5A_ENST00000319669.4_Splice_Site_p.E89_splice|TMCO5A_ENST00000559502.1_Splice_Site_p.E89_splice Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 89 integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 TCTCTCACAGGAAAGGAAGAA 0.438000 13 21 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143747584 143747584 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr7:143747584C>T ENST00000408906.2 + 1 124 c.90C>T c.(88-90)ttC>ttT p.F30F NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) CTGGGCTTTTCTCCCTGTTAT 0.512000 47 50 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101375063 101375063 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:101375063C>T ENST00000344327.3 - 2 1061 c.637G>A c.(637-639)Ggg>Agg p.G213R TRPC6_ENST00000532133.1_Missense_Mutation_p.G213R|TRPC6_ENST00000348423.4_Missense_Mutation_p.G213R|TRPC6_ENST00000360497.4_Missense_Mutation_p.G213R NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 213 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AACCGTGTCCCATCTTCATCA 0.488000 15 12 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411162 32411162 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:32411162C>T ENST00000395388.2 + 3 638 c.529C>T c.(529-531)Ccc>Tcc p.P177S HLA-DRA_ENST00000374982.5_Missense_Mutation_p.P152S NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 177 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 CCACTATCTCCCCTTCCTGCC 0.542000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 49 21 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62147517 62147517 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:62147517C>T ENST00000416284.3 - 4 1854 c.270G>A c.(268-270)gtG>gtA p.V90V FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551619.1_Silent_p.V90V|FAM19A2_ENST00000551449.1_Intron NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 90 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) ATTTCTGTTCCACTATTGAAG 0.388000 33 37 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40354389 40354389 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:40354389G>A ENST00000293328.3 - 18 2374 c.2206C>T c.(2206-2208)Ccc>Tcc p.P736S NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 736 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TGAGCCTGGGGACACACAGCT 0.617000 24 16 0 0 1 0 0 EXOC6B 23233 broad.mit.edu 37 2 72719533 72719533 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:72719533G>A ENST00000272427.6 - 16 1709 c.1579C>T c.(1579-1581)Cgg>Tgg p.R527W EXOC6B_ENST00000410104.1_Missense_Mutation_p.R527W NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 527 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 GTTGATTTCCGAATCATGTCA 0.413000 33 24 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161580234 161580234 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:161580234G>A ENST00000356592.3 + 10 1748 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K GABRG2_ENST00000361925.4_Missense_Mutation_p.E422K|GABRG2_ENST00000393933.4_Missense_Mutation_p.E327K|GABRG2_ENST00000414552.2_Missense_Mutation_p.E470K NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 422 Interaction with GABARAP (Potential). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding p.E430*(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTGCTGTTTTGAAGATTGTCG 0.468000 32 6 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701340 56701340 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:56701340G>A ENST00000586855.2 - 5 1657 c.1344C>T c.(1342-1344)ttC>ttT p.F448F ZSCAN5B_ENST00000358992.3_Silent_p.F448F A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 448 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CCTTGTGGCTGAAAACTTTGC 0.552000 8 22 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43527730 43527730 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:43527730C>T ENST00000220420.5 - 10 1658 c.1651G>A c.(1651-1653)Gat>Aat p.D551N TGM5_ENST00000349114.4_Missense_Mutation_p.D469N NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 551 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GGGCTGCCATCGTGCAGCAGA 0.537000 8 22 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63156455 63156455 + Nonsense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:63156455C>T ENST00000449996.3 + 4 382 c.310C>T c.(310-312)Cag>Tag p.Q104* RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Nonsense_Mutation_p.Q104*|RGS9_ENST00000262406.9_Nonsense_Mutation_p.Q104* NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 104 DEP. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CTACAGATTTCAGGTGAGTCT 0.463000 18 30 0 0 1 0 0 SGCG 6445 broad.mit.edu 37 13 23778001 23778001 + Nonsense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:23778001G>A ENST00000218867.3 + 2 292 c.168G>A c.(166-168)tgG>tgA p.W56* SGCG_ENST00000545013.1_Nonsense_Mutation_p.W56*|SGCG_ENST00000537476.1_Nonsense_Mutation_p.W56* NM_000231.2 NP_000222.1 Q13326 SGCG_HUMAN sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 56 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) TTACAATTTGGATTCTTAAAG 0.343000 26 24 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38690731 38690731 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:38690731C>T ENST00000449981.2 + 2 255 c.146C>T c.(145-147)cCt>cTt p.P49L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGTTTCTCTCCTTCCGCAGAA 0.552000 8 34 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52946636 52946636 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:52946636C>T ENST00000267119.5 - 1 295 c.226G>A c.(226-228)Gcc>Acc p.A76T NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 76 Gly-rich.|Head. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) AAGCCACTGGCCCGGCCCCGG 0.632000 4 146 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111025246 111025246 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:111025246G>A ENST00000262839.2 - 8 2935 c.2017C>T c.(2017-2019)Ctt>Ttt p.L673F NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 673 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CAGTTACCAAGGTATAGAAAT 0.463000 59 81 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41012742 41012742 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:41012742G>A ENST00000399564.4 - 30 3528 c.3078C>T c.(3076-3078)gcC>gcT p.A1026A MROH2B_ENST00000506092.2_Silent_p.A581A NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ATATGCCACAGGCCTTTGTAC 0.453000 19 32 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13793757 13793757 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:13793757G>A ENST00000265104.4 - 49 8195 c.8091C>T c.(8089-8091)atC>atT p.I2697I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2697 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGATGTCCACGATGCTGGTGA 0.448000 Kartagener syndrome 23 74 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814764 137814764 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:137814764C>T ENST00000409968.1 + 3 1092 c.914C>T c.(913-915)tCg>tTg p.S305L THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CGGCAGGTTTCGTGTACAAGA 0.363000 10 13 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007457 6007457 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:6007457G>A ENST00000332249.4 - 1 758 c.704C>T c.(703-705)tCc>tTc p.S235F NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGGCATAGGAAACACCAAT 0.517000 26 37 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10720328 10720328 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:10720328G>A ENST00000377022.3 - 6 1088 c.771C>T c.(769-771)ccC>ccT p.P257P CASZ1_ENST00000344008.5_Silent_p.P257P NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TCTTGGTGCTGGGGGCCGGCC 0.682000 12 52 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160825821 160825821 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr2:160825821C>T ENST00000283243.7 - 19 2916 c.2710G>A c.(2710-2712)Gaa>Aaa p.E904K PLA2R1_ENST00000392771.1_Missense_Mutation_p.E904K NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 904 C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ACAGTTCTTTCTCTTCCTGTG 0.373000 26 34 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059273 9059273 + Silent SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:9059273G>A ENST00000397910.4 - 3 28376 c.28173C>T c.(28171-28173)tcC>tcT p.S9391S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9393 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCCTGGCCAGGAGGCTGTGC 0.537000 39 37 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924051 24924051 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:24924051A>G ENST00000329468.2 + 1 3511 c.3037A>G c.(3037-3039)Acc>Gcc p.T1013A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGGACCTGGAACCCCTATGGA 0.522000 8 26 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79177318 79177318 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr17:79177318G>A ENST00000269392.4 - 6 852 c.605C>T c.(604-606)tCc>tTc p.S202F AZI1_ENST00000374782.3_Missense_Mutation_p.S202F|AZI1_ENST00000570482.2_5'UTR|AZI1_ENST00000575907.1_Missense_Mutation_p.S202F|AZI1_ENST00000450824.2_Missense_Mutation_p.S202F NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 202 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGTCTGGTTGGAGCTCTTGAG 0.657000 3 5 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77301985 77301985 + Missense_Mutation SNP T T A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chrX:77301985T>A ENST00000341514.6 + 23 4576 c.4421T>A c.(4420-4422)cTa>cAa p.L1474Q ATP7A_ENST00000350425.4_Missense_Mutation_p.L477Q|ATP7A_ENST00000343533.5_Missense_Mutation_p.L1396Q NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1474 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 AAACGCTCCCTAAACAGTGTT 0.448000 47 166 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754683 76754683 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr18:76754683G>A ENST00000536229.3 + 1 3002 c.2293G>A c.(2293-2295)Gag>Aag p.E765K SALL3_ENST00000575389.2_Missense_Mutation_p.E898K|SALL3_ENST00000537592.2_Missense_Mutation_p.E898K Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 898 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGCCCTGTCCGAGTCCTCGTC 0.726000 14 19 0 0 1 0 0 TMEM201 199953 broad.mit.edu 37 1 9662213 9662213 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:9662213C>T ENST00000340305.5 + 6 1052 c.1043C>T c.(1042-1044)tCg>tTg p.S348L TMEM201_ENST00000340381.6_Missense_Mutation_p.S348L|TMEM201_ENST00000377376.4_Missense_Mutation_p.S348L NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 348 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) CAGGCCGCCTCGCCTAGCTGG 0.647000 33 17 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326311 152326311 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:152326311C>T ENST00000388718.5 - 3 4023 c.3951G>A c.(3949-3951)caG>caA p.Q1317Q FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1317 calcium ion binding|structural molecule activity p.Q1317Q(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TATCTCCTCTCTGTCCATGAG 0.473000 77 105 0 0 1 0 0 BTBD1 53339 broad.mit.edu 37 15 83686847 83686847 + Missense_Mutation SNP T T C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr15:83686847T>C ENST00000261721.4 - 8 1623 c.1421A>G c.(1420-1422)cAa>cGa p.Q474R RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_3'UTR NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 474 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) TTCTGGAATTTGTCCATCTTC 0.318000 17 8 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599806 29599806 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr13:29599806G>A ENST00000431530.3 + 1 1059 c.1001G>A c.(1000-1002)gGa>gAa p.G334E NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 324 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GAACAGGAGGGAAAGGCAGCC 0.532000 13 11 0 0 1 0 0 PDPK2P 653650 broad.mit.edu 37 16 2692083 2692083 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr16:2692083C>T ENST00000382326.1 - 0 1068 AAGTGGCCTTCACAACAGGTG 0.557000 3 0 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60164170 60164170 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:60164170G>A ENST00000300187.6 + 1 396 c.119G>A c.(118-120)gGa>gAa p.G40E MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Missense_Mutation_p.G40E|MS4A14_ENST00000395005.2_Missense_Mutation_p.G40E|MS4A14_ENST00000395001.1_5'UTR NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 40 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 TTTCTGAAGGGAGAGCCAAGA 0.438000 4 12 0 0 1 0 0 MORN5 254956 broad.mit.edu 37 9 124929050 124929050 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:124929050G>A ENST00000536616.1 + 2 89 c.51G>A c.(49-51)atG>atA p.M17I MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.M17I Q5VZ52 MORN5_HUMAN MORN repeat containing 5 17 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 TTTACAGGATGGAGGGCAAAG 0.532000 6 1 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332563 70332563 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:70332563C>T ENST00000338508.4 - 32 3837 c.3838G>A c.(3838-3840)Gag>Aag p.E1280K SHANK2_ENST00000409161.1_Missense_Mutation_p.E683K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E900K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E684K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 900 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TACTTGTTCTCCGTCTCCTGC 0.592000 23 32 0 0 1 0 0 IGHV1-3 28473 broad.mit.edu 37 14 106471673 106471673 + RNA SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr14:106471673C>T ENST00000390595.2 - 0 50 TCCTCCAGGTCCAGTCCATGG 0.547000 19 2 0 0 1 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41318390 41318390 + Missense_Mutation SNP A A G TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr22:41318390A>G ENST00000357137.4 + 8 1193 c.1109A>G c.(1108-1110)gAt>gGt p.D370G XPNPEP3_ENST00000544094.1_Missense_Mutation_p.D347G NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 370 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 ATCCAAAGAGATTGTTTGGCC 0.473000 111 87 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98072733 98072733 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:98072733C>T ENST00000354924.2 + 1 36 c.36C>T c.(34-36)ttC>ttT p.F12F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 CAGCTGAATTCATCCTCATAG 0.418000 14 42 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22820480 22820480 + RNA SNP C C A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:22820480C>A ENST00000511446.1 + 0 1347 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GACCCCGAGTCCCTTACACAT 0.502000 17 6 1.33834e-09 1.35206e-09 1 1 0 FANCD2 2177 broad.mit.edu 37 3 10136044 10136044 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:10136044C>T ENST00000287647.3 + 40 4053 c.3960C>T c.(3958-3960)caC>caT p.H1320H FANCD2_ENST00000419585.1_Silent_p.H1320H|FANCD2_ENST00000383807.1_Silent_p.H1320H|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1320 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTAGAAAACACCGGGTAAGAG 0.468000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 101 77 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152748803 152748803 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:152748803C>T ENST00000367253.4 - 36 5124 c.5125G>A c.(5125-5127)Gga>Aga p.G1709R SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000448038.1_Intron Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5381 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTATTTTTTCCTTCCTCACAC 0.353000 HNSCC(10;0.0054) 20 21 0 0 1 0 0 LSM11 134353 broad.mit.edu 37 5 157181871 157181871 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:157181871C>T ENST00000286307.5 + 4 738 c.682C>T c.(682-684)Cgg>Tgg p.R228W NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 228 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTATTTGATCGGCTGAAACT 0.363000 11 3 0 0 1 0 0 GZMA 3001 broad.mit.edu 37 5 54405998 54405998 + Missense_Mutation SNP G G C TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr5:54405998G>C ENST00000274306.6 + 5 812 c.777G>C c.(775-777)aaG>aaC p.K259N NM_006144.3 NP_006135.1 P12544 GRAA_HUMAN granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) 259 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 25 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TGACTATCAAGGGAGCAGTTT 0.378000 14 42 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31374421 31374421 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr20:31374421C>T ENST00000328111.2 + 5 741 c.420C>T c.(418-420)ttC>ttT p.F140F DNMT3B_ENST00000344505.4_Silent_p.F140F|DNMT3B_ENST00000353855.2_Silent_p.F140F|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Silent_p.F140F|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Silent_p.F152F NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 140 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCGTGGAGTTCCCGGCTACCA 0.627000 31 34 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113857486 113857486 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr11:113857486G>A ENST00000355556.2 + 7 1203 c.970G>A c.(970-972)Gag>Aag p.E324K HTR3A_ENST00000504030.2_Intron|HTR3A_ENST00000299961.5_Intron|HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.E318K|HTR3A_ENST00000535865.1_Intron NM_213621.3 NP_998786.2 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 305 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TCAGTCTGGTGAGAAACCCGC 0.597000 27 25 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39865006 39865006 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr4:39865006G>A ENST00000303538.8 - 24 3255 c.2716C>T c.(2716-2718)Cat>Tat p.H906Y NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 906 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 ATAATTTCATGGTAACAAGGT 0.333000 5 14 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155936216 155936216 + Frame_Shift_Del DEL G G - TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr1:155936216delG ENST00000368316.1 - 8 720 c.250delC c.(250-252)gafs p.R84fs ARHGEF2_ENST00000313667.4_Frame_Shift_Del_p.R111fs|ARHGEF2_ENST00000361247.4_Frame_Shift_Del_p.R111fs|ARHGEF2_ENST00000313695.7_Frame_Shift_Del_p.R84fs|ARHGEF2_ENST00000368315.3_Frame_Shift_Del_p.R112fs Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 111 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CTCTTACTTCGAAGAGAAACG 0.562 31 45 --- --- --- --- ATRIP 84126 broad.mit.edu 37 3 48501288 48501289 + Frame_Shift_Del DEL CC CC - TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr3:48501288_48501289delCC ENST00000412052.1 + 7 1211_1212 c.749_750delCC c.(748-750)afs p.T250fs ATRIP_ENST00000320211.3_Frame_Shift_Del_p.T343fs|ATRIP_ENST00000346691.4_Frame_Shift_Del_p.T343fs|ATRIP_ENST00000357105.6_Frame_Shift_Del_p.T216fs NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 343 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCTGCTGGCACCCCCCTGCAGC 0.535 Other conserved DNA damage response genes 46 56 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32017236 32017236 + Frame_Shift_Del DEL G G - TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr6:32017236delG ENST00000375244.3 - 28 9769 c.9568delC c.(9568-9570)agfs p.Q3190fs TNXB_ENST00000375247.2_Frame_Shift_Del_p.Q3188fs P22105 TENX_HUMAN tenascin XB 3235 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AAGCGGCCCTGGGGGACGGTC 0.692 20 117 --- --- --- --- OR13C5 138799 broad.mit.edu 37 9 107361451 107361452 + Frame_Shift_Del DEL GC GC - TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr9:107361451_107361452delGC ENST00000374779.2 - 1 336_337 c.243_244delGC c.(241-246)actafs p.TL81fs NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 AAGCTCACTAGCGTGGAGGGAA 0.510 3 6 --- --- --- --- NR4A1 3164 broad.mit.edu 37 12 52448454 52448454 + Frame_Shift_Del DEL C C - TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:52448454delC ENST00000545748.1 + 3 1499 c.504delC c.(502-504)ggfs p.G168fs NR4A1_ENST00000394824.2_Frame_Shift_Del_p.G114fs|NR4A1_ENST00000394825.1_Frame_Shift_Del_p.G114fs|NR4A1_ENST00000550082.1_Frame_Shift_Del_p.G127fs|NR4A1_ENST00000548232.1_Frame_Shift_Del_p.G114fs|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000243050.1_Frame_Shift_Del_p.G114fs|NR4A1_ENST00000360284.3_Frame_Shift_Del_p.G127fs P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 114 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GCTACCCCGGCCCCCTGAGCG 0.677 47 89 --- --- --- --- KNTC1 9735 broad.mit.edu 37 12 123087590 123087591 + Frame_Shift_Del DEL TG TG - TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr12:123087590_123087591delTG ENST00000333479.7 + 48 5078_5079 c.4901_4902delTG c.(4900-4902)cfs p.L1634fs KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Frame_Shift_Del_p.L59fs|KNTC1_ENST00000436959.3_5'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1634 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CTGGACACTCTGTACGTGTCTA 0.366 2 4 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1D84AB9A-8603-4A0D-A250-EEDFCE113241 019F425C-9609-4F27-AB25-EA54BE720545 g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)gca>gCGGca p.366_366A>AA NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 3 3 --- --- --- ---