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 CYP2A7 1549 broad.mit.edu 37 19 41383142 41383142 + Missense_Mutation SNP G G A rs151290022 TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:41383142G>A ENST00000301146.4 - 7 1655 c.1114C>T c.(1114-1116)Cgc>Tgc p.R372C CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 372 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TTAACCCTGCGGGCCAAACTC 0.547000 54 116 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187626455 187626455 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr2:187626455C>T ENST00000304698.5 + 8 1589 c.1386C>T c.(1384-1386)atC>atT p.I462I NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 462 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ATTTTAAAATCTACAATGAAG 0.368000 19 49 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230384989 230384989 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:230384989C>T ENST00000366672.4 + 9 949 c.877C>T c.(877-879)Cgg>Tgg p.R293W GALNT2_ENST00000543760.1_Missense_Mutation_p.R255W|GALNT2_ENST00000541865.1_Missense_Mutation_p.R203W NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 293 R -> Q (in Ref. 1; AA sequence). immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GAGAAGGTCCCGGCAGGGGAA 0.552000 34 69 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 132 0 0 1 0 0 ADSSL1 122622 broad.mit.edu 37 14 105209437 105209437 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr14:105209437G>A ENST00000332972.5 + 10 1270 c.1111G>A c.(1111-1113)Gag>Aag p.E371K ADSSL1_ENST00000330877.2_Missense_Mutation_p.E328K NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 328 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CCGCGGCCACGAGTGGGGAGT 0.597000 71 67 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60780898 60780898 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:60780898C>T ENST00000313421.7 + 7 1340 c.1154C>T c.(1153-1155)tCt>tTt p.S385F CD6_ENST00000352009.5_Missense_Mutation_p.S385F|CD6_ENST00000452451.2_Missense_Mutation_p.S385F|CD6_ENST00000346437.4_Missense_Mutation_p.S385F|CD6_ENST00000344028.5_Missense_Mutation_p.S385F|CD6_ENST00000545105.1_3'UTR NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 385 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 TTTCCAGAATCTTCTGTGACA 0.463000 97 115 0 0 1 0 0 SLC11A2 4891 broad.mit.edu 37 12 51402369 51402369 + Missense_Mutation SNP C C A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:51402369C>A ENST00000394904.3 - 3 209 c.160G>T c.(160-162)Ggt>Tgt p.G54C SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000262052.5_Missense_Mutation_p.G25C|SLC11A2_ENST00000545993.2_Missense_Mutation_p.G21C|SLC11A2_ENST00000547688.1_Missense_Mutation_p.G54C|SLC11A2_ENST00000262051.7_Missense_Mutation_p.G25C|SLC11A2_ENST00000547198.1_Missense_Mutation_p.G25C|SLC11A2_ENST00000541174.2_Missense_Mutation_p.G25C|SLC11A2_ENST00000546743.1_Intron NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 25 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 TTGATGTTACCAAGACTGGCA 0.398000 4 134 0.150653 0.151859 1 1 0 PRKDC 5591 broad.mit.edu 37 8 48716043 48716043 + Splice_Site SNP T T C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr8:48716043T>C ENST00000314191.2 - 71 9801 c.e71-2 PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GAAATTGTTCTGTATGAATAC 0.443000 Non-homologous end-joining 59 185 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55892660 55892660 + Missense_Mutation SNP A A T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr10:55892660A>T ENST00000373965.2 - 16 2307 c.1913T>A c.(1912-1914)gTt>gAt p.V638D PCDH15_ENST00000320301.6_Missense_Mutation_p.V631D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V631D|PCDH15_ENST00000395446.1_Missense_Mutation_p.V631D|PCDH15_ENST00000395433.1_Missense_Mutation_p.V609D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.V638D|PCDH15_ENST00000414778.1_Missense_Mutation_p.V636D|PCDH15_ENST00000373955.1_Missense_Mutation_p.V631D|PCDH15_ENST00000373957.3_Missense_Mutation_p.V609D|PCDH15_ENST00000395438.1_Missense_Mutation_p.V631D|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V631D|PCDH15_ENST00000409834.1_Missense_Mutation_p.V242D|PCDH15_ENST00000395432.2_Missense_Mutation_p.V594D NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 631 Cadherin 6. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AACAGCACCAACCCTCATGGC 0.398000 HNSCC(58;0.16) 13 19 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 633482 633482 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr16:633482C>T ENST00000026218.5 + 10 2219 c.2131C>T c.(2131-2133)Ccc>Tcc p.P711S PIGQ_ENST00000321878.5_3'UTR NM_148920.2 NP_683721.1 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 711 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) ACCCCCCAGTCCCAGGCACCC 0.701000 33 41 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183594593 183594593 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr2:183594593G>A ENST00000264065.7 + 8 1067 c.652G>A c.(652-654)Gga>Aga p.G218R DNAJC10_ENST00000537515.1_Missense_Mutation_p.G218R NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 Thioredoxin 1. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GAAATATCATGGAGACAGATC 0.308000 49 64 0 0 1 0 0 MT-ATP6 4508 broad.mit.edu 37 MT 9064 9064 + Missense_Mutation SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chrM:9064G>C ENST00000361899.2 + 1 538 c.538G>C c.(538-540)Gca>Cca p.A180P mitochondrially encoded ATP synthase 6 breast(2)|endometrium(7)|kidney(8)|prostate(1) 18 GCGCCACCCTAGCAATATCAA 0.468000 4 1 0 0 1 0 0 MTA1 9112 broad.mit.edu 37 14 105930894 105930894 + Missense_Mutation SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr14:105930894G>T ENST00000331320.7 + 14 1548 c.1334G>T c.(1333-1335)cGc>cTc p.R445L MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000405646.1_Missense_Mutation_p.R428L|MTA1_ENST00000406191.1_Missense_Mutation_p.R445L NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 445 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GGACCAAACCGCAGTAACATG 0.597000 23 35 5.35356e-11 5.96945e-11 1 1 0 MPPED2 744 broad.mit.edu 37 11 30601899 30601899 + Missense_Mutation SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:30601899G>C ENST00000448418.2 - 2 382 c.22C>G c.(22-24)Caa>Gaa p.Q8E MPPED2_ENST00000358117.5_Missense_Mutation_p.Q8E NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 8 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 ACTTTGCCTTGAGAAGGAATC 0.493000 31 4 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368671 22368671 + Silent SNP A A T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr15:22368671A>T ENST00000332663.2 + 1 194 c.96A>T c.(94-96)ctA>ctT p.L32L RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTATATTTCTATCCTTCTATT 0.403000 89 189 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47163454 47163454 + Silent SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr4:47163454G>T ENST00000295454.3 + 4 721 c.429G>T c.(427-429)ctG>ctT p.L143L GABRB1_ENST00000538619.1_Silent_p.L73L NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 143 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGATTCGACTGCATCCTGATG 0.393000 41 158 5.44703e-19 6.29656e-19 1 1 0 OR4M2 390538 broad.mit.edu 37 15 22368696 22368696 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr15:22368696G>A ENST00000332663.2 + 1 219 c.121G>A c.(121-123)Gga>Aga p.G41R RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CATCCTACCAGGAAATATCCT 0.418000 108 248 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82450313 82450313 + Missense_Mutation SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:82450313G>T ENST00000370728.1 + 22 3962 c.3317G>T c.(3316-3318)gGa>gTa p.G1106V LPHN2_ENST00000370730.1_Missense_Mutation_p.G1106V|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1108V|LPHN2_ENST00000335786.5_Missense_Mutation_p.G1106V|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1031V|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1093V|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1121V|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1121V|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1121V|LPHN2_ENST00000370715.1_Missense_Mutation_p.G1093V|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1108V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1093V|LPHN2_ENST00000370713.1_Missense_Mutation_p.G1093V|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1121V O95490 LPHN2_HUMAN latrophilin 2 1106 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TACTGCTGTGGAGGCCTCCCA 0.463000 63 76 6.75472e-32 8.0292e-32 1 1 0 MDM1 56890 broad.mit.edu 37 12 68696517 68696517 + Missense_Mutation SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:68696517G>C ENST00000303145.7 - 12 1941 c.1855C>G c.(1855-1857)Cca>Gca p.P619A MDM1_ENST00000411698.2_Missense_Mutation_p.P584A|MDM1_ENST00000540418.1_Missense_Mutation_p.P339A NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 619 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) GGGTATTTTGGAATTTTTGAA 0.458000 49 1547 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50682838 50682838 + Missense_Mutation SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr6:50682838G>T ENST00000008391.3 + 2 277 c.49G>T c.(49-51)Gac>Tac p.D17Y NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 17 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) GATACGTCACGACGGATCAAA 0.517000 35 101 7.83172e-31 9.2224e-31 1 1 0 TNPO3 23534 broad.mit.edu 37 7 128645214 128645214 + Splice_Site SNP C C A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr7:128645214C>A ENST00000393245.1 - 5 926 c.e5-1 TNPO3_ENST00000471234.1_Splice_Site|TNPO3_ENST00000265388.5_Splice_Site|TNPO3_ENST00000482320.1_Splice_Site|TNPO3_ENST00000471166.1_Splice_Site NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CACAGGTCATCTGAATAGAGA 0.303000 28 47 3.73148e-12 4.19791e-12 1 1 0 PIGQ 9091 broad.mit.edu 37 16 633559 633559 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr16:633559C>T ENST00000026218.5 + 10 2296 c.2208C>T c.(2206-2208)ccC>ccT p.P736P PIGQ_ENST00000321878.5_3'UTR NM_148920.2 NP_683721.1 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 736 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CCCCCGTCCCCAGCGGGCCCG 0.622000 42 60 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19774149 19774149 + Silent SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:19774149G>T ENST00000357324.6 - 1 353 c.327C>A c.(325-327)ctC>ctA p.L109L NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 109 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GCGCGTGCGCGAGGCAGATGG 0.692000 5 8 0.0215528 0.0219004 1 1 0 PPFIA2 8499 broad.mit.edu 37 12 81833788 81833788 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:81833788G>A ENST00000550584.2 - 6 903 c.608C>T c.(607-609)tCt>tTt p.S203F PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S203F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S129F|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S203F|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S50F|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S203F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S185F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S185F|RP11-315E17.1_ENST00000550272.1_RNA NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 129 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TTCCAGTGCAGAGACTCTTTC 0.413000 5 20 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142627453 142627453 + Nonsense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr7:142627453G>A ENST00000265310.1 - 2 565 c.217C>T c.(217-219)Cga>Tga p.R73* TRPV5_ENST00000442623.1_Nonsense_Mutation_p.R73* NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 73 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) CCTCTTTGTCGAACGTCACAG 0.507000 36 59 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149512310 149512310 + RNA SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr7:149512310C>T ENST00000378016.2 + 0 10630 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCTGCCCCCGCTCCTGCCA 0.677000 36 45 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 746035 746035 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr20:746035C>T ENST00000381944.3 - 2 625 c.384G>A c.(382-384)ccG>ccA p.P128P SLC52A3_ENST00000217254.7_Silent_p.P128P|SLC52A3_ENST00000473664.1_5'UTR Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 128 sensory perception of sound integral to plasma membrane riboflavin transporter activity GGCTCATGAACGGCAGGAAGG 0.632000 18 33 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65320683 65320683 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:65320683C>T ENST00000301873.5 - 5 1283 c.1015G>A c.(1015-1017)Gct>Act p.A339T LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.A339T NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 339 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GGACAGTCAGCGCCCACTTCC 0.627000 35 77 0 0 1 0 0 FAM213A 84293 broad.mit.edu 37 10 82185631 82185631 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr10:82185631G>A ENST00000372181.1 + 3 750 c.280G>A c.(280-282)Gat>Aat p.D94N FAM213A_ENST00000372188.1_Missense_Mutation_p.D94N|FAM213A_ENST00000372187.5_Missense_Mutation_p.D94N|FAM213A_ENST00000372185.1_Missense_Mutation_p.D83N NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 94 extracellular region GGAAGCTGCGGATCTGTCCTC 0.567000 4 92 0 0 1 0 0 WDPCP 51057 broad.mit.edu 37 2 63609079 63609079 + Missense_Mutation SNP T T G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr2:63609079T>G ENST00000409120.1 - 5 4560 c.1010A>C c.(1009-1011)aAc>aCc p.N337T WDPCP_ENST00000409562.3_Missense_Mutation_p.N529T|WDPCP_ENST00000398544.3_Missense_Mutation_p.N370T|WDPCP_ENST00000409199.1_Missense_Mutation_p.N337T|WDPCP_ENST00000272321.7_Missense_Mutation_p.N529T|WDPCP_ENST00000409835.1_5'UTR O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 529 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 AAGAAGATGGTTTACAATGGC 0.398000 34 37 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 10 0.00909568 0.00931753 1 1 0 MSH4 4438 broad.mit.edu 37 1 76313915 76313915 + Missense_Mutation SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:76313915C>G ENST00000263187.3 + 8 1288 c.1184C>G c.(1183-1185)aCa>aGa p.T395R NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 395 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TTTCTTGATACAGAGCAGCTT 0.269000 Mismatch excision repair (MMR) 20 31 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 17 15 1.99824e-07 2.1705e-07 1 1 0 GRM7 2917 broad.mit.edu 37 3 6903420 6903420 + Silent SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr3:6903420G>A ENST00000486284.1 + 1 619 c.345G>A c.(343-345)gcG>gcA p.A115A GRM7_ENST00000402647.2_Silent_p.A115A|GRM7_ENST00000403881.1_Silent_p.A115A|GRM7_ENST00000357716.4_Silent_p.A115A|GRM7_ENST00000389336.4_Silent_p.A115A NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 115 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ACACTTACGCGCTCGAACAGT 0.607000 43 40 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6681670 6681670 + Silent SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:6681670G>A ENST00000377648.4 + 4 1258 c.876G>A c.(874-876)acG>acA p.T292T PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 292 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) GCTCGCGGACGGGCTCCCGGA 0.582000 21 49 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338075 13338075 + RNA SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr4:13338075C>G ENST00000602906.1 + 0 123 kidney(3)|lung(1) 4 CTACCTTGCTCTTTAATACGT 0.502000 7 29 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128842667 128842667 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:128842667G>A ENST00000310343.9 - 21 3691 c.3692C>T c.(3691-3693)gCa>gTa p.A1231V ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.A882V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.A882V NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1231 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AGATTTGTCTGCAAATTCTAA 0.478000 4 88 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89148322 89148322 + Missense_Mutation SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr14:89148322G>C ENST00000554922.1 - 21 3284 c.3036C>G c.(3034-3036)atC>atG p.I1012M EML5_ENST00000352093.5_Missense_Mutation_p.I974M|EML5_ENST00000380664.5_Missense_Mutation_p.I1012M NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1012 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAGTAGCACAGATGGGCAGAT 0.418000 27 51 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102051057 102051057 + Splice_Site SNP C C A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr10:102051057C>A ENST00000318222.3 - 12 2390 c.e12+1 PKD2L1_ENST00000353274.3_Splice_Site|PKD2L1_ENST00000338519.3_Splice_Site NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GCCCAGCTCACCCTCTCTTCC 0.512000 55 68 1.11015e-26 1.29517e-26 1 1 0 TLX1 3195 broad.mit.edu 37 10 102896476 102896476 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr10:102896476G>A ENST00000370196.6 + 3 2841 c.799G>A c.(799-801)Gag>Aag p.E267K TLX1_ENST00000467928.2_3'UTR|RP11-31L23.3_ENST00000411459.1_RNA P31314 TLX1_HUMAN T-cell leukemia homeobox 1 267 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|upper_aerodigestive_tract(1) 2 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) ACGGGAGGCCGAGAGGCAGCA 0.667000 T """TRB@, TRD@""" T-ALL 62 79 0 0 1 0 0 AMY1C 278 broad.mit.edu 37 1 104297226 104297226 + Silent SNP T T A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:104297226T>A ENST00000370079.3 + 6 1048 c.984T>A c.(982-984)ctT>ctA p.L328L NM_001008219.1 NP_001008220.1 P04745 AMY1_HUMAN amylase, alpha 1C (salivary) 328 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding|protein binding lung(5)|skin(3) 8 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) CCTCTATACTTACCTTCTGGG 0.403000 74 562 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162771 33162771 + RNA SNP T T A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr5:33162771T>A ENST00000510327.1 - 0 346 AGCAGTCTCCTGGAAGAGCAG 0.453000 6 23 0 0 1 0 0 COPZ1 22818 broad.mit.edu 37 12 54734300 54734300 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:54734300C>T ENST00000549043.1 + 2 107 c.12C>T c.(10-12)ttC>ttT p.F4F COPZ1_ENST00000552362.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000262061.2_Intron|COPZ1_ENST00000548753.1_Intron|COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000551779.1_Intron|COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000553231.1_Intron P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 0 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 TGGGAGGCTTCAGGACTGAAG 0.493000 31 94 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4875813 4875813 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr17:4875813G>A ENST00000361571.5 - 15 2930 c.2519C>T c.(2518-2520)tCg>tTg p.S840L CAMTA2_ENST00000381311.5_Missense_Mutation_p.S843L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S846L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S841L|CAMTA2_ENST00000348066.3_Missense_Mutation_p.S841L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S864L NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 841 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CTCCGAGGGCGAGGAGACGCT 0.637000 10 38 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10622526 10622526 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:10622526C>T ENST00000547195.1 - 14 2183 c.1683G>A c.(1681-1683)gcG>gcA p.A561A MRVI1_ENST00000423302.2_Silent_p.A652A|MRVI1_ENST00000436272.1_Silent_p.A625A|MRVI1_ENST00000545852.1_Silent_p.A337A|MRVI1_ENST00000421747.1_Silent_p.A643A|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Silent_p.A337A|MRVI1_ENST00000541483.1_Silent_p.A446A|MRVI1_ENST00000534266.2_Silent_p.A337A|MRVI1_ENST00000424001.1_Silent_p.A337A|MRVI1_ENST00000531107.1_Silent_p.A644A|MRVI1_ENST00000527509.2_Silent_p.A561A|MRVI1_ENST00000552103.1_Silent_p.A561A NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 625 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CCATGAGCTCCGCATGGTCCT 0.522000 103 12 0 0 1 0 0 GRASP 160622 broad.mit.edu 37 12 52408572 52408572 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:52408572C>T ENST00000293662.4 + 8 857 c.777C>T c.(775-777)ttC>ttT p.F259F GRASP_ENST00000380039.2_Silent_p.F116F|GRASP_ENST00000552049.1_Silent_p.F116F|GRASP_ENST00000552963.1_3'UTR NM_181711.2 NP_859062.1 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 259 cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) CGCTGCCCTTCGGGCCTCTGC 0.741000 6 24 0 0 1 0 0 DYNLT1 6993 broad.mit.edu 37 6 159057860 159057860 + Nonstop_Mutation SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr6:159057860C>G ENST00000367089.3 - 5 371 c.341G>C c.(340-342)tGa>tCa p.*114S DYNLT1_ENST00000367088.1_3'UTR NM_006519.2 NP_006510.1 P63172 DYLT1_HUMAN dynein, light chain, Tctex-type 1 0 cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle identical protein binding|motor activity lung(2) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06) GACTGCAGGTCAAATAGACAG 0.488000 5 11 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35122567 35122567 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr21:35122567C>T ENST00000381318.3 + 6 754 c.466C>T c.(466-468)Ccc>Tcc p.P156S ITSN1_ENST00000399326.3_Missense_Mutation_p.P156S|ITSN1_ENST00000399338.4_Missense_Mutation_p.P156S|ITSN1_ENST00000399367.3_Missense_Mutation_p.P156S|ITSN1_ENST00000381291.4_Missense_Mutation_p.P156S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.P156S|ITSN1_ENST00000381285.4_Missense_Mutation_p.P156S|ITSN1_ENST00000437442.2_Missense_Mutation_p.P156S|ITSN1_ENST00000399355.2_Missense_Mutation_p.P156S|ITSN1_ENST00000399353.1_Missense_Mutation_p.P119S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P156S|ITSN1_ENST00000379960.5_Missense_Mutation_p.P156S NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 156 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 vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AGCAGCTGTGCCCCCCCTGGC 0.522000 4 96 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70960066 70960066 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr15:70960066G>A ENST00000322954.6 - 16 3142 c.2957C>T c.(2956-2958)gCc>gTc p.A986V UACA_ENST00000379983.2_Missense_Mutation_p.A973V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V|UACA_ENST00000560441.1_Missense_Mutation_p.A971V NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 986 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GACAATTGGGGCGTATTTTAC 0.403000 4 123 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33469144 33469144 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr10:33469144C>T ENST00000265371.4 - 18 3157 c.2632G>A c.(2632-2634)Gtg>Atg p.V878M NRP1_ENST00000374867.2_Missense_Mutation_p.V878M|NRP1_ENST00000395995.1_Missense_Mutation_p.V861M|NRP1_ENST00000374875.1_Missense_Mutation_p.V690M O14786 NRP1_HUMAN neuropilin 1 878 axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CAGTACAGCACGACCCCACAG 0.507000 92 76 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 976686 976686 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:976686C>T ENST00000379370.2 + 5 911 c.861C>T c.(859-861)agC>agT p.S287S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 287 Kazal-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TCTGCGGCAGCGACGGCGCCG 0.741000 4 4 0 0 1 0 0 CMPK2 129607 broad.mit.edu 37 2 6990106 6990106 + Splice_Site SNP T T A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr2:6990106T>A ENST00000256722.5 - 5 1226 c.e5-2 CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_Splice_Site NM_207315.3 NP_997198.2 Q5EBM0 CMPK2_HUMAN cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATTTCTACCCTGGGGACAGGC 0.453000 27 46 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48450120 48450120 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr7:48450120G>A ENST00000435803.1 + 40 12098 c.12074G>A c.(12073-12075)cGt>cAt p.R4025H NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4025 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity p.R4025H(1)|p.R3970H(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GACCCAGGTCGTACGATCATC 0.602000 62 75 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52395199 52395199 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr3:52395199G>A ENST00000420323.2 + 29 4966 c.4705G>A c.(4705-4707)Gga>Aga p.G1569R NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1569 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GACACTGACCGGAGCTCTGCA 0.612000 21 21 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29409304 29409304 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr15:29409304C>T ENST00000558402.1 + 16 2817 c.2218C>T c.(2218-2220)Ctc>Ttc p.L740F APBA2_ENST00000561069.1_Missense_Mutation_p.L740F|APBA2_ENST00000558330.1_Missense_Mutation_p.L728F|APBA2_ENST00000558259.1_Missense_Mutation_p.L740F|APBA2_ENST00000411764.1_Missense_Mutation_p.L728F Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 740 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GTTCAGGCTCCTCACGGGTCA 0.682000 7 165 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450780 55450780 + Silent SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:55450780G>A ENST00000446217.1 - 6 1893 c.1491C>T c.(1489-1491)ctC>ctT p.L497L NLRP7_ENST00000340844.2_Silent_p.L469L|NLRP7_ENST00000590030.1_Silent_p.L469L|NLRP7_ENST00000328092.5_Silent_p.L469L|NLRP7_ENST00000588756.1_Silent_p.L469L|NLRP7_ENST00000448121.2_Silent_p.L469L|NLRP7_ENST00000592784.1_Silent_p.L469L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 469 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCTGGAAGCTGAGGTGGATGA 0.617000 34 71 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57290593 57290593 + Missense_Mutation SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr17:57290593G>C ENST00000543872.2 + 4 2673 c.2409G>C c.(2407-2409)agG>agC p.R803S CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.R803S Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 803 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TTGTCATCAGGACTAGAGCTG 0.428000 75 85 0 0 1 0 0 ZNF554 115196 broad.mit.edu 37 19 2832379 2832379 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:2832379G>A ENST00000317243.5 + 4 530 c.332G>A c.(331-333)aGt>aAt p.S111N ZNF554_ENST00000591265.1_Missense_Mutation_p.S111N NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 111 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 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) CAAGTCACTAGTCTTTCCTCA 0.448000 87 89 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125398009 125398009 + Splice_Site SNP T T C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:125398009T>C ENST00000546120.1 - 2 375 c.309A>G c.(307-309)aaA>aaG p.K103K UBC_ENST00000339647.5_Silent_p.K103K|UBC_ENST00000536769.1_Silent_p.K103K|UBC_ENST00000538617.1_Silent_p.K103K P0CG48 UBC_HUMAN ubiquitin C 179 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GGATCTTTGCTTTGACGTTCT 0.537000 4 116 0 0 1 0 0 ALG10B 144245 broad.mit.edu 37 12 38714110 38714110 + Missense_Mutation SNP A A G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:38714110A>G ENST00000308742.4 + 3 833 c.517A>G c.(517-519)Aaa>Gaa p.K173E ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 173 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) TGGAAATCATAAAACTTCAGC 0.338000 79 75 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124348766 124348766 + Missense_Mutation SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr8:124348766C>G ENST00000287394.5 - 22 3165 c.3058G>C c.(3058-3060)Gat>Cat p.D1020H ATAD2_ENST00000521903.1_Missense_Mutation_p.D338H NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1020 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTGACATAATCAGGAACCTAA 0.328000 27 112 0 0 1 0 0 FAM118B 79607 broad.mit.edu 37 11 126120474 126120474 + Missense_Mutation SNP T T G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:126120474T>G ENST00000533050.1 + 5 906 c.413T>G c.(412-414)aTg>aGg p.M138R FAM118B_ENST00000360194.4_Missense_Mutation_p.M138R|FAM118B_ENST00000529731.1_Intron|FAM118B_ENST00000525728.1_3'UTR NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B 138 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) GAGTCAAAGATGGAAGATTCT 0.368000 29 45 0 0 1 0 0 KBTBD11 9920 broad.mit.edu 37 8 1950115 1950115 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr8:1950115G>A ENST00000320248.3 + 2 1723 c.757G>A c.(757-759)Gac>Aac p.D253N NM_014867.2 NP_055682.1 O94819 KBTBB_HUMAN kelch repeat and BTB (POZ) domain containing 11 253 lung(1)|pancreas(1) 2 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134) CGAGCTGCGCGACGCCGCCTA 0.726000 4 7 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55248168 55248168 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr5:55248168C>T ENST00000381298.2 - 12 1774 c.1462G>A c.(1462-1464)Gag>Aag p.E488K IL6ST_ENST00000502326.3_Missense_Mutation_p.E488K|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.E488K|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.E427K|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_3'UTR NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 488 Fibronectin type-III 4. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) CATTTGCTCTCTGCTAAGTTC 0.343000 O hepatocellular ca 26 32 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83359462 83359462 + Missense_Mutation SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:83359462G>T ENST00000549919.1 + 7 3595 c.1790G>T c.(1789-1791)aGc>aTc p.S597I TMTC2_ENST00000548305.1_Missense_Mutation_p.S603I|TMTC2_ENST00000321196.3_Missense_Mutation_p.S603I Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 603 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GCACACAAGAGCTCTGTTACC 0.483000 30 10 3.1745e-13 3.60348e-13 1 1 0 MDM1 56890 broad.mit.edu 37 12 68690759 68690759 + Missense_Mutation SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:68690759C>G ENST00000303145.7 - 13 2062 c.1976G>C c.(1975-1977)gGa>gCa p.G659A MDM1_ENST00000411698.2_Missense_Mutation_p.G624A|MDM1_ENST00000540418.1_Missense_Mutation_p.G379A NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 659 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CCTTGCTTTTCCCACTTAAAA 0.323000 12 343 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53039072 53039072 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:53039072C>T ENST00000309680.3 - 9 1672 c.1651G>A c.(1651-1653)Ggt>Agt p.G551S NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 551 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CCTCCACTACCGCCTCTGGAG 0.577000 149 425 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54905744 54905744 + Missense_Mutation SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:54905744C>G ENST00000293373.6 + 9 875 c.796C>G c.(796-798)Ctt>Gtt p.L266V NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L216V|NCKAP1L_ENST00000552211.1_3'UTR NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 266 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TGGGTTTCTTCTTTGTCATGG 0.478000 41 179 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5778498 5778498 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:5778498C>T ENST00000381624.3 + 22 2269 c.2208C>T c.(2206-2208)tcC>tcT p.S736S CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 736 integral to membrane TCCTGGGGTCCGTTTGGCTGG 0.567000 47 37 0 0 1 0 0 MRGPRF 116535 broad.mit.edu 37 11 68773019 68773019 + Missense_Mutation SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:68773019G>C ENST00000309099.6 - 3 1141 c.759C>G c.(757-759)atC>atG p.I253M MRGPRF_ENST00000441623.1_Missense_Mutation_p.I253M NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 253 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCCCTAAGTAGATGGAGGACA 0.617000 6 4 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135587397 135587397 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr5:135587397C>T ENST00000513104.1 - 6 1801 c.1519G>A c.(1519-1521)Gtg>Atg p.V507M TRPC7_ENST00000426057.2_Missense_Mutation_p.V391M|TRPC7_ENST00000355180.3_Missense_Mutation_p.V446M NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 507 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCGTCCTGCACGTGCTGGTCC 0.582000 18 18 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67571810 67571810 + Missense_Mutation SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr15:67571810G>T ENST00000335894.4 + 4 413 c.347G>T c.(346-348)aGa>aTa p.R116I IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Missense_Mutation_p.R116I NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 116 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CAACCCCAAAGACAGCACAGT 0.403000 23 54 3.01185e-09 3.32889e-09 1 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118350685 118350685 + Missense_Mutation SNP C C A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr10:118350685C>A ENST00000528052.1 + 2 115 c.44C>A c.(43-45)gCc>gAc p.A15D PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A15D|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A15D|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.A15D P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 15 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) CTGGGAGCAGCCAAAGGTAAG 0.498000 7 18 0.00621372 0.00647048 1 1 0 IRX1 79192 broad.mit.edu 37 5 3600193 3600193 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr5:3600193C>T ENST00000302006.3 + 2 1183 c.1131C>T c.(1129-1131)agC>agT p.S377S CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 377 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GGACCAACAGCGCATTCCTCG 0.682000 18 57 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916836 178916836 + Missense_Mutation SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr3:178916836C>G ENST00000263967.3 + 2 380 c.223C>G c.(223-225)Caa>Gaa p.Q75E NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 75 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q75E(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAGTGTTACTCAAGAAGCAGA 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 49 104 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37879658 37879658 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr17:37879658G>A ENST00000406381.2 + 19 2453 c.1943G>A c.(1942-1944)cGg>cAg p.R648Q ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R678Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 678 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ATCAAGCGACGGCAGCAGAAG 0.637000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 52 74 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117628125 117628125 + Missense_Mutation SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:117628125G>C ENST00000427718.2 - 1 211 c.137C>G c.(136-138)tCg>tGg p.S46W FBXO21_ENST00000330622.5_Missense_Mutation_p.S46W NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 46 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GGCCGTCAGCGAGCCGCAGCA 0.716000 11 83 0 0 1 0 0 NDUFS7 374291 broad.mit.edu 37 19 1388566 1388566 + Missense_Mutation SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:1388566G>C ENST00000313408.7 + 3 119 c.96G>C c.(94-96)caG>caC p.Q32H NDUFS7_ENST00000233627.9_Missense_Mutation_p.Q32H|NDUFS7_ENST00000414651.2_Missense_Mutation_p.Q32H|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000539480.1_Missense_Mutation_p.Q32H|NDUFS7_ENST00000546283.1_Missense_Mutation_p.Q32H O75251 NDUS7_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 32 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding ovary(1) 1 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) 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) NADH(DB00157) GTGTCCATCAGAGCGTGGCCA 0.672000 15 26 0 0 1 0 0 CPSF4 10898 broad.mit.edu 37 7 99042455 99042455 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr7:99042455C>T ENST00000436336.2 + 2 308 c.147C>T c.(145-147)tgC>tgT p.C49C CPSF4_ENST00000292476.5_Silent_p.C49C|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Silent_p.C49C|CPSF4_ENST00000471455.1_3'UTR|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_5'UTR NM_001081559.1|NM_006693.2 NP_001075028.1|NP_006684.1 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 30kDa 49 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5) 14 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAGCTGCCTGCGGCAAAGGTA 0.547000 108 111 0 0 1 0 0 RSC1A1 6248 broad.mit.edu 37 1 15986664 15986664 + Missense_Mutation SNP T T C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:15986664T>C ENST00000345034.1 + 1 301 c.301T>C c.(301-303)Tcc>Ccc p.S101P DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 101 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCAGAATTCATCCGAAGAAAT 0.423000 5 163 0 0 1 0 0 ARMC2 84071 broad.mit.edu 37 6 109282854 109282854 + Silent SNP G G C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr6:109282854G>C ENST00000392644.4 + 14 2163 c.1995G>C c.(1993-1995)gtG>gtC p.V665V ARMC2_ENST00000368972.3_Silent_p.V500V|ARMC2_ENST00000481850.1_3'UTR NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 665 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) ACTACCAAGTGAAGAATTCCA 0.338000 37 50 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109840170 109840170 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:109840170G>A ENST00000357155.1 - 3 353 c.304C>T c.(304-306)Cgg>Tgg p.R102W MYBPHL_ENST00000477962.1_Intron NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 102 Ig-like C2-type 1. central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) TCCCCATTCCGCACACTCACA 0.592000 4 97 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39306848 39306848 + Silent SNP T T G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr5:39306848T>G ENST00000263408.4 - 9 1382 c.1287A>C c.(1285-1287)atA>atC p.I429I NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 429 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTCCACCTCTTATGAGTGAAA 0.398000 26 88 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138199923 138199923 + Silent SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr6:138199923G>A ENST00000237289.4 + 7 1407 c.1341G>A c.(1339-1341)gcG>gcA p.A447A NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 447 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.A447A(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AGCCCTTGGCGTGGAACCCTG 0.627000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 31 42 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3547922 3547922 + Missense_Mutation SNP G G T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:3547922G>T ENST00000355415.2 - 4 930 c.761C>A c.(760-762)aCc>aAc p.T254N MFSD12_ENST00000389395.3_Missense_Mutation_p.T254N|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.T254N|MFSD12_ENST00000591878.1_5'UTR NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 254 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 CAACAGGGGGGTGTGCTCGCC 0.711000 12 15 2.27111e-07 2.44581e-07 1 1 0 UTP14A 10813 broad.mit.edu 37 X 129045885 129045885 + Silent SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chrX:129045885C>G ENST00000394422.3 + 6 553 c.525C>G c.(523-525)ctC>ctG p.L175L RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371051.5_Silent_p.L121L NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 175 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 AACATGTGCTCAGTGGCTGGA 0.473000 36 7 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151334925 151334925 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr6:151334925G>A ENST00000367321.3 + 22 2550 c.2276G>A c.(2275-2277)gGt>gAt p.G759D NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 759 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GTAACGGCTGGTGTTCCTCTT 0.363000 5 10 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118350686 118350686 + Silent SNP C C A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr10:118350686C>A ENST00000528052.1 + 2 116 c.45C>A c.(43-45)gcC>gcA p.A15A PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Silent_p.A15A|PNLIPRP1_ENST00000358834.4_Silent_p.A15A|PNLIPRP1_ENST00000442761.1_Silent_p.A15A P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 15 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) TGGGAGCAGCCAAAGGTAAGA 0.498000 7 18 0.00621372 0.00647048 1 1 0 ACSL1 2180 broad.mit.edu 37 4 185684403 185684403 + Missense_Mutation SNP A A G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr4:185684403A>G ENST00000515030.1 - 16 1764 c.1439T>C c.(1438-1440)gTt>gCt p.V480A ACSL1_ENST00000437665.3_Missense_Mutation_p.V309A|ACSL1_ENST00000454703.2_Missense_Mutation_p.V309A|ACSL1_ENST00000507295.1_Missense_Mutation_p.V446A|ACSL1_ENST00000513317.1_Missense_Mutation_p.V480A|ACSL1_ENST00000281455.2_Missense_Mutation_p.V480A|ACSL1_ENST00000504342.1_Missense_Mutation_p.V480A P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 480 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGGGGCCCCAACATGGCCTGT 0.433000 11 17 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42455873 42455873 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr17:42455873C>T ENST00000262407.5 - 20 1982 c.1951G>A c.(1951-1953)Ggc>Agc p.G651S ITGA2B_ENST00000353281.4_Missense_Mutation_p.G651S NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 651 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) AGCGGGGAGCCCGTCCTGTGG 0.617000 19 20 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145763117 145763117 + Missense_Mutation SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr8:145763117C>G ENST00000377307.2 - 6 2686 c.2602G>C c.(2602-2604)Gaa>Caa p.E868Q ARHGAP39_ENST00000540274.1_Intron|ARHGAP39_ENST00000276826.5_Intron NM_025251.1 NP_079527.1 Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 840 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TCCGGCTCTTCAACATAAGGC 0.557000 48 209 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73731974 73731974 + Missense_Mutation SNP C C T rs142367137 TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr7:73731974C>T ENST00000223398.6 + 2 425 c.98C>T c.(97-99)gCg>gTg p.A33V CLIP2_ENST00000361545.5_Missense_Mutation_p.A33V|CLIP2_ENST00000395060.1_Missense_Mutation_p.A33V NM_003388.4 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 33 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 TCCTCGGCGGCGGTGGCCGCT 0.657000 81 158 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31737642 31737642 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr22:31737642G>A ENST00000215919.3 - 3 1536 c.1363C>T c.(1363-1365)Ccg>Tcg p.P455S PATZ1_ENST00000266269.5_Intron|PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron NM_032051.1 NP_114440.1 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 0 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 TCCAGGGGCGGCAGGCCGCTG 0.642000 4 94 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65918060 65918060 + Nonsense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr15:65918060C>T ENST00000261892.6 + 2 1929 c.1642C>T c.(1642-1644)Cga>Tga p.R548* SLC24A1_ENST00000546330.1_Nonsense_Mutation_p.R548*|SLC24A1_ENST00000544319.2_Nonsense_Mutation_p.R548*|SLC24A1_ENST00000537259.1_Nonsense_Mutation_p.R548*|SLC24A1_ENST00000399033.4_Nonsense_Mutation_p.R548*|SLC24A1_ENST00000339868.6_Nonsense_Mutation_p.R548* NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 548 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCTCTTCTCCCGAGAGATCCT 0.502000 68 121 0 0 1 0 0 KBTBD11 9920 broad.mit.edu 37 8 1950616 1950616 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr8:1950616G>A ENST00000320248.3 + 2 2224 c.1258G>A c.(1258-1260)Gag>Aag p.E420K NM_014867.2 NP_055682.1 O94819 KBTBB_HUMAN kelch repeat and BTB (POZ) domain containing 11 420 lung(1)|pancreas(1) 2 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134) CGTGGGCGGCGAGTGCCTGCT 0.786000 6 4 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116857341 116857341 + Nonsense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr9:116857341G>A ENST00000374118.3 - 8 904 c.667C>T c.(667-669)Cga>Tga p.R223* KIF12_ENST00000473174.1_5'UTR NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 356 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CGCTGAGCTCGGCTTGCATAT 0.652000 32 41 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111848509 111848509 + Nonsense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:111848509C>T ENST00000315253.5 + 1 477 c.13C>T c.(13-15)Caa>Taa p.Q5* DIXDC1_ENST00000389821.4_Intron|DIXDC1_ENST00000440460.2_Intron NM_033425.3 NP_219493.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 0 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) GGGAGGGACGCAAGTCAAATG 0.632000 3 6 0 0 1 0 0 VGLL2 245806 broad.mit.edu 37 6 117591920 117591920 + Silent SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr6:117591920G>A ENST00000326274.5 + 3 796 c.606G>A c.(604-606)gcG>gcA p.A202A VGLL2_ENST00000352536.3_Intron NM_182645.3 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 202 transcription, DNA-dependent nucleus central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) CGCACCACGCGCACCCGCATC 0.786000 10 8 0 0 1 0 0 KREMEN1 83999 broad.mit.edu 37 22 29533554 29533554 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr22:29533554G>A ENST00000400338.2 + 6 909 c.856G>A c.(856-858)Ggg>Agg p.G286R KREMEN1_ENST00000327813.5_Missense_Mutation_p.G286R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.G286R|KREMEN1_ENST00000407188.1_Missense_Mutation_p.G284R Q96MU8 KREM1_HUMAN kringle containing transmembrane protein 1 284 CUB. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding p.G286R(1) breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 CCGCTTCCACGGGAGGAGCCG 0.552000 38 36 0 0 1 0 0 PLIN5 440503 broad.mit.edu 37 19 4523754 4523754 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr19:4523754G>A ENST00000381848.3 - 8 1258 c.1178C>T c.(1177-1179)gCg>gTg p.A393V NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 393 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CACCAGGTCCGCCAGGTCGGG 0.736000 4 135 0 0 1 0 0 FAM118B 79607 broad.mit.edu 37 11 126120483 126120483 + Missense_Mutation SNP C C G TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:126120483C>G ENST00000533050.1 + 5 915 c.422C>G c.(421-423)tCt>tGt p.S141C FAM118B_ENST00000360194.4_Missense_Mutation_p.S141C|FAM118B_ENST00000529731.1_Intron|FAM118B_ENST00000525728.1_3'UTR NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B 141 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) ATGGAAGATTCTGGAAAACAG 0.388000 28 45 0 0 1 0 0 CBLN4 140689 broad.mit.edu 37 20 54579155 54579155 + Missense_Mutation SNP C C A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr20:54579155C>A ENST00000064571.2 - 1 1373 c.73G>T c.(73-75)Gtc>Ttc p.V25F NM_080617.5 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 25 cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) TGTGCCCAGACGGGCAGCCCC 0.721000 17 20 3.45872e-05 3.69321e-05 1 1 0 CCT6P3 643180 broad.mit.edu 37 7 64534215 64534215 + RNA SNP C C A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr7:64534215C>A ENST00000426828.1 + 0 1362 NR_033416.1 AATGTCTTCTCTGAAAGGTTG 0.408000 31 2 9.04072e-19 1.03557e-18 1 1 0 KCNC2 3747 broad.mit.edu 37 12 75444305 75444305 + Missense_Mutation SNP T T C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:75444305T>C ENST00000549446.1 - 3 2160 c.1480A>G c.(1480-1482)Aag>Gag p.K494E KCNC2_ENST00000350228.2_Missense_Mutation_p.K494E|KCNC2_ENST00000550433.1_Missense_Mutation_p.K494E|KCNC2_ENST00000540018.1_Missense_Mutation_p.K494E|KCNC2_ENST00000393288.2_Missense_Mutation_p.K494E|KCNC2_ENST00000341669.3_Missense_Mutation_p.K494E|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000548513.1_Missense_Mutation_p.K494E|KCNC2_ENST00000298972.1_Missense_Mutation_p.K494E NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 494 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 ATGTGCTTCTTTCTTTTCCTT 0.448000 33 9 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982324 57982324 + Silent SNP T T C TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr11:57982324T>C ENST00000309433.6 + 1 108 c.108T>C c.(106-108)caT>caC p.H36H NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) AGGATGAGCATCAAAACCTCC 0.433000 57 77 0 0 1 0 0 CCNG2 901 broad.mit.edu 37 4 78082847 78082847 + Missense_Mutation SNP T T A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr4:78082847T>A ENST00000316355.5 + 6 1008 c.652T>A c.(652-654)Ttg>Atg p.L218M CCNG2_ENST00000354403.5_Missense_Mutation_p.L218M|CCNG2_ENST00000509972.1_Missense_Mutation_p.L218M|CCNG2_ENST00000395640.1_Missense_Mutation_p.L218M|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Missense_Mutation_p.L218M NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 218 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 AGTGGAAACTTTGAAATCTGT 0.274000 14 19 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20444339 20444339 + Silent SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr7:20444339C>T ENST00000222573.4 + 11 2460 c.1776C>T c.(1774-1776)caC>caT p.H592H ITGB8_ENST00000537992.1_Silent_p.H457H NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CAGCCCAGCACTGTGTCAATT 0.572000 25 28 0 0 1 0 0 GPC1 2817 broad.mit.edu 37 2 241404342 241404342 + Missense_Mutation SNP G G A TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr2:241404342G>A ENST00000264039.2 + 6 1332 c.1084G>A c.(1084-1086)Ggc>Agc p.G362S NM_002081.2 NP_002072.2 P35052 GPC1_HUMAN glypican 1 362 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) GCGGCGCCGGGGCAAGCTGGC 0.697000 4 0 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141248274 141248274 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr5:141248274C>T ENST00000287008.3 - 2 910 c.763G>A c.(763-765)Ggc>Agc p.G255S PCDH1_ENST00000536585.1_Missense_Mutation_p.G233S|PCDH1_ENST00000456271.1_Missense_Mutation_p.G243S|PCDH1_ENST00000503492.1_Missense_Mutation_p.G255S|PCDH1_ENST00000394536.3_Missense_Mutation_p.G255S NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 255 Cadherin 2. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGGCTGCCGCCATCCTGCACC 0.627000 35 26 0 0 1 0 0 ZNF319 57567 broad.mit.edu 37 16 58031995 58031995 + Missense_Mutation SNP C C T TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr16:58031995C>T ENST00000299237.2 - 2 797 c.175G>A c.(175-177)Ggc>Agc p.G59S NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 59 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 GGCTGCAGGCCGGGGTCTGGC 0.697000 25 46 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160068207 160068209 + In_Frame_Del DEL AGC AGC - TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr1:160068207_160068209delAGC ENST00000368086.1 - 1 270_272 c.54_56delGCT c.(52-57)ctgcta>cta p.18_19LL>L IGSF8_ENST00000314485.7_In_Frame_Del_p.18_19LL>L Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 18 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ACCTAGCATTagcagcagcagca 0.709 2 4 --- --- --- --- LINC00570 100874055 broad.mit.edu 37 2 11542812 11542814 + RNA DEL CCA CCA - TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr2:11542812_11542814delCCA ENST00000417473.2 + 0 939_941 NR_047499.1 gccatcaccgccaccaccaccac 0.586 2 4 --- --- --- --- LOC442028 442028 broad.mit.edu 37 2 95552667 95552669 + RNA DEL CTC CTC - TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr2:95552667_95552669delCTC ENST00000568768.1 - 0 476 GAAGGTCTGACTCCTCATGTATC 0.369 13 23 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-CF-A5UA-01A-11D-A289-08 TCGA-CF-A5UA-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e822a8e-36da-45bf-a4fa-71a85e615a97 f7f29a52-4414-4605-9fab-e4df5f4d2a08 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)aagdel p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 7 138 --- --- --- ---