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 MXRA5 25878 broad.mit.edu 37 X 3238689 3238689 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:3238689G>A ENST00000217939.6 - 5 5191 c.5037C>T c.(5035-5037)tcC>tcT p.S1679S NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1679 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGCTGGGTTTGGACATGTGCA 0.418000 69 63 0 0 0.014410 0 0 LAMB4 22798 broad.mit.edu 37 7 107703417 107703417 + Silent SNP G G A rs151001135 by1000genomes TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:107703417G>A ENST00000388781.3 - 23 3167 c.3084C>T c.(3082-3084)ggC>ggT p.G1028G LAMB4_ENST00000205386.4_Silent_p.G1028G|LAMB4_ENST00000388780.3_Silent_p.G1028G NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1028 Laminin EGF-like 11. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGGGACTCACGCCGGAAGCAT 0.517000 14 22 0 0 0.004007 0 0 NPC1L1 29881 broad.mit.edu 37 7 44574088 44574088 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:44574088G>A ENST00000289547.4 - 6 2179 c.2124C>T c.(2122-2124)tcC>tcT p.S708S NPC1L1_ENST00000423141.1_Silent_p.S708S|NPC1L1_ENST00000381160.3_Silent_p.S708S|NPC1L1_ENST00000546276.1_Silent_p.S708S NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 708 SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding p.S708S(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CAGCCCCCACGGACAGCACCA 0.562000 OREG0018038 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 80 0 0 0.006320 0 0 DCAF13 25879 broad.mit.edu 37 8 104427556 104427556 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:104427556C>T ENST00000297579.5 + 1 615 c.338C>T c.(337-339)tCc>tTc p.S113F NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GGCCGCCGCTCCGCGAGTCAC 0.637000 21 74 0 0 0.014323 0 0 SELE 6401 broad.mit.edu 37 1 169695858 169695858 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:169695858G>A ENST00000333360.7 - 11 1874 c.1735C>T c.(1735-1737)Cgg>Tgg p.R579W SELE_ENST00000367779.4_Missense_Mutation_p.R453W|SELE_ENST00000367782.4_Missense_Mutation_p.R516W|SELE_ENST00000367777.1_Missense_Mutation_p.R516W|SELE_ENST00000367776.1_Missense_Mutation_p.R516W|SELE_ENST00000367775.1_Missense_Mutation_p.R454W|SELE_ENST00000367774.1_Missense_Mutation_p.R453W|SELE_ENST00000367781.4_Missense_Mutation_p.R516W|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.R454W NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 579 actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) AAGCATTTCCGAAGCCAGAGG 0.418000 7 48 0 0 0.003080 0 0 C6orf15 29113 broad.mit.edu 37 6 31079719 31079719 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:31079719G>A ENST00000259870.3 - 2 420 c.417C>T c.(415-417)tcC>tcT p.S139S NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 139 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 CCGCAGCACTGGAGAGGTAAG 0.642000 15 57 0 0 0.004990 0 0 SHBG 6462 broad.mit.edu 37 17 7535262 7535262 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7535262G>A ENST00000380450.4 + 6 812 c.781G>A c.(781-783)Ggc>Agc p.G261S SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Missense_Mutation_p.G261S|SHBG_ENST00000575314.1_Missense_Mutation_p.G203S|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000576728.1_Missense_Mutation_p.G149S|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.G149S|SHBG_ENST00000574539.1_Missense_Mutation_p.G203S|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000340624.5_Missense_Mutation_p.G203S|SHBG_ENST00000575903.1_Missense_Mutation_p.G243S NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 261 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) GCAGGCAGCAGGCTCAGGCCA 0.567000 45 180 0 0 0.014410 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192441 133192441 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:133192441C>T ENST00000388996.4 - 4 1160 c.740G>A c.(739-741)tGg>tAg p.W247* KCNQ3_ENST00000519445.1_Nonsense_Mutation_p.W247*|KCNQ3_ENST00000521134.1_Nonsense_Mutation_p.W127* NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 247 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.W247*(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CAGAAGCTTCCAGGTGCCACC 0.597000 17 81 0 0 0.006122 0 0 WFDC8 90199 broad.mit.edu 37 20 44181907 44181907 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:44181907C>T ENST00000357199.4 - 5 532 c.454G>A c.(454-456)Gga>Aga p.G152R WFDC8_ENST00000289953.2_Missense_Mutation_p.G152R NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 152 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GGGCATTGTCCATCCTTAACT 0.468000 7 30 0 0 0.004482 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430723 37430723 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:37430723G>A ENST00000374660.1 + 7 829 c.730G>A c.(730-732)Gaa>Aaa p.E244K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E244K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E244K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 300 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.E244K(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGCTTGGTGGAAAAAACACC 0.507000 17 21 0 0 0.004007 0 0 ZNF438 220929 broad.mit.edu 37 10 31138347 31138347 + Missense_Mutation SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:31138347T>C ENST00000538351.1 - 7 1594 c.840A>G c.(838-840)atA>atG p.I280M ZNF438_ENST00000444692.2_Missense_Mutation_p.I319M|ZNF438_ENST00000452305.1_Missense_Mutation_p.I319M|ZNF438_ENST00000375311.1_De_novo_Start_InFrame|ZNF438_ENST00000361310.3_Missense_Mutation_p.I329M|ZNF438_ENST00000436087.2_Missense_Mutation_p.I329M|ZNF438_ENST00000331737.6_Missense_Mutation_p.I319M|ZNF438_ENST00000413025.1_Missense_Mutation_p.I329M|ZNF438_ENST00000442986.1_Missense_Mutation_p.I329M NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TGGTGGAGGGTATCTTATCAC 0.463000 21 25 0 0 0.010504 0 0 MAP2K1 5604 broad.mit.edu 37 15 66774131 66774131 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:66774131G>A ENST00000307102.5 + 6 1138 c.607G>A c.(607-609)Gag>Aag p.E203K MAP2K1_ENST00000566326.1_Missense_Mutation_p.E27K NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 203 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E203K(4) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CTCCCGTGGGGAGATCAAGCT 0.522000 17 56 0 0 0.004990 0 0 SLC44A5 204962 broad.mit.edu 37 1 75707690 75707690 + Silent SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:75707690T>C ENST00000370855.5 - 9 641 c.528A>G c.(526-528)aaA>aaG p.K176K SLC44A5_ENST00000370859.3_Silent_p.K176K|SLC44A5_ENST00000535611.1_Silent_p.K46K NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 176 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ACTTACAAGGTTTGCTGGGAA 0.378000 18 44 0 0 0.010504 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514709 233514709 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:233514709G>A ENST00000366624.3 + 9 2218 c.1957G>A c.(1957-1959)Gga>Aga p.G653R MLK4_ENST00000366622.1_Missense_Mutation_p.G99R NM_032435.2 NP_115811.2 TTCCCCTGATGGATTAGAACA 0.378000 31 46 0 0 0.003755 0 0 SLC22A16 85413 broad.mit.edu 37 6 110759972 110759972 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:110759972G>A ENST00000368919.3 - 5 1328 c.1262C>T c.(1261-1263)tCt>tTt p.S421F SLC22A16_ENST00000439654.1_Missense_Mutation_p.S421F|SLC22A16_ENST00000330550.4_Missense_Mutation_p.S387F NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 421 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GCAGAAAAGAGAGTAGGCCAG 0.498000 16 52 0 0 0.004990 0 0 SH3TC2 79628 broad.mit.edu 37 5 148384390 148384390 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:148384390C>T ENST00000515425.1 - 17 3852 c.3751G>A c.(3751-3753)Gac>Aac p.D1251N SH3TC2_ENST00000502274.1_Missense_Mutation_p.D113N|SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.D1244N NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1251 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAATGGTGTCCTGAAGCTCC 0.632000 19 38 0 0 0.007413 0 0 SCN1A 6323 broad.mit.edu 37 2 166892848 166892848 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:166892848C>T ENST00000423058.2 - 16 3156 c.3139G>A c.(3139-3141)Gaa>Aaa p.E1047K AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1047K|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1019K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1036K NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1047 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGTTTAATTTCATCTAAAATC 0.308000 13 25 0 0 0.013537 0 0 ASB15 142685 broad.mit.edu 37 7 123269101 123269101 + Missense_Mutation SNP G G C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:123269101G>C ENST00000451558.1 + 12 1574 c.1053G>C c.(1051-1053)aaG>aaC p.K351N ASB15_ENST00000451215.1_Missense_Mutation_p.K351N|ASB15_ENST00000434204.1_Missense_Mutation_p.K351N|ASB15_ENST00000275699.3_Missense_Mutation_p.K351N|ASB15_ENST00000540573.1_Missense_Mutation_p.K351N Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 351 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 ATGAGAGGAAGACTGCGCTGT 0.448000 22 67 0 0 0.002780 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6051554 6051554 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:6051554C>T ENST00000409021.3 - 15 2403 c.1954G>A c.(1954-1956)Gat>Aat p.D652N JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D467N NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 425 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCCCGTTATCGCCAAGGATA 0.378000 11 30 0 0 0.010729 0 0 TBX21 30009 broad.mit.edu 37 17 45822322 45822322 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:45822322C>T ENST00000177694.1 + 6 1409 c.1198C>T c.(1198-1200)Cga>Tga p.R400* NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 400 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R400*(1) NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 GGCTGAGTTTCGAGCAGTCAG 0.652000 26 76 0 0 0.004656 0 0 PTPRT 11122 broad.mit.edu 37 20 40979339 40979339 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:40979339G>A ENST00000373198.3 - 11 2029 c.1794C>T c.(1792-1794)acC>acT p.T598T PTPRT_ENST00000373184.1_Silent_p.T598T|PTPRT_ENST00000373187.1_Silent_p.T598T|PTPRT_ENST00000373190.1_Silent_p.T598T|PTPRT_ENST00000356100.2_Silent_p.T598T|PTPRT_ENST00000373201.1_Silent_p.T598T|PTPRT_ENST00000373193.3_Silent_p.T598T NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 598 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CATTCAATGGGGTGTCTGTGT 0.567000 18 76 0 0 0.004990 0 0 SCN10A 6336 broad.mit.edu 37 3 38750978 38750978 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:38750978C>T ENST00000449082.2 - 24 4271 c.4272G>A c.(4270-4272)caG>caA p.Q1424Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1424 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCTTTTTTTTCTGTTGATTGA 0.413000 13 60 0 0 0.001855 0 0 DNAH7 56171 broad.mit.edu 37 2 196729430 196729430 + Nonsense_Mutation SNP G G A rs115474479 by1000genomes TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:196729430G>A ENST00000312428.6 - 41 7049 c.6949C>T c.(6949-6951)Cga>Tga p.R2317* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2317 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R2317*(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATGGCAAATCGAAACAAGACA 0.443000 17 61 0 0 0.004007 0 0 LY9 4063 broad.mit.edu 37 1 160788007 160788007 + Splice_Site SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:160788007G>A ENST00000263285.5 + 6 1372 c.e6-1 LY9_ENST00000368041.2_Splice_Site|LY9_ENST00000368040.1_Splice_Site|LY9_ENST00000341032.4_Splice_Site|LY9_ENST00000368035.1_Splice_Site NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCTCCTCAAAGGACCTGAGAG 0.448000 6 45 0 0 0.001168 0 0 COL6A3 1293 broad.mit.edu 37 2 238249666 238249666 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:238249666G>A ENST00000295550.4 - 38 8345 c.7893C>T c.(7891-7893)acC>acT p.T2631T COL6A3_ENST00000353578.4_Silent_p.T2425T|COL6A3_ENST00000409809.1_Silent_p.T2425T|COL6A3_ENST00000472056.1_Silent_p.T2024T|COL6A3_ENST00000347401.3_Silent_p.T2430T|COL6A3_ENST00000346358.4_Silent_p.T2431T NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2631 Nonhelical region.|VWFA 12. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACTGGAACAGGGTGGTGGTCT 0.552000 44 115 0 0 0.010771 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95484639 95484639 + RNA SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:95484639C>T ENST00000432432.2 - 0 1295 NR_040113.1 TGTATTTTTTCACTTTTGTTT 0.279000 9 25 0 0 0.006214 0 0 FOXM1 2305 broad.mit.edu 37 12 2968800 2968800 + Silent SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:2968800A>G ENST00000342628.2 - 10 1523 c.1410T>C c.(1408-1410)ccT>ccC p.P470P ITFG2_ENST00000545509.1_3'UTR|FOXM1_ENST00000361953.3_Silent_p.P417P|FOXM1_ENST00000359843.3_Silent_p.P432P NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 432 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CAGAAGAAAGAGGAGCTATCC 0.488000 7 16 0 0 0.001984 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906573 13906573 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:13906573G>A ENST00000279593.3 - 3 897 c.688C>T c.(688-690)Ctt>Ttt p.L230F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 230 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTACAGTAAAGAAGAATGATG 0.512000 12 92 0 0 0.010729 0 0 BRDT 676 broad.mit.edu 37 1 92445135 92445135 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:92445135G>A ENST00000370389.2 + 8 1813 c.889G>A c.(889-891)Gaa>Aaa p.E297K BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.E370K|BRDT_ENST00000394530.3_Missense_Mutation_p.E324K|BRDT_ENST00000402388.1_Missense_Mutation_p.E370K|BRDT_ENST00000362005.3_Missense_Mutation_p.E370K NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 370 Bromo 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GGATGTTTTCGAAACGCATTT 0.323000 7 23 0 0 0.001984 0 0 MST1R 4486 broad.mit.edu 37 3 49933251 49933251 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:49933251G>A ENST00000296474.3 - 12 2886 c.2859C>T c.(2857-2859)gtC>gtT p.V953V MST1R_ENST00000344206.4_Silent_p.V904V NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 953 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGCTCTGTGGGACCCCATCTG 0.622000 10 48 0 0 0.008291 0 0 LILRA1 11024 broad.mit.edu 37 19 55106174 55106174 + Missense_Mutation SNP A A C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:55106174A>C ENST00000453777.1 + 4 285 c.115A>C c.(115-117)Atc>Ctc p.I39L LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.I39L|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 39 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AGGCTCTGTGATCACCCAGGG 0.547000 19 73 0 0 0.006122 0 0 OR5T3 390154 broad.mit.edu 37 11 56020497 56020497 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:56020497C>T ENST00000303059.3 + 1 822 c.822C>T c.(820-822)caC>caT p.H274H NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H274Q(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GTGGCTCTCACCTAACTGGAG 0.408000 26 111 0 0 0.003330 0 0 ADGRG6 57211 broad.mit.edu 37 6 142737023 142737023 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:142737023G>A ENST00000230173.6 + 20 3236 c.2760G>A c.(2758-2760)tgG>tgA p.W920* GPR126_ENST00000367608.2_Nonsense_Mutation_p.W892*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.W892*|GPR126_ENST00000367609.3_Nonsense_Mutation_p.W920* NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 920 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TAGATGGCTGGATCACCTCCT 0.468000 35 121 0 0 0.013726 0 0 COL8A2 1296 broad.mit.edu 37 1 36564573 36564573 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:36564573C>T ENST00000397799.1 - 4 933 c.709G>A c.(709-711)Ggc>Agc p.G237S COL8A2_ENST00000303143.4_Missense_Mutation_p.G237S|COL8A2_ENST00000481785.1_Missense_Mutation_p.G172S P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 237 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAGGTTTGCCTAAGCCAGCT 0.716000 13 27 0 0 0.001855 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661743 22661743 + RNA SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr22:22661743C>T ENST00000426066.1 + 0 500 NR_027293.1 TCATAAAATTCCACTCCTAAG 0.343000 6 3 0 0 0.001984 0 0 MORC1 27136 broad.mit.edu 37 3 108819355 108819355 + Splice_Site SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:108819355C>T ENST00000232603.5 - 5 306 c.e5-1 MORC1_ENST00000483760.1_Splice_Site NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GAAGCTTCCTCTGTAATTGAC 0.443000 16 50 0 0 0.003163 0 0 PEG3 5178 broad.mit.edu 37 19 57328594 57328594 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:57328594C>T ENST00000326441.9 - 10 1579 c.1216G>A c.(1216-1218)Gat>Aat p.D406N PEG3_ENST00000593695.1_Missense_Mutation_p.D280N|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D406N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D282N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 406 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTTTTTGATCGTGAATCGAG 0.488000 28 105 0 0 0.007291 0 0 EEF1D 1936 broad.mit.edu 37 8 144671343 144671343 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:144671343G>A ENST00000532741.1 - 1 1287 c.1059C>T c.(1057-1059)ccC>ccT p.P353P EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Silent_p.P303P|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000442189.2_Silent_p.P303P P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) AGTAACAGTAGGGCAAGGCAG 0.716000 12 37 0 0 0.010729 0 0 SH2D5 400745 broad.mit.edu 37 1 21050225 21050225 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:21050225G>A ENST00000375031.1 - 7 1174 c.550C>T c.(550-552)Cct>Tct p.P184S SH2D5_ENST00000444387.2_Missense_Mutation_p.P268S|SH2D5_ENST00000460804.1_5'UTR NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 184 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CATGCGGCAGGAACTGTGGAG 0.672000 10 27 0 0 0.006214 0 0 GNPAT 8443 broad.mit.edu 37 1 231402070 231402070 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:231402070C>T ENST00000366647.4 + 8 1141 c.972C>T c.(970-972)atC>atT p.I324I GNPAT_ENST00000366646.3_Silent_p.I263I NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 324 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTGGAAGCATCCATGTGTACT 0.428000 23 44 0 0 0.002780 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168930 142168930 + RNA SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:142168930C>T ENST00000454561.2 - 0 115 CCTTGATTTTCCTAATAGGAG 0.572000 5 13 0 0 0.000602 0 0 ACTRT1 139741 broad.mit.edu 37 X 127186130 127186130 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:127186130C>T ENST00000371124.3 - 1 252 c.56G>A c.(55-57)gGa>gAa p.G19E NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 19 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TTTGCAGAGTCCTGAACCATT 0.428000 13 14 0 0 0.003163 0 0 DAGLA 747 broad.mit.edu 37 11 61503210 61503210 + Splice_Site SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:61503210G>A ENST00000257215.5 + 12 1328 c.e12-1 NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CTCTCCCCAAGGATGCCCTGA 0.677000 4 16 0 0 0.009096 0 0 TMEM102 284114 broad.mit.edu 37 17 7339604 7339604 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7339604G>A ENST00000323206.1 + 3 579 c.306G>A c.(304-306)ggG>ggA p.G102G TMEM102_ENST00000396568.1_Silent_p.G102G|RP11-104H15.7_ENST00000575310.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 102 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) TGGATCTGGGGCATGCACCCC 0.607000 15 55 0 0 0.003163 0 0 CNGA2 1260 broad.mit.edu 37 X 150912780 150912780 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:150912780G>A ENST00000329903.4 + 6 1838 c.1805G>A c.(1804-1806)gGg>gAg p.G602E NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 602 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GAGAAGCTAGGGCAGCTGGAG 0.582000 36 37 0 0 0.003755 0 0 PTCHD2 57540 broad.mit.edu 37 1 11591711 11591711 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:11591711G>A ENST00000294484.6 + 17 3457 c.3319G>A c.(3319-3321)Ggg>Agg p.G1107R PTCHD2_ENST00000389575.3_Missense_Mutation_p.G1107R NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1107 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTGTCCCACGGGGCAGTGGG 0.662000 17 63 0 0 0.004990 0 0 CHMP7 91782 broad.mit.edu 37 8 23117720 23117720 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:23117720C>T ENST00000397677.1 + 10 1832 c.1184C>T c.(1183-1185)cCt>cTt p.P395L CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.P395L NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 395 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) ACCAAAGAACCTTTGGATCTG 0.438000 16 74 0 0 0.007413 0 0 TC2N 123036 broad.mit.edu 37 14 92251698 92251698 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:92251698G>A ENST00000435962.2 - 11 1493 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TC2N_ENST00000340892.5_Silent_p.F390F|TC2N_ENST00000360594.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 390 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCACCTTCACGAAAAAACCTA 0.323000 43 119 0 0 0.008740 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724182 140724182 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:140724182G>A ENST00000253812.6 + 1 582 c.582G>A c.(580-582)ctG>ctA p.L194L PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCAGAGCTGGTGCTGGAGC 0.537000 27 49 0 0 0.004656 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688664 81688664 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:81688664G>A ENST00000550584.2 - 23 3170 c.2875C>T c.(2875-2877)Cag>Tag p.Q959* PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.Q526*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.Q176*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.Q860*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.Q959*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.Q885*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.Q944*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.Q959*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.Q806*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.Q959*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.Q944* NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 885 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 ACCATCTCCTGGATTGCTAAT 0.473000 5 19 0 0 0.000602 0 0 BRINP3 339479 broad.mit.edu 37 1 190129815 190129815 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:190129815G>A ENST00000367462.3 - 7 1398 c.1167C>T c.(1165-1167)atC>atT p.I389I FAM5C_ENST00000534846.1_Silent_p.I287I|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 389 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTGGCAGGCTGATGAGGGGTT 0.378000 13 77 0 0 0.003163 0 0 SLC38A7 55238 broad.mit.edu 37 16 58712283 58712283 + Silent SNP G G A rs34881036 byFrequency TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:58712283G>A ENST00000570101.1 - 4 1448 c.565C>T c.(565-567)Ctg>Ttg p.L189L SLC38A7_ENST00000564100.1_Silent_p.L189L|SLC38A7_ENST00000219320.4_Silent_p.L189L|SLC38A7_ENST00000564010.1_Silent_p.L100L|SLC38A7_ENST00000566953.1_Intron Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 189 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 GAGAGGGGCAGGATGAAGAGG 0.577000 20 45 0 0 0.007413 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 34 136 2.42023e-17 3.03987e-17 0.003271 1 0 DSCAML1 57453 broad.mit.edu 37 11 117335778 117335778 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:117335778C>T ENST00000321322.6 - 17 3326 c.3325G>A c.(3325-3327)Gag>Aag p.E1109K DSCAML1_ENST00000527706.1_Missense_Mutation_p.E839K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1049 Fibronectin type-III 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGTAGACCTCGCTGTCCCCC 0.607000 43 96 0 0 0.011902 0 0 NDN 4692 broad.mit.edu 37 15 23931648 23931648 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:23931648G>A ENST00000331837.4 - 1 802 c.717C>T c.(715-717)ttC>ttT p.F239F NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 239 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding p.F239L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCATTTGGACGAACTCCTCAG 0.607000 Prader-Willi syndrome 9 47 0 0 0.006214 0 0 DSC2 1824 broad.mit.edu 37 18 28648154 28648154 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:28648154C>T ENST00000280904.6 - 16 2976 c.2533G>A c.(2533-2535)Gaa>Aaa p.E845K DSC2_ENST00000251081.6_3'UTR NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 845 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTGTGATTTTCATCTTGATTA 0.363000 7 44 0 0 0.004482 0 0 CACNA1B 774 broad.mit.edu 37 9 140953128 140953128 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:140953128C>T ENST00000277549.5 + 30 4573 c.2004C>T c.(2002-2004)ccC>ccT p.P668P CACNA1B_ENST00000371372.1_Silent_p.P1472P|CACNA1B_ENST00000371355.4_Silent_p.P1473P|CACNA1B_ENST00000371363.1_Silent_p.P1472P|CACNA1B_ENST00000371357.1_Silent_p.P1473P|CACNA1B_ENST00000277551.2_Silent_p.P1472P Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1472 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCTCCCCGCCCTTTGAATACT 0.567000 5 10 0 0 0.000602 0 0 ITGA8 8516 broad.mit.edu 37 10 15714738 15714738 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:15714738G>A ENST00000378076.3 - 7 1040 c.687C>T c.(685-687)atC>atT p.I229I NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 229 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CACTGGCAGTGATCACTTGTC 0.448000 9 37 0 0 0.004482 0 0 LAMA4 3910 broad.mit.edu 37 6 112460492 112460492 + Splice_Site SNP C C A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:112460492C>A ENST00000230538.7 - 24 3509 c.3110_splice c.e24-1 p.D1038_splice LAMA4_ENST00000522006.1_Splice_Site_p.D1031_splice|LAMA4_ENST00000389463.4_Splice_Site_p.D1031_splice|LAMA4_ENST00000424408.2_Splice_Site_p.D1031_splice NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1038 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GCCAGCTTATCTCTGAAATGG 0.458000 21 65 1.01871e-10 1.26807e-10 0.008871 1 0 MYH1 4619 broad.mit.edu 37 17 10399779 10399779 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:10399779C>T ENST00000226207.5 - 34 4838 c.4744G>A c.(4744-4746)Gaa>Aaa p.E1582K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1582 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCATCTTTTTCAGCAATTTTC 0.448000 39 101 0 0 0.007835 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 5605535 5605535 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrY:5605535C>T ENST00000215473.6 + 6 3575 c.3575C>T c.(3574-3576)cCt>cTt p.P1192L Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 1192 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TGCCACAGCCCTCCAGTGACA 0.587000 46 39 0 0 0.010771 0 0 THRSP 7069 broad.mit.edu 37 11 77775335 77775335 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:77775335G>A ENST00000281030.2 + 1 429 c.408G>A c.(406-408)agG>agA p.R136R NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron NM_003251.3 NP_003242.1 Q92748 THRSP_HUMAN thyroid hormone responsive 136 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) AGGTGACAAGGAAATACCAGG 0.542000 12 18 0 0 0.013537 0 0 RINT1 60561 broad.mit.edu 37 7 105205983 105205983 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:105205983C>T ENST00000257700.2 + 14 2305 c.2074C>T c.(2074-2076)Ctt>Ttt p.L692F EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000485614.1_3'UTR NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 692 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TCAGATAATTCTTGCTAATCA 0.358000 5 34 0 0 0.000602 0 0 OR6S1 341799 broad.mit.edu 37 14 21109703 21109703 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:21109703C>T ENST00000320704.3 - 1 147 c.148G>A c.(148-150)Gtg>Atg p.V50M NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) GCCCTTACCACCCCCACAATC 0.463000 19 90 0 0 0.006122 0 0 MMP26 56547 broad.mit.edu 37 11 5013262 5013262 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:5013262C>T ENST00000380390.1 + 6 880 c.664C>T c.(664-666)Cag>Tag p.Q222* MMP26_ENST00000300762.1_Nonsense_Mutation_p.Q222* Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 222 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CTCTGGGAATCAGAGCTCCAT 0.423000 7 35 0 0 0.003080 0 0 TMEM102 284114 broad.mit.edu 37 17 7339603 7339603 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7339603G>A ENST00000323206.1 + 3 578 c.305G>A c.(304-306)gGg>gAg p.G102E TMEM102_ENST00000396568.1_Missense_Mutation_p.G102E|RP11-104H15.7_ENST00000575310.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 102 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) CTGGATCTGGGGCATGCACCC 0.607000 16 56 0 0 0.004007 0 0 OR2D2 120776 broad.mit.edu 37 11 6913692 6913692 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:6913692G>A ENST00000299459.2 - 1 138 c.40C>T c.(40-42)Ctt>Ttt p.L14F NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGTCCCAGAAGGAGGAATTCT 0.433000 14 58 0 0 0.004007 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457408 21457408 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:21457408G>A ENST00000307378.6 - 7 1262 c.542C>T c.(541-543)tCc>tTc p.S181F SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S181F|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.S49F|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S179F NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 181 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.S181F(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TTCTATATAGGAAATACCCAA 0.373000 21 26 0 0 0.008871 0 0 ZNF229 7772 broad.mit.edu 37 19 44933324 44933324 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:44933324G>A ENST00000291187.4 - 6 1936 c.1614C>T c.(1612-1614)ccC>ccT p.P538P ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.P544P|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 544 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CGCATTTGTAGGGTTTCTCTC 0.512000 24 75 0 0 0.014323 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54903641 54903641 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:54903641G>A ENST00000293373.6 + 7 686 c.607G>A c.(607-609)Gga>Aga p.G203R NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G153R NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 203 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 GGCTGTGAGTGGAGCCCTCCT 0.517000 63 190 0 0 0.014410 0 0 OR10A6 390093 broad.mit.edu 37 11 7949494 7949494 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:7949494G>A ENST00000309838.2 - 1 715 c.716C>T c.(715-717)tCc>tTc p.S239F NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCACAGGTGGAAAAGGCCTT 0.443000 16 52 0 0 0.003163 0 0 SPTBN5 51332 broad.mit.edu 37 15 42171478 42171478 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:42171478G>A ENST00000320955.6 - 16 3389 c.3162C>T c.(3160-3162)ttC>ttT p.F1054F NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1054 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CACTTTGGAGGAAGTGGACCC 0.637000 22 55 0 0 0.010504 0 0 OR13H1 347468 broad.mit.edu 37 X 130678461 130678461 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:130678461C>T ENST00000338616.3 + 1 512 c.414C>T c.(412-414)ggC>ggT p.G138G NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TTATGAATGGCCCAGTATGTG 0.537000 54 64 0 0 0.014410 0 0 SSTR1 6751 broad.mit.edu 37 14 38678754 38678754 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:38678754G>A ENST00000267377.2 + 3 777 c.160G>A c.(160-162)Ggc>Agc p.G54S NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 54 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CTTGAGCGAGGGCCAGGGCAG 0.667000 12 29 0 0 0.010729 0 0 NADK 65220 broad.mit.edu 37 1 1696761 1696761 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:1696761C>T ENST00000344463.4 - 2 306 c.85G>A c.(85-87)Gat>Aat p.D29N NADK_ENST00000492768.1_5'UTR|NADK_ENST00000341991.3_Missense_Mutation_p.D29N|NADK_ENST00000378625.1_Missense_Mutation_p.D29N|NADK_ENST00000341426.5_Missense_Mutation_p.D29N O95544 NADK_HUMAN NAD kinase 29 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CAGGTCTCATCGCCGTGGCAG 0.562000 18 72 0 0 0.004990 0 0 CCNT1 904 broad.mit.edu 37 12 49087393 49087393 + Missense_Mutation SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:49087393A>G ENST00000261900.3 - 9 1826 c.1604T>C c.(1603-1605)gTt>gCt p.V535A NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 535 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 CCCAGTACCAACTGGAAGTTG 0.428000 66 182 0 0 0.014410 0 0 OGFOD3 79701 broad.mit.edu 37 17 80369340 80369340 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:80369340C>T ENST00000313056.5 - 3 522 c.371G>A c.(370-372)cGg>cAg p.R124Q OGFOD3_ENST00000329197.5_Missense_Mutation_p.R124Q NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 CCTGCGAATCCGCTCCGCTTC 0.582000 6 40 0 0 0.001168 0 0 ASXL3 80816 broad.mit.edu 37 18 31324785 31324785 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:31324785G>A ENST00000269197.5 + 12 4973 c.4973G>A c.(4972-4974)aGg>aAg p.R1658K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTTCATCCCAGGAATCTTGTA 0.433000 12 61 0 0 0.010729 0 0 PAPPA 5069 broad.mit.edu 37 9 118949888 118949888 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:118949888G>A ENST00000328252.3 + 2 1240 c.871G>A c.(871-873)Gac>Aac p.D291N NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 291 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GGAGAACTGGGACAATGTGAA 0.582000 22 38 0 0 0.010504 0 0 FGF19 9965 broad.mit.edu 37 11 69514100 69514100 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:69514100G>A ENST00000294312.3 - 3 1346 c.581C>T c.(580-582)aCc>aTc p.T194I NM_005117.2 NP_005108.1 O95750 FGF19_HUMAN fibroblast growth factor 19 194 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) CATGCTGTCGGTCTCCAGGGG 0.592000 24 38 0 0 0.002780 0 0 WDR62 284403 broad.mit.edu 37 19 36577616 36577616 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:36577616G>A ENST00000401500.2 + 13 1705 c.1670G>A c.(1669-1671)cGg>cAg p.R557Q WDR62_ENST00000270301.7_Missense_Mutation_p.R557Q NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 557 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCAGCCAGTCGGGACCGGCTG 0.597000 4 14 0 0 0.000602 0 0 REG1P 5969 broad.mit.edu 37 2 79363984 79363984 + RNA SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:79363984C>T ENST00000444841.1 - 0 354 ATCAGCGAAGCCACAAAGGCA 0.512000 7 37 0 0 0.001984 0 0 CEP135 9662 broad.mit.edu 37 4 56886933 56886933 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:56886933G>A ENST00000257287.4 + 24 3431 c.3307G>A c.(3307-3309)Gaa>Aaa p.E1103K NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 1103 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding p.E1103K(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) GATCTCAACTGAAAGATACGA 0.333000 35 52 0 0 0.003271 0 0 ITGA5 3678 broad.mit.edu 37 12 54799035 54799035 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:54799035G>A ENST00000293379.4 - 12 1401 c.1140C>T c.(1138-1140)acC>acT p.T380T RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 380 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TGAGGGTAAGGGTGGGCGTGG 0.642000 28 74 0 0 0.004656 0 0 MIR323B 574410 broad.mit.edu 37 14 101522630 101522630 + RNA SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:101522630C>T ENST00000385269.2 + 0 75 NR_036133.1 GACCTCTTTTCGGTATCAGAT 0.512000 4 13 0 0 0.009096 0 0 GCOM1 145781 broad.mit.edu 37 15 57913864 57913864 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:57913864G>A ENST00000574161.1 + 4 496 c.377G>A c.(376-378)aGa>aAa p.R126K MYZAP_ENST00000267853.5_Missense_Mutation_p.R126K|GCOM1_ENST00000396180.1_Intron|MYZAP_ENST00000380565.4_Missense_Mutation_p.R126K|GCOM1_ENST00000572390.1_Missense_Mutation_p.R126K|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.R126K|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.R126K|GCOM1_ENST00000380568.3_Missense_Mutation_p.R126K NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 126 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GATGAGATGAGACAGAAGATT 0.468000 33 95 0 0 0.003755 0 0 ASTN1 460 broad.mit.edu 37 1 177001793 177001793 + Missense_Mutation SNP C C A rs148328689 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:177001793C>A ENST00000367654.2 - 3 677 c.664G>T c.(664-666)Gtg>Ttg p.V222L ASTN1_ENST00000424564.2_Missense_Mutation_p.V222L|ASTN1_ENST00000361833.2_Missense_Mutation_p.V222L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.V222L O14525 ASTN1_HUMAN astrotactin 1 222 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGCCCTGCACGCGGGCATTG 0.602000 50 67 3.86236e-30 4.86587e-30 0.014410 1 0 RBL1 5933 broad.mit.edu 37 20 35690648 35690648 + Missense_Mutation SNP C C G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:35690648C>G ENST00000373664.3 - 8 988 c.922G>C c.(922-924)Gag>Cag p.E308Q RBL1_ENST00000344359.3_Missense_Mutation_p.E308Q NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 308 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) AGAACATACTCTTCATACTCC 0.373000 13 26 0 0 0.002450 0 0 RCCD1 91433 broad.mit.edu 37 15 91500016 91500016 + Missense_Mutation SNP G G T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:91500016G>T ENST00000394258.2 + 2 254 c.52G>T c.(52-54)Ggg>Tgg p.G18W RCCD1_ENST00000556618.1_Missense_Mutation_p.G18W|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000555155.1_Missense_Mutation_p.G18W NM_001017919.1|NM_033544.2 NP_001017919.1|NP_291022.2 A6NED2 RCCD1_HUMAN RCC1 domain containing 1 18 breast(1)|kidney(1)|large_intestine(2) 4 Lung NSC(78;0.0987)|all_lung(78;0.175) Lung(145;0.189) CTGCGGCTTCGGGCAGGAGCT 0.771000 OREG0023477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 261 0.00198382 0.00243309 0.001984 1 0 PENK 5179 broad.mit.edu 37 8 57354230 57354230 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:57354230C>T ENST00000314922.3 - 2 481 c.405G>A c.(403-405)cgG>cgA p.R135R PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.R135R NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 135 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) AGCCCCCATACCGCTTGGCGA 0.512000 23 86 0 0 0.004656 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95430554 95430554 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:95430554G>A ENST00000359204.4 - 13 1075 c.878C>T c.(877-879)cCa>cTa p.P293L FRA10AC1_ENST00000536233.1_3'UTR|FRA10AC1_ENST00000460752.1_5'UTR NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 293 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 CTCTGGTAGTGGACCCTTCCA 0.323000 6 19 0 0 0.001168 0 0 MARCO 8685 broad.mit.edu 37 2 119749416 119749416 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:119749416G>A ENST00000541757.1 + 15 1318 c.938G>A c.(937-939)gGa>gAa p.G313E MARCO_ENST00000327097.4_Missense_Mutation_p.G391E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 391 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGAGCCCCTGGACAAGCTGGC 0.582000 5 26 0 0 0.000602 0 0 GPR98 84059 broad.mit.edu 37 5 90046440 90046440 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:90046440G>A ENST00000405460.2 + 53 11143 c.11047G>A c.(11047-11049)Gga>Aga p.G3683R NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3683 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACGCTTAAAAGGAACATATGG 0.363000 47 86 0 0 0.014410 0 0 SCN9A 6335 broad.mit.edu 37 2 167055571 167055571 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:167055571G>A ENST00000375387.4 - 27 5921 c.5581C>T c.(5581-5583)Cgt>Tgt p.R1861C AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1849C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1860C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1861C Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1860 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ATCTGTGAACGAAGAGAATCC 0.453000 32 112 0 0 0.003271 0 0 PSG9 5678 broad.mit.edu 37 19 43766210 43766210 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:43766210G>A ENST00000244293.7 - 3 577 c.511C>T c.(511-513)Cct>Tct p.P171S PSG9_ENST00000593948.1_Missense_Mutation_p.P171S|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.P171S|PSG9_ENST00000596730.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 171 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGAGTCTCAGGATCACAGATT 0.532000 66 184 0 0 0.014410 0 0 C2CD5 9847 broad.mit.edu 37 12 22609921 22609921 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:22609921G>A ENST00000333957.4 - 23 2963 c.2708C>T c.(2707-2709)aCt>aTt p.T903I C2CD5_ENST00000446597.1_Missense_Mutation_p.T954I|C2CD5_ENST00000544930.1_Missense_Mutation_p.T759I|C2CD5_ENST00000396028.2_Missense_Mutation_p.T945I|C2CD5_ENST00000536386.1_Missense_Mutation_p.T956I|C2CD5_ENST00000542676.1_Missense_Mutation_p.T954I|C2CD5_ENST00000545552.1_Missense_Mutation_p.T957I NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 AAGAGAAGTAGTCTCTCGAAT 0.284000 7 19 0 0 0.003080 0 0 PAPPA 5069 broad.mit.edu 37 9 119094741 119094741 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:119094741G>A ENST00000328252.3 + 12 3760 c.3391G>A c.(3391-3393)Gat>Aat p.D1131N PAPPA_ENST00000534838.1_Missense_Mutation_p.D169N NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1131 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TCAGAGCCACGATCTAGGTAA 0.493000 15 29 0 0 0.003163 0 0 ZNF200 7752 broad.mit.edu 37 16 3274148 3274148 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:3274148G>A ENST00000431561.3 - 5 1544 c.932C>T c.(931-933)tCt>tTt p.S311F ZNF200_ENST00000575948.1_Missense_Mutation_p.S310F|ZNF200_ENST00000396871.4_Missense_Mutation_p.S310F|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.S311F|ZNF200_ENST00000396868.3_Missense_Mutation_p.S310F|ZNF200_ENST00000396870.4_Missense_Mutation_p.S310F NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 TCCACACTGAGAACAGGAATA 0.388000 33 99 0 0 0.003755 0 0 SRCIN1 80725 broad.mit.edu 37 17 36704930 36704930 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:36704930C>T ENST00000264659.7 - 17 3357 c.3133G>A c.(3133-3135)Gag>Aag p.E1045K SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1079K|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 917 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 ACCTCCAGCTCCTCGGACTCA 0.667000 7 26 0 0 0.001984 0 0 ADAD1 132612 broad.mit.edu 37 4 123301320 123301320 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:123301320G>A ENST00000296513.2 + 3 281 c.96G>A c.(94-96)acG>acA p.T32T ADAD1_ENST00000388725.2_Silent_p.T14T|ADAD1_ENST00000388724.2_Silent_p.T32T NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 32 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CGACAAAGACGATAACTACAC 0.468000 33 26 0 0 0.010818 0 0 DUSP22 56940 broad.mit.edu 37 6 348772 348772 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:348772C>T ENST00000604971.1 + 4 1243 c.130C>T c.(130-132)Cgg>Tgg p.R44W DUSP22_ENST00000419235.2_Missense_Mutation_p.R147W|DUSP22_ENST00000605315.1_Missense_Mutation_p.R44W|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.R147W|DUSP22_ENST00000603453.1_Missense_Mutation_p.R44W Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 147 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TCTCCAGTATCGGCAGTGGCT 0.517000 15 103 0 0 0.004007 0 0 SLC9C1 285335 broad.mit.edu 37 3 111918179 111918179 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:111918179C>T ENST00000305815.5 - 20 2764 c.2512G>A c.(2512-2514)Gga>Aga p.G838R SLC9C1_ENST00000487372.1_Missense_Mutation_p.G790R NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 838 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TTATTAATTCCAGCACCTTCA 0.308000 7 42 0 0 0.001984 0 0 FAM83H 286077 broad.mit.edu 37 8 144808643 144808643 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:144808643G>A ENST00000388913.3 - 5 3113 c.2988C>T c.(2986-2988)ccC>ccT p.P996P NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 996 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCGGGCTCTCGGGTTGGCCGT 0.697000 14 18 0 0 0.002450 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72027980 72027980 + Missense_Mutation SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:72027980A>G ENST00000378743.3 - 12 2823 c.2465T>C c.(2464-2466)gTt>gCt p.V822A NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 822 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CTGCTTAGTAACCATTGCTAT 0.378000 9 40 0 0 0.004482 0 0 NOSIP 51070 broad.mit.edu 37 19 50059050 50059050 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:50059050C>T ENST00000391853.3 - 10 1015 c.864G>A c.(862-864)gtG>gtA p.V288V NOSIP_ENST00000596358.1_Silent_p.V288V|NOSIP_ENST00000339093.3_Silent_p.V291V NM_015953.3 NP_057037.1 Q9Y314 NOSIP_HUMAN nitric oxide synthase interacting protein 288 negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process cytosol|nucleus protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1) 11 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133) CTTGCAGCTTCACTCCGGAGC 0.647000 13 59 0 0 0.002450 0 0 TTI1 9675 broad.mit.edu 37 20 36642137 36642137 + Missense_Mutation SNP C C G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:36642137C>G ENST00000373448.2 - 3 320 c.82G>C c.(82-84)Gag>Cag p.E28Q TTI1_ENST00000449821.1_Missense_Mutation_p.E28Q|TTI1_ENST00000373447.3_Missense_Mutation_p.E28Q|TTI1_ENST00000487362.1_5'UTR NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 28 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TCCACATTCTCCACTGTCTGG 0.512000 34 101 0 0 0.003755 0 0 CAPN9 10753 broad.mit.edu 37 1 230883404 230883404 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:230883404C>T ENST00000354537.1 + 1 244 c.162C>T c.(160-162)tcC>tcT p.S54S CAPN9_ENST00000366666.2_Silent_p.S54S|CAPN9_ENST00000271971.2_Silent_p.S54S|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 54 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GCAATTCCTCCCTGTTCTACA 0.587000 44 68 0 0 0.014410 0 0 RIPK1 8737 broad.mit.edu 37 6 3083487 3083487 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:3083487G>A ENST00000259808.4 + 5 926 c.628G>A c.(628-630)Gat>Aat p.D210N RIPK1_ENST00000541791.1_Missense_Mutation_p.D164N|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.D210N Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 210 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) AGAGAAGTCGGATGTGTACAG 0.517000 14 54 0 0 0.001855 0 0 RGPD3 653489 broad.mit.edu 37 2 107041440 107041440 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:107041440C>T ENST00000409886.3 - 20 3070 c.2983G>A c.(2983-2985)Gga>Aga p.G995R RGPD3_ENST00000304514.7_Missense_Mutation_p.G995R NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 995 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCTGAAAATCCCTTGAAATTG 0.373000 57 154 0 0 0.014410 0 0 IRX1 79192 broad.mit.edu 37 5 3599720 3599720 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:3599720G>A ENST00000302006.3 + 2 710 c.658G>A c.(658-660)Gac>Aac p.D220N CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 220 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 GGCCGAGGACGACGAGGAGAT 0.617000 16 31 0 0 0.004007 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261270 1261270 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:1261270C>T ENST00000348261.5 + 22 4574 c.4326C>T c.(4324-4326)atC>atT p.I1442I CACNA1H_ENST00000358590.4_Silent_p.I1442I|CACNA1H_ENST00000565831.1_Silent_p.I1442I NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1442 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTTCTTCATCATTTTTGGCA 0.627000 34 130 0 0 0.004289 0 0 PTPRF 5792 broad.mit.edu 37 1 44057176 44057176 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:44057176G>A ENST00000359947.4 + 9 1823 c.1483G>A c.(1483-1485)Ggc>Agc p.G495S PTPRF_ENST00000372414.3_Missense_Mutation_p.G495S|PTPRF_ENST00000438120.1_Missense_Mutation_p.G495S|PTPRF_ENST00000372413.3_Missense_Mutation_p.G495S|PTPRF_ENST00000422171.2_5'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 495 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CACCGCCGTGGGCGATGGCCC 0.682000 3 18 0 0 0.004672 0 0 CSMD1 64478 broad.mit.edu 37 8 2886972 2886972 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:2886972C>T ENST00000520002.1 - 52 8282 c.7727G>A c.(7726-7728)gGa>gAa p.G2576E CSMD1_ENST00000602557.1_Missense_Mutation_p.G2576E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2575E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2576E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2575E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2576E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2576 Sushi 16. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATTCAAGGATCCTGAAACCAG 0.522000 5 14 0 0 0.000602 0 0 OR4N5 390437 broad.mit.edu 37 14 20612314 20612314 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:20612314C>T ENST00000333629.1 + 1 420 c.420C>T c.(418-420)gcC>gcT p.A140A NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ACCCTAGAGCCTGCTATGCAT 0.512000 37 172 0 0 0.006999 0 0 CDKAL1 54901 broad.mit.edu 37 6 21065457 21065457 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:21065457G>A ENST00000274695.4 + 12 1401 c.1234G>A c.(1234-1236)Gtg>Atg p.V412M CDKAL1_ENST00000378610.1_Missense_Mutation_p.V412M|CDKAL1_ENST00000378624.4_Missense_Mutation_p.V342M NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 412 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TCCAGCACAAGTGGTAAGATC 0.393000 51 140 0 0 0.014410 0 0 UTS2R 2837 broad.mit.edu 37 17 80333227 80333227 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:80333227C>T ENST00000313135.2 + 1 1075 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S NM_018949.1 NP_061822.1 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 343 integral to membrane|plasma membrane breast(1)|endometrium(4)|kidney(1)|lung(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) ggggcccgTTCCCTCCCTGCA 0.751000 7 14 0 0 0.001984 0 0 OR5P3 120066 broad.mit.edu 37 11 7846870 7846870 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:7846870G>A ENST00000328375.1 - 1 649 c.650C>T c.(649-651)tCc>tTc p.S217F RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATAGATGTAGGATATGGCTAT 0.473000 19 48 0 0 0.010504 0 0 MYO3A 53904 broad.mit.edu 37 10 26243817 26243817 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:26243817G>A ENST00000265944.5 + 4 349 c.183G>A c.(181-183)gaG>gaA p.E61E MYO3A_ENST00000376301.1_Silent_p.E61E|MYO3A_ENST00000376302.1_Silent_p.E61E|MYO3A_ENST00000543632.1_Silent_p.E61E NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 61 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTGACGAAGAGATTGAAGCAG 0.323000 28 49 0 0 0.006320 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134488026 134488026 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:134488026G>A ENST00000319914.5 - 4 1269 c.242C>T c.(241-243)aCc>aTc p.T81I ST3GAL1_ENST00000522652.1_Missense_Mutation_p.T81I|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.T81I|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.T81I Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 81 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CGGCTGCATGGTCTGGTTGAA 0.617000 9 33 0 0 0.004482 0 0 GPLD1 2822 broad.mit.edu 37 6 24450108 24450108 + Missense_Mutation SNP G G A rs149093201 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:24450108G>A ENST00000230036.1 - 15 1465 c.1355C>T c.(1354-1356)tCg>tTg p.S452L NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 452 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 AGCCAAGGCCGAGCCAAACCG 0.622000 19 52 0 0 0.008871 0 0 EGLN3 112399 broad.mit.edu 37 14 34398386 34398386 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:34398386C>T ENST00000250457.3 - 3 838 c.510G>A c.(508-510)gaG>gaA p.E170E EGLN3_ENST00000553215.1_Silent_p.E76E NM_022073.3 NP_071356.1 Q9H6Z9 EGLN3_HUMAN egl-9 family hypoxia-inducible factor 3 170 Fe2OG dioxygenase. apoptosis cytoplasm|nucleus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1) 15 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) ATGATTTCCCCTCTGGAAATA 0.453000 11 42 0 0 0.010729 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125405422 125405422 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:125405422C>T ENST00000431078.1 + 13 2325 c.1961C>T c.(1960-1962)gCc>gTc p.A654V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 654 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TATGCCATGGCCTTGGACTAC 0.612000 9 15 0 0 0.006214 0 0 MRPL42 28977 broad.mit.edu 37 12 93881291 93881291 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:93881291C>T ENST00000549982.1 + 5 399 c.238C>T c.(238-240)Cct>Tct p.P80S MRPL42_ENST00000393128.4_Missense_Mutation_p.P80S|MRPL42_ENST00000361630.2_Missense_Mutation_p.P80S|MRPL42_ENST00000548545.1_Missense_Mutation_p.P80S|MRPL42_ENST00000547098.1_Missense_Mutation_p.P80S|MRPL42_ENST00000552217.1_Missense_Mutation_p.P80S NM_014050.3|NM_172177.3 NP_054769.1|NP_751917.1 Q9Y6G3 RM42_HUMAN mitochondrial ribosomal protein L42 80 translation mitochondrial small ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2) 7 TCGGCCAGATCCTGTGCATAA 0.373000 9 58 0 0 0.006214 0 0 ZNF230 7773 broad.mit.edu 37 19 44515405 44515405 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:44515405C>T ENST00000429154.2 + 5 1442 c.1214C>T c.(1213-1215)tCa>tTa p.S405L NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) AGCCGGGCTTCAAGTATTTTG 0.433000 20 57 0 0 0.007413 0 0 MC2R 4158 broad.mit.edu 37 18 13884885 13884885 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:13884885G>A ENST00000327606.3 - 2 813 c.633C>T c.(631-633)ccC>ccT p.P211P NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 211 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) TGTTGGCTCTGGGGAGGGTGG 0.557000 12 42 0 0 0.010729 0 0 KYNU 8942 broad.mit.edu 37 2 143715284 143715284 + Splice_Site SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:143715284G>A ENST00000264170.4 + 7 840 c.582_splice c.e7+1 p.E194_splice KYNU_ENST00000375773.2_Splice_Site_p.E194_splice|KYNU_ENST00000409512.1_Splice_Site_p.E194_splice NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 194 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AGCCAAGAGAGGTATATGAGA 0.289000 5 22 0 0 0.001984 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327778 49327778 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:49327778G>A ENST00000559471.1 - 3 544 c.281C>T c.(280-282)cCc>cTc p.P94L SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P94L NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 94 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AGATATAATGGGATAGGCAAA 0.413000 15 51 0 0 0.003163 0 0 SH2D5 400745 broad.mit.edu 37 1 21050224 21050224 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:21050224G>A ENST00000375031.1 - 7 1175 c.551C>T c.(550-552)cCt>cTt p.P184L SH2D5_ENST00000444387.2_Missense_Mutation_p.P268L|SH2D5_ENST00000460804.1_5'UTR NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 184 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCATGCGGCAGGAACTGTGGA 0.672000 10 28 0 0 0.006214 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508264 37508264 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:37508264C>T ENST00000374660.1 + 40 3912 c.3813C>T c.(3811-3813)gaC>gaT p.D1271D ANKRD30A_ENST00000361713.1_Silent_p.D1152D|ANKRD30A_ENST00000602533.1_Silent_p.D1152D Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1208 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTGTACAAGACCATGATCAAA 0.373000 15 35 0 0 0.002450 0 0 CCDC27 148870 broad.mit.edu 37 1 3673309 3673309 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:3673309C>T ENST00000294600.2 + 4 650 c.566C>T c.(565-567)cCc>cTc p.P189L NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 189 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TACCTCCTTCCCTTCAGTAAG 0.567000 29 89 0 0 0.013726 0 0 ITGA2B 3674 broad.mit.edu 37 17 42463233 42463233 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:42463233C>T ENST00000262407.5 - 3 398 c.367G>A c.(367-369)Gga>Aga p.G123R ITGA2B_ENST00000353281.4_Missense_Mutation_p.G123R NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 123 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) GCCCCCAGTCCTTGGCGGGCC 0.642000 3 20 0 0 0.004672 0 0 IFIT3 3437 broad.mit.edu 37 10 91099144 91099144 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:91099144C>T ENST00000371818.4 + 2 912 c.732C>T c.(730-732)ctC>ctT p.L244L LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.L244L|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 244 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 CAGATGTCCTCCGCAGTGCAG 0.443000 14 23 0 0 0.003163 0 0 CSMD2 114784 broad.mit.edu 37 1 34090734 34090734 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:34090734G>A ENST00000373381.4 - 34 5593 c.5417C>T c.(5416-5418)gCc>gTc p.A1806V CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.A679V NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1766 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCCCTGCAGGGCATAGCCGGA 0.642000 22 74 0 0 0.014323 0 0 APBA2 321 broad.mit.edu 37 15 29346946 29346946 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:29346946C>T ENST00000558402.1 + 5 1458 c.859C>T c.(859-861)Ctt>Ttt p.L287F APBA2_ENST00000558259.1_Missense_Mutation_p.L287F|APBA2_ENST00000558330.1_Missense_Mutation_p.L287F|APBA2_ENST00000411764.1_Missense_Mutation_p.L287F|APBA2_ENST00000561069.1_Missense_Mutation_p.L287F Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 287 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) GCTGAACCTCCTTCCCGAGGC 0.667000 11 31 0 0 0.008291 0 0 KCTD3 51133 broad.mit.edu 37 1 215759998 215759998 + Missense_Mutation SNP G G T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:215759998G>T ENST00000259154.4 + 9 1081 c.787G>T c.(787-789)Gtt>Ttt p.V263F NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 263 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) CTTGTGGAGTGTTCAGGATGG 0.393000 33 118 4.31634e-10 5.35688e-10 0.012213 1 0 WDR62 284403 broad.mit.edu 37 19 36577617 36577617 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:36577617G>A ENST00000401500.2 + 13 1706 c.1671G>A c.(1669-1671)cgG>cgA p.R557R WDR62_ENST00000270301.7_Silent_p.R557R NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 557 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CAGCCAGTCGGGACCGGCTGA 0.602000 4 14 0 0 0.000602 0 0 MYH2 4620 broad.mit.edu 37 17 10436921 10436921 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:10436921G>A ENST00000245503.5 - 20 2593 c.2209C>T c.(2209-2211)Cct>Tct p.P737S MYH2_ENST00000397183.2_Missense_Mutation_p.P737S|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 737 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TGCCCTTCAGGGATTGCACTT 0.383000 15 60 0 0 0.002450 0 0 MICALL2 79778 broad.mit.edu 37 7 1482004 1482004 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:1482004G>A ENST00000297508.7 - 7 1710 c.1535C>T c.(1534-1536)tCg>tTg p.S512L MICALL2_ENST00000405088.4_Missense_Mutation_p.S300L NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 512 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TTCCATCCTCGAAGGGAGGCC 0.632000 60 161 0 0 0.014410 0 0 CCDC40 55036 broad.mit.edu 37 17 78063627 78063627 + Missense_Mutation SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:78063627T>C ENST00000397545.4 + 17 2803 c.2776T>C c.(2776-2778)Tcc>Ccc p.S926P CCDC40_ENST00000374877.3_Missense_Mutation_p.S926P|CCDC40_ENST00000573903.1_3'UTR NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 926 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CTCAGTGGATTCCGAGATCGG 0.547000 8 30 0 0 0.003080 0 0 RPE65 6121 broad.mit.edu 37 1 68906623 68906623 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:68906623C>T ENST00000262340.5 - 6 609 c.556G>A c.(556-558)Gat>Aat p.D186N NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa 186 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 ACGGTTCCATCATTTTCAATG 0.413000 7 30 0 0 0.001984 0 0 SEC61A1 29927 broad.mit.edu 37 3 127786443 127786443 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:127786443C>T ENST00000243253.3 + 10 1339 c.1155C>T c.(1153-1155)tcC>tcT p.S385S RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Silent_p.S265S|SEC61A1_ENST00000464451.1_Silent_p.S391S|SEC61A1_ENST00000483956.1_3'UTR NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 385 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 TCTCAGGTTCCTCTGCCAAAG 0.458000 18 47 0 0 0.008871 0 0 TGM4 7047 broad.mit.edu 37 3 44951734 44951734 + Missense_Mutation SNP C C T rs145555133 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:44951734C>T ENST00000296125.4 + 11 1548 c.1480C>T c.(1480-1482)Ctt>Ttt p.L494F NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 494 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CACCGTGATTCTTAAAAGGAA 0.448000 30 77 0 0 0.013726 0 0 PDE1C 5137 broad.mit.edu 37 7 31887622 31887622 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:31887622C>T ENST00000396184.3 - 10 1144 c.940G>A c.(940-942)Gaa>Aaa p.E314K PDE1C_ENST00000396193.1_Missense_Mutation_p.E374K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E314K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E314K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E314K NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 314 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ATATTCATTTCCTCGTCATCT 0.408000 14 35 0 0 0.001855 0 0 CLDN6 9074 broad.mit.edu 37 16 3065388 3065388 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:3065388G>A ENST00000396925.1 - 3 1063 c.635C>T c.(634-636)tCt>tTt p.S212F CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.S212F P56747 CLD6_HUMAN claudin 6 212 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 AGGGTACTCAGAGGGCCCCCG 0.632000 24 87 0 0 0.004656 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567150 173567150 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:173567150G>A ENST00000367714.3 - 4 672 c.250C>T c.(250-252)Ctt>Ttt p.L84F SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 84 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GTTCTTAGAAGAGGGTAGACA 0.308000 25 31 0 0 0.002780 0 0 ALKBH1 8846 broad.mit.edu 37 14 78140470 78140470 + Missense_Mutation SNP C C G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:78140470C>G ENST00000216489.3 - 6 870 c.855G>C c.(853-855)ttG>ttC p.L285F NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 285 Fe2OG dioxygenase. DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CTGCGTGGTTCAAGAGGCGGC 0.562000 21 39 0 0 0.010504 0 0 SYNJ2 8871 broad.mit.edu 37 6 158497657 158497657 + Splice_Site SNP G G A rs143612133 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:158497657G>A ENST00000355585.4 + 17 2367 c.e17-1 SYNJ2_ENST00000367121.3_Splice_Site|SYNJ2_ENST00000367122.2_Splice_Site NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TCTCCCAATAGATTTTTAAGG 0.428000 18 53 0 0 0.007413 0 0 FMN2 56776 broad.mit.edu 37 1 240341353 240341353 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:240341353G>A ENST00000319653.9 + 3 2145 c.1915G>A c.(1915-1917)Gag>Aag p.E639K RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 639 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACACAGGCTCGAGGATGCTGA 0.448000 6 38 0 0 0.001984 0 0 FUCA1 2517 broad.mit.edu 37 1 24181003 24181003 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:24181003G>A ENST00000374479.3 - 5 823 c.816C>T c.(814-816)caC>caT p.H272H NM_000147.4 NP_000138.2 P04066 FUCO_HUMAN fucosidase, alpha-L- 1, tissue 272 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) ATCCTCCATGGTGACAGGAAC 0.448000 37 96 0 0 0.003755 0 0 KIAA1109 84162 broad.mit.edu 37 4 123132086 123132086 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:123132086C>T ENST00000264501.4 + 20 2456 c.2083C>T c.(2083-2085)Cag>Tag p.Q695* KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.Q695*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.Q695*|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 695 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AAGGCCATCCCAGAAGACATC 0.398000 9 30 0 0 0.004482 0 0 SLC16A3 9123 broad.mit.edu 37 17 80196837 80196837 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:80196837G>A ENST00000581287.1 + 4 3705 c.1383G>A c.(1381-1383)ccG>ccA p.P461P SLC16A3_ENST00000392341.1_Silent_p.P461P|SLC16A3_ENST00000392339.1_Silent_p.P461P|SLC16A3_ENST00000582743.1_Silent_p.P461P NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 461 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TTCACACCCCGGAAACAAGTG 0.587000 27 76 0 0 0.004656 0 0 E2F8 79733 broad.mit.edu 37 11 19246915 19246915 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:19246915G>A ENST00000527884.1 - 12 2506 c.2274C>T c.(2272-2274)atC>atT p.I758I E2F8_ENST00000250024.4_Silent_p.I758I|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 758 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACACAGGAACGATTCCAGACC 0.537000 34 92 0 0 0.010818 0 0 DSE 29940 broad.mit.edu 37 6 116757091 116757091 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:116757091C>T ENST00000331677.3 + 7 1904 c.1460C>T c.(1459-1461)tCc>tTc p.S487F DSE_ENST00000359564.2_Missense_Mutation_p.S487F|DSE_ENST00000537543.1_Missense_Mutation_p.S506F|DSE_ENST00000452085.3_Missense_Mutation_p.S487F Q9UL01 DSE_HUMAN dermatan sulfate epimerase 487 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TTGATGTTTTCCCCAGCTGTG 0.453000 11 55 0 0 0.010729 0 0 CATSPERG 57828 broad.mit.edu 37 19 38860873 38860873 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:38860873C>T ENST00000409235.3 + 28 3303 c.3188C>T c.(3187-3189)cCc>cTc p.P1063L CATSPERG_ENST00000410018.1_Missense_Mutation_p.P1023L|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 1063 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CCACTCAGTCCCAAGCGGGCC 0.607000 6 32 0 0 0.001168 0 0 ROS1 6098 broad.mit.edu 37 6 117622149 117622149 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:117622149C>T ENST00000368508.3 - 42 6919 c.6721G>A c.(6721-6723)Gaa>Aaa p.E2241K ROS1_ENST00000368507.3_Missense_Mutation_p.E2235K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2241 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCAAAGCTTTCATTTATGACT 0.323000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 36 0 0 0.013537 0 0 PAF1 54623 broad.mit.edu 37 19 39876822 39876822 + Nonsense_Mutation SNP C C A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:39876822C>A ENST00000221265.3 - 14 1735 c.1405G>T c.(1405-1407)Gag>Tag p.E469* PAF1_ENST00000595564.1_Missense_Mutation_p.M397I|PAF1_ENST00000221266.7_Missense_Mutation_p.M374I NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 469 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCTCTGTCCTCATCATCAGAG 0.617000 43 127 3.66854e-30 4.6357e-30 0.007835 1 0 KCNAB1 7881 broad.mit.edu 37 3 155838463 155838463 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:155838463G>A ENST00000490337.1 + 1 127 c.63G>A c.(61-63)agG>agA p.R21R KCNAB1_ENST00000389636.5_Silent_p.R21R NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 21 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CCAAGTTAAGGAGACAGTCTG 0.527000 43 118 0 0 0.008740 0 0 CRYGN 155051 broad.mit.edu 37 7 151135082 151135082 + Splice_Site SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:151135082C>T ENST00000337323.2 - 2 396 c.270_splice c.e2+1 p.M90_splice CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA NM_144727.1 NP_653328.1 Q8WXF5 CRGN_HUMAN crystallin, gamma N 90 central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCCACTCACCATTCCTACAG 0.642000 16 53 0 0 0.007413 0 0 APBA2 321 broad.mit.edu 37 15 29346945 29346945 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:29346945C>T ENST00000558402.1 + 5 1457 c.858C>T c.(856-858)ctC>ctT p.L286L APBA2_ENST00000558259.1_Silent_p.L286L|APBA2_ENST00000558330.1_Silent_p.L286L|APBA2_ENST00000411764.1_Silent_p.L286L|APBA2_ENST00000561069.1_Silent_p.L286L Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 286 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) CGCTGAACCTCCTTCCCGAGG 0.667000 11 32 0 0 0.008291 0 0 TENM1 10178 broad.mit.edu 37 X 123871026 123871026 + Missense_Mutation SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:123871026T>C ENST00000422452.2 - 4 620 c.557A>G c.(556-558)aAc>aGc p.N186S TENM1_ENST00000371130.3_Missense_Mutation_p.N186S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GGTGAACTGGTTGTGTGGGCT 0.552000 11 16 0 0 0.008291 0 0 CNTN5 53942 broad.mit.edu 37 11 100141934 100141934 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:100141934C>T ENST00000524871.1 + 18 2565 c.2275C>T c.(2275-2277)Cca>Tca p.P759S CNTN5_ENST00000527185.1_Missense_Mutation_p.P759S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P759S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P759S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.P685S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 759 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GACAGGAGATCCAAGCACCCC 0.463000 6 30 0 0 0.001168 0 0 VPS13D 55187 broad.mit.edu 37 1 12336378 12336378 + Silent SNP T T G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:12336378T>G ENST00000358136.3 + 19 2863 c.2733T>G c.(2731-2733)acT>acG p.T911T VPS13D_ENST00000356315.4_Silent_p.T911T NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 911 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTTCTGACACTCAGATTAAAG 0.398000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 28 0 0 0.001855 0 0 SUGP2 10147 broad.mit.edu 37 19 19114993 19114993 + Silent SNP G G T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:19114993G>T ENST00000601879.1 - 7 3210 c.2913C>A c.(2911-2913)ctC>ctA p.L971L SUGP2_ENST00000456085.2_Silent_p.L740L|SUGP2_ENST00000452918.2_Silent_p.L971L|SUGP2_ENST00000337018.6_Silent_p.L971L|SUGP2_ENST00000600377.1_Silent_p.L985L Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 971 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GCTCCTGGATGAGACACACTC 0.552000 17 73 1.45105e-14 1.81164e-14 0.006122 1 0 FRG1B 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 5 50 0 0 0.000602 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835842 12835842 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:12835842C>T ENST00000357726.4 + 2 471 c.444C>T c.(442-444)atC>atT p.I148I NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 148 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGATGGTGATCCTAGACCTTT 0.547000 34 112 0 0 0.004289 0 0 CACNB4 785 broad.mit.edu 37 2 152698602 152698602 + Splice_Site SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:152698602C>T ENST00000360283.6 - 12 1275 c.1017_splice c.e12-1 p.E340_splice CACNB4_ENST00000427385.1_Splice_Site_p.E355_splice|CACNB4_ENST00000397327.2_Splice_Site_p.E326_splice|CACNB4_ENST00000539935.1_Splice_Site_p.E373_splice|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Splice_Site_p.E339_splice O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 373 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) TCAAACATTTCCTGTAGATGA 0.388000 9 21 0 0 0.006214 0 0 WEE2 494551 broad.mit.edu 37 7 141414188 141414188 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:141414188G>A ENST00000397541.2 + 2 928 c.522G>A c.(520-522)agG>agA p.R174R WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 174 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) GTGGCAAGAGGAAAATAAGAG 0.383000 13 50 0 0 0.001855 0 0 KIAA0247 9766 broad.mit.edu 37 14 70171398 70171398 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:70171398C>T ENST00000342745.4 + 4 710 c.397C>T c.(397-399)Ctc>Ttc p.L133F NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 133 integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) GGCGCTCATTCTCCTCCTCGT 0.527000 14 43 0 0 0.001855 0 0 CPA3 1359 broad.mit.edu 37 3 148586813 148586813 + Missense_Mutation SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:148586813A>G ENST00000296046.3 + 3 308 c.256A>G c.(256-258)Aaa>Gaa p.K86E RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 86 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GGATCAAAATAAAATGCACTA 0.413000 6 26 0 0 0.001168 0 0 NLRP4 147945 broad.mit.edu 37 19 56369884 56369884 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:56369884C>T ENST00000301295.6 + 3 1547 c.1125C>T c.(1123-1125)ttC>ttT p.F375F NLRP4_ENST00000346986.5_Silent_p.F375F|NLRP4_ENST00000587891.1_Silent_p.F300F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 375 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACTCCTCTTTCGTCTTTAACC 0.572000 18 66 0 0 0.004990 0 0 SMPD1 6609 broad.mit.edu 37 11 6413100 6413100 + Missense_Mutation SNP G G C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:6413100G>C ENST00000342245.4 + 2 973 c.805G>C c.(805-807)Gcc>Ccc p.A269P SMPD1_ENST00000527275.1_Missense_Mutation_p.A268P|SMPD1_ENST00000356761.2_Missense_Mutation_p.A269P|SMPD1_ENST00000299397.3_Missense_Mutation_p.A269P|SMPD1_ENST00000533196.1_Intron NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 267 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) GCTGGGCCCAGCCGGCCCTTT 0.642000 36 134 0 0 0.004289 0 0 NNT 23530 broad.mit.edu 37 5 43656142 43656142 + Missense_Mutation SNP A A C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:43656142A>C ENST00000264663.5 + 15 2481 c.2260A>C c.(2260-2262)Agt>Cgt p.S754R NNT_ENST00000512996.2_Missense_Mutation_p.S623R|NNT_ENST00000344920.4_Missense_Mutation_p.S754R NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 754 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CGTCACCTTTAGTGGGTCTCT 0.413000 20 49 0 0 0.014323 0 0 CYP2C19 1557 broad.mit.edu 37 10 96541683 96541683 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:96541683G>A ENST00000371321.3 + 5 830 c.748G>A c.(748-750)Gaa>Aaa p.E250K CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 250 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GAAAGTAAAAGAACACCAAGA 0.338000 11 31 0 0 0.010729 0 0 IL4R 3566 broad.mit.edu 37 16 27374945 27374945 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:27374945C>T ENST00000395762.2 + 11 2531 c.2272C>T c.(2272-2274)Ccc>Tcc p.P758S IL4R_ENST00000170630.2_Missense_Mutation_p.P758S|IL4R_ENST00000380922.3_Missense_Mutation_p.P743S|IL4R_ENST00000543915.2_Missense_Mutation_p.P758S NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 758 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CCCTACAACCCCCCTGAGGGC 0.637000 21 37 0 0 0.008871 0 0 PTPRJ 5795 broad.mit.edu 37 11 48168491 48168491 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:48168491G>A ENST00000418331.2 + 15 3327 c.2975G>A c.(2974-2976)gGc>gAc p.G992D NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 992 contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ACTGTGGGAGGCTTCATCTTC 0.408000 47 199 0 0 0.014410 0 0 ROS1 6098 broad.mit.edu 37 6 117683825 117683825 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:117683825G>A ENST00000368508.3 - 21 3520 c.3322C>T c.(3322-3324)Ccc>Tcc p.P1108S ROS1_ENST00000368507.3_Missense_Mutation_p.P1103S|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1108 Fibronectin type-III 5. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATCACTGAGGGAGTGACATTG 0.363000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 12 19 0 0 0.010729 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64747359 64747359 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:64747359C>T ENST00000536360.1 - 7 1829 c.1016G>A c.(1015-1017)gGa>gAa p.G339E Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 339 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) AATGGTGTTTCCATCACTTTG 0.408000 16 21 0 0 0.004990 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744365 140744365 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:140744365C>T ENST00000518069.1 + 1 468 c.468C>T c.(466-468)ttC>ttT p.F156F PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTTCCCTTCGCGCGGGATG 0.483000 16 23 0 0 0.004007 0 0 GPR31 2853 broad.mit.edu 37 6 167570978 167570978 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:167570978G>A ENST00000366834.1 - 1 839 c.342C>T c.(340-342)ctC>ctT p.L114L NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 114 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GGACCACACGGAGGTACCGGT 0.687000 8 30 0 0 0.003080 0 0 PDZD4 57595 broad.mit.edu 37 X 153073991 153073991 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:153073991G>A ENST00000164640.4 - 2 311 c.120C>T c.(118-120)tcC>tcT p.S40S PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 40 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCCTTGGAGGAGCGCAGGG 0.637000 6 4 0 0 0.001168 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761093 121761093 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:121761093G>A ENST00000504884.2 + 3 177 c.177G>A c.(175-177)tgG>tgA p.W59* SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G350E|SNCAIP_ENST00000261367.7_Missense_Mutation_p.G397E|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G397E|SNCAIP_ENST00000503116.2_Missense_Mutation_p.G397E|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 574 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GACGAAAATGGAAACAATCTA 0.433000 22 72 0 0 0.002780 0 0 STEAP2 261729 broad.mit.edu 37 7 89859333 89859333 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:89859333G>A ENST00000287908.3 + 4 1561 c.1168G>A c.(1168-1170)Gaa>Aaa p.E390K STEAP2_ENST00000394626.1_Missense_Mutation_p.E390K|STEAP2_ENST00000394621.2_Missense_Mutation_p.E390K|STEAP2_ENST00000402625.2_Missense_Mutation_p.E390K|STEAP2_ENST00000394632.1_Missense_Mutation_p.E390K|STEAP2_ENST00000394629.2_Missense_Mutation_p.E390K|STEAP2_ENST00000394622.2_Missense_Mutation_p.E390K NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 390 Ferric oxidoreductase. electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) AAACTGGAGAGAATTCAGTTT 0.383000 52 139 0 0 0.014410 0 0 CHD6 84181 broad.mit.edu 37 20 40033911 40033911 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:40033911G>A ENST00000373233.3 - 37 7647 c.7470C>T c.(7468-7470)atC>atT p.I2490I CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2490 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CGGTGAGGGGGATGCCTGGCA 0.557000 18 68 0 0 0.007413 0 0 TFPI 7035 broad.mit.edu 37 2 188361801 188361801 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:188361801C>T ENST00000233156.3 - 3 420 c.126G>A c.(124-126)acG>acA p.T42T TFPI_ENST00000392365.1_Silent_p.T42T|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Silent_p.T42T|TFPI_ENST00000409676.1_Silent_p.T42T NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 42 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) GTGGCAACTCCGTATCTATAA 0.303000 9 16 0 0 0.006214 0 0 SYNE1 23345 broad.mit.edu 37 6 152716712 152716712 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:152716712G>A ENST00000367255.5 - 51 8252 c.7651C>T c.(7651-7653)Cct>Tct p.P2551S SYNE1_ENST00000448038.1_Missense_Mutation_p.P2558S|SYNE1_ENST00000423061.1_Missense_Mutation_p.P2558S|SYNE1_ENST00000341594.5_Missense_Mutation_p.P2590S|SYNE1_ENST00000265368.4_Missense_Mutation_p.P2551S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2551 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCTTCTCAGGAATGTGCTGT 0.403000 HNSCC(10;0.0054) 22 67 0 0 0.010504 0 0 CNNM4 26504 broad.mit.edu 37 2 97428012 97428012 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:97428012G>A ENST00000377075.2 + 1 1374 c.1276G>A c.(1276-1278)Gac>Aac p.D426N NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 426 CBS 1. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CTACGTCAAAGACTTGGCCTT 0.498000 31 88 0 0 0.004878 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830709 7830709 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:7830709G>A ENST00000327325.5 + 4 518 c.400G>A c.(400-402)Gag>Aag p.E134K CLEC4M_ENST00000596363.1_Missense_Mutation_p.E106K|CLEC4M_ENST00000359059.5_Splice_Site|CLEC4M_ENST00000357361.2_Missense_Mutation_p.E134K|CLEC4M_ENST00000394122.2_Missense_Mutation_p.E122K|CLEC4M_ENST00000597522.1_Missense_Mutation_p.E134K|CLEC4M_ENST00000596707.1_Missense_Mutation_p.E113K|CLEC4M_ENST00000595496.1_Missense_Mutation_p.E113K|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000334806.5_Splice_Site NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 134 7 X approximate tandem repeats. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CAAGCTGCAGGAGATCTACCA 0.577000 26 82 0 0 0.004878 0 0 BTBD7 55727 broad.mit.edu 37 14 93723590 93723590 + Missense_Mutation SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:93723590A>G ENST00000334746.5 - 6 1866 c.1559T>C c.(1558-1560)gTg>gCg p.V520A BTBD7_ENST00000554565.1_Missense_Mutation_p.V169A|BTBD7_ENST00000393170.2_Missense_Mutation_p.V94A NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 520 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TTCAATTCGCACAAAAGGTAA 0.413000 23 71 0 0 0.003330 0 0 HOXB1 3211 broad.mit.edu 37 17 46607154 46607154 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:46607154C>T ENST00000239174.6 - 2 753 c.661G>A c.(661-663)Gag>Aag p.E221K HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 221 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AAATGGAACTCCTTTTCCAGT 0.602000 58 169 0 0 0.014410 0 0 DAGLA 747 broad.mit.edu 37 11 61503211 61503211 + Splice_Site SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:61503211G>A ENST00000257215.5 + 12 1329 c.1212_splice c.e12-1 p.D405_splice NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 405 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TCTCCCCAAGGATGCCCTGAC 0.677000 4 15 0 0 0.009096 0 0 CMA1 1215 broad.mit.edu 37 14 24976699 24976699 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:24976699C>T ENST00000250378.3 - 2 101 c.72G>A c.(70-72)ggG>ggA p.G24G CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 24 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) ATTCTGTGCCCCCGATGATCT 0.493000 30 100 0 0 0.008361 0 0 MIEF2 125170 broad.mit.edu 37 17 18167115 18167115 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:18167115C>T ENST00000395704.4 + 4 476 c.328C>T c.(328-330)Cga>Tga p.R110* SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000323019.4_Silent_p.F134F|SMCR7_ENST00000395706.2_Silent_p.F145F|SMCR7_ENST00000578621.1_3'UTR Q96C03 SMCR7_HUMAN 187 integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) TGCTGGCCTTCGAGCGGGACC 0.622000 12 53 0 0 0.013537 0 0 SALL1 6299 broad.mit.edu 37 16 51172979 51172979 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:51172979G>A ENST00000440970.1 - 2 3294 c.2863C>T c.(2863-2865)Cag>Tag p.Q955* SALL1_ENST00000251020.4_Nonsense_Mutation_p.Q1052*|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1052 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCTCGCATCTGATGTGTCAAC 0.468000 9 24 0 0 0.004482 0 0 DNAH10 196385 broad.mit.edu 37 12 124416294 124416294 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:124416294G>A ENST00000409039.3 + 74 12699 c.12674G>A c.(12673-12675)gGa>gAa p.G4225E DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4225 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAGCGCCTCGGAACAGGACTC 0.517000 12 72 0 0 0.003163 0 0 DNAH2 146754 broad.mit.edu 37 17 7710496 7710496 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7710496C>T ENST00000572933.1 + 62 10931 c.9471C>T c.(9469-9471)atC>atT p.I3157I DNAH2_ENST00000389173.2_Silent_p.I3157I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3157 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGTCACTGATCAACTTTGATA 0.498000 32 128 0 0 0.010818 0 0 KIF19 124602 broad.mit.edu 37 17 72338125 72338125 + Splice_Site SNP G G T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:72338125G>T ENST00000389916.4 + 3 369 c.231_splice c.e3+1 p.Q77_splice NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 77 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCGCCACCCAGGTGAGGGAGG 0.667000 29 81 2.65835e-16 3.32892e-16 0.007291 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51960800 51960800 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:51960800C>T ENST00000321424.3 - 2 714 c.648G>A c.(646-648)caG>caA p.Q216Q SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 216 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGCCGTGGTCCTGGGGCTTTG 0.652000 12 47 0 0 0.010729 0 0 MANSC1 54682 broad.mit.edu 37 12 12483803 12483803 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:12483803G>A ENST00000535902.1 - 4 1017 c.454C>T c.(454-456)Ccc>Tcc p.P152S MANSC1_ENST00000545735.1_Missense_Mutation_p.P71S|MANSC1_ENST00000396349.3_Missense_Mutation_p.P118S Q9H8J5 MANS1_HUMAN MANSC domain containing 1 152 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TGGGCTAGGGGAGTGACTGCT 0.428000 19 66 0 0 0.010504 0 0 CPAMD8 27151 broad.mit.edu 37 19 17017764 17017764 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:17017764C>T ENST00000443236.1 - 30 4197 c.4166G>A c.(4165-4167)cGa>cAa p.R1389Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1342 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACACCTACCTCGCATGATGGC 0.602000 4 13 0 0 0.009096 0 0 EMR1 2015 broad.mit.edu 37 19 6937272 6937272 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:6937272C>T ENST00000312053.4 + 19 2437 c.2400C>T c.(2398-2400)gcC>gcT p.A800A EMR1_ENST00000250572.8_Silent_p.A735A|EMR1_ENST00000381404.4_Silent_p.A781A|EMR1_ENST00000450315.3_Silent_p.A623A|EMR1_ENST00000381407.5_Silent_p.A659A NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 800 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CCTTCAAGGCCTTTGCCCAGC 0.537000 31 95 0 0 0.003271 0 0 AHNAK 79026 broad.mit.edu 37 11 62292211 62292211 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:62292211G>A ENST00000378024.4 - 5 9952 c.9678C>T c.(9676-9678)ctC>ctT p.L3226L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3226 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTTAAGATTGAGGTCCAAAT 0.408000 42 71 0 0 0.006230 0 0 GP2 2813 broad.mit.edu 37 16 20335568 20335568 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:20335568G>A ENST00000302555.5 - 3 254 c.105C>T c.(103-105)aaC>aaT p.N35N GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Silent_p.N35N P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 35 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CTTCAATGGGGTTTCCATAAC 0.522000 11 40 0 0 0.010729 0 0 KIF1B 23095 broad.mit.edu 37 1 10425692 10425692 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:10425692G>A ENST00000377086.1 + 43 4940 c.4738G>A c.(4738-4740)Gag>Aag p.E1580K KIF1B_ENST00000263934.6_Missense_Mutation_p.E1534K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1580K O60333 KIF1B_HUMAN kinesin family member 1B 1580 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CCGAGAGAAAGAGCTGGCTAC 0.493000 16 50 0 0 0.003163 0 0 RYR2 6262 broad.mit.edu 37 1 237791232 237791232 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:237791232C>T ENST00000366574.2 + 41 6609 c.6292C>T c.(6292-6294)Ctt>Ttt p.L2098F RYR2_ENST00000542537.1_Missense_Mutation_p.L2082F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2096F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2098 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATTGGGGGTCTTGTTCGGGC 0.572000 11 47 0 0 0.008291 0 0 ASXL3 80816 broad.mit.edu 37 18 31320012 31320012 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:31320012G>A ENST00000269197.5 + 11 2644 c.2644G>A c.(2644-2646)Gaa>Aaa p.E882K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 882 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TTCACCATTGGAATTATCTGT 0.373000 13 60 0 0 0.001855 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626557 1626557 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:1626557G>A ENST00000421627.2 + 9 2360 c.2226G>A c.(2224-2226)cgG>cgA p.R742R DLGAP2_ENST00000524065.1_3'UTR NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 821 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAACTGTACGGACCCAGGGGC 0.632000 11 37 0 0 0.008291 0 0 EPHA4 2043 broad.mit.edu 37 2 222308288 222308288 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:222308288G>A ENST00000281821.2 - 10 1854 c.1813C>T c.(1813-1815)Ccc>Tcc p.P605S EPHA4_ENST00000392071.4_Missense_Mutation_p.P554S|EPHA4_ENST00000409938.1_Missense_Mutation_p.P605S|EPHA4_ENST00000409854.1_Missense_Mutation_p.P605S NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 605 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GCTTGGTTGGGATCTTCGTAC 0.398000 13 44 0 0 0.003163 0 0 CCDC108 255101 broad.mit.edu 37 2 219894256 219894256 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:219894256C>T ENST00000341552.5 - 11 1602 c.1519G>A c.(1519-1521)Gag>Aag p.E507K CCDC108_ENST00000441968.1_Missense_Mutation_p.E507K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E507K|CCDC108_ENST00000410037.1_Missense_Mutation_p.E442K|CCDC108_ENST00000409865.3_Missense_Mutation_p.E496K NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 507 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGACACTCTCCAAGCAGTCG 0.597000 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 58 0 0 0.006122 0 0 SPTB 6710 broad.mit.edu 37 14 65239370 65239370 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:65239370G>A ENST00000389722.3 - 25 5534 c.5481C>T c.(5479-5481)gaC>gaT p.D1827D SPTB_ENST00000556626.1_Silent_p.D1827D|SPTB_ENST00000542895.1_Silent_p.D1827D|SPTB_ENST00000389721.5_Silent_p.D1827D|SPTB_ENST00000389720.3_Silent_p.D1827D NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1827 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCGTGCTGGCGTCCAGCCCCA 0.682000 24 75 0 0 0.006320 0 0 NAA25 80018 broad.mit.edu 37 12 112499075 112499075 + Silent SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:112499075A>G ENST00000261745.4 - 12 1515 c.1267T>C c.(1267-1269)Tta>Cta p.L423L NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 423 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AAGCCAAGTAACCTCGTCAGC 0.473000 15 28 0 0 0.002450 0 0 UGT2B15 7366 broad.mit.edu 37 4 69533889 69533889 + Missense_Mutation SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:69533889A>G ENST00000338206.5 - 2 751 c.742T>C c.(742-744)Ttt>Ctt p.F248L NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 248 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ATTGTCTCAAATAATGTAGTG 0.373000 22 65 0 0 0.006320 0 0 GFRAL 389400 broad.mit.edu 37 6 55216156 55216156 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:55216156G>A ENST00000340465.2 + 5 562 c.476G>A c.(475-477)gGa>gAa p.G159E NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 159 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCAGCAAATGGAAATCCGTGT 0.453000 60 141 0 0 0.014410 0 0 JPH1 56704 broad.mit.edu 37 8 75227537 75227537 + Missense_Mutation SNP G G A rs142292285 byFrequency TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:75227537G>A ENST00000342232.4 - 2 738 c.698C>T c.(697-699)tCg>tTg p.S233L NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 233 Ser-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GCGCTTGCTCGAGATGGAAGA 0.557000 20 103 0 0 0.008871 0 0 RELN 5649 broad.mit.edu 37 7 103338459 103338459 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:103338459C>T ENST00000424685.2 - 10 1143 c.984G>A c.(982-984)tgG>tgA p.W328* RELN_ENST00000428762.1_Nonsense_Mutation_p.W328*|RELN_ENST00000343529.5_Nonsense_Mutation_p.W328* P78509 RELN_HUMAN reelin 328 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTTCCTGCTTCCACTGAAATT 0.453000 33 109 0 0 0.010818 0 0 ASXL3 80816 broad.mit.edu 37 18 31323472 31323472 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr18:31323472C>T ENST00000269197.5 + 12 3660 c.3660C>T c.(3658-3660)acC>acT p.T1220T NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1220 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TTTCATCTACCTCTTCTGAAA 0.383000 15 36 0 0 0.002450 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354234 17354234 + RNA SNP C C T rs2652638 by1000genomes TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:17354234C>T ENST00000511821.1 + 0 101 FTH1P10_ENST00000401830.3_RNA CACACTCCATCGCATTCAGCC 0.468000 46 90 0 0 0.014410 0 0 CDON 50937 broad.mit.edu 37 11 125830842 125830842 + Missense_Mutation SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:125830842T>C ENST00000392693.3 - 20 3986 c.3859A>G c.(3859-3861)Acc>Gcc p.T1287A CDON_ENST00000531738.1_Missense_Mutation_p.T641A|CDON_ENST00000263577.7_Missense_Mutation_p.T1264A NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 1287 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TGTCCTCAGGTTTCCCGGGGC 0.537000 24 102 0 0 0.005443 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84603755 84603755 + Missense_Mutation SNP C C G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:84603755C>G ENST00000344803.2 + 1 69 c.22C>G c.(22-24)Ctg>Gtg p.L8V NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCTCTGTTTTCTGAACAGCTA 0.493000 11 62 0 0 0.013537 0 0 DRD5 1816 broad.mit.edu 37 4 9784435 9784435 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:9784435C>T ENST00000304374.2 + 1 1178 c.782C>T c.(781-783)tCc>tTc p.S261F NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 261 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) AGGATTTCCTCCCTGGAGAGG 0.627000 17 44 0 0 0.004007 0 0 OR6F1 343169 broad.mit.edu 37 1 247875470 247875470 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:247875470C>T ENST00000302084.2 - 1 635 c.588G>A c.(586-588)gaG>gaA p.E196E RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGCCACAAGCTCTACTGCCT 0.532000 70 82 0 0 0.014410 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880973 70880973 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:70880973C>T ENST00000333538.5 + 4 1322 c.688C>T c.(688-690)Cgc>Tgc p.R230C WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 230 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GATCCGCGCTCGCATTGAGGG 0.577000 15 64 0 0 0.003163 0 0 ARNTL 406 broad.mit.edu 37 11 13393916 13393916 + Missense_Mutation SNP C C G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:13393916C>G ENST00000389708.3 + 13 1382 c.1027C>G c.(1027-1029)Cgg>Ggg p.R343G ARNTL_ENST00000403510.3_Missense_Mutation_p.R299G|ARNTL_ENST00000396441.3_Missense_Mutation_p.R342G|ARNTL_ENST00000403290.1_Missense_Mutation_p.R343G|ARNTL_ENST00000403482.3_Missense_Mutation_p.R341G|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000401424.1_Missense_Mutation_p.R300G|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389707.4_Missense_Mutation_p.R342G O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 343 PAS 2. circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) ATATGTTTCTCGGCACGCGAT 0.443000 18 47 0 0 0.007413 0 0 ARID5A 10865 broad.mit.edu 37 2 97213176 97213176 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:97213176G>A ENST00000357485.3 + 2 120 c.42G>A c.(40-42)gaG>gaA p.E14E ARID5A_ENST00000454558.2_5'UTR NM_212481.1 NP_997646.1 Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 14 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 AGTCCACGGAGGGTGACGCCC 0.587000 13 33 0 0 0.003163 0 0 PLCB4 5332 broad.mit.edu 37 20 9404476 9404476 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:9404476C>T ENST00000378501.2 + 24 2380 c.2365C>T c.(2365-2367)Ctt>Ttt p.L789F PLCB4_ENST00000278655.4_Missense_Mutation_p.L789F|PLCB4_ENST00000414679.2_Missense_Mutation_p.L801F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.L789F|PLCB4_ENST00000378473.3_Missense_Mutation_p.L801F|PLCB4_ENST00000334005.3_Missense_Mutation_p.L789F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 789 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GATCCTCCCGCTTGATGGCCT 0.448000 8 24 0 0 0.003080 0 0 OR2M3 127062 broad.mit.edu 37 1 248367008 248367008 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:248367008C>T ENST00000456743.1 + 1 677 c.639C>T c.(637-639)atC>atT p.I213I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTGTTGCAATCATCATTGCTT 0.428000 101 194 0 0 0.014410 0 0 KIF21B 23046 broad.mit.edu 37 1 200946489 200946489 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:200946489C>T ENST00000332129.2 - 30 4453 c.4137G>A c.(4135-4137)gtG>gtA p.V1379V KIF21B_ENST00000461742.2_Silent_p.V1392V|KIF21B_ENST00000422435.2_Silent_p.V1392V|KIF21B_ENST00000360529.5_Silent_p.V1379V NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1392 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCCCTGAGATCACCTGGCCCG 0.582000 20 105 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179554041 179554041 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:179554041C>T ENST00000589042.1 - 124 32211 c.31987G>A c.(31987-31989)Gaa>Aaa p.E10663K TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9419K|TTN_ENST00000591111.1_Missense_Mutation_p.E10346K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10346 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAACTTCTTCCTCCTTCCGA 0.378000 10 53 0 0 0.008291 0 0 TRPC3 7222 broad.mit.edu 37 4 122846184 122846184 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr4:122846184C>T ENST00000264811.5 - 2 1364 c.946G>A c.(946-948)Gaa>Aaa p.E316K TRPC3_ENST00000513531.1_Missense_Mutation_p.E316K|TRPC3_ENST00000379645.3_Missense_Mutation_p.E389K NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 304 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTTTTGACTTCATACTTAATG 0.383000 24 53 0 0 0.003954 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 3 56 0 0 0.004672 0 0 OTC 5009 broad.mit.edu 37 X 38262956 38262956 + Missense_Mutation SNP C C T rs72558417 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:38262956C>T ENST00000039007.4 + 6 778 c.626C>T c.(625-627)gCg>gTg p.A209V TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 209 A -> V (in OTCD; neonatal). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) ATGAGCGCAGCGAAATTCGGA 0.478000 23 25 0 0 0.014323 0 0 SPTBN4 57731 broad.mit.edu 37 19 41026059 41026059 + Splice_Site SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:41026059G>A ENST00000352632.3 + 16 3740 c.e16+1 SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGTAACCAGGTGCCCACTCG 0.677000 10 22 0 0 0.006214 0 0 SELP 6403 broad.mit.edu 37 1 169580798 169580798 + Missense_Mutation SNP A A C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:169580798A>C ENST00000263686.6 - 7 1116 c.1079T>G c.(1078-1080)gTg>gGg p.V360G SELP_ENST00000367788.2_Missense_Mutation_p.V298G|SELP_ENST00000367794.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.V298G|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 360 Sushi 3. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAAGCCCCTCACTCTGTAGCC 0.537000 33 102 0 0 0.012213 0 0 SLC26A3 1811 broad.mit.edu 37 7 107431496 107431496 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:107431496G>A ENST00000340010.5 - 5 751 c.567C>T c.(565-567)atC>atT p.I189I SLC26A3_ENST00000422236.2_Silent_p.I154I NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 189 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TGCTCACCTGGATGATTCCAG 0.507000 7 18 0 0 0.001984 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854245 12854245 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:12854245G>A ENST00000332296.7 + 3 572 c.469G>A c.(469-471)Gaa>Aaa p.E157K NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 157 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCCTCAAGGAAATACCCCA 0.493000 55 282 0 0 0.014410 0 0 OR4K17 390436 broad.mit.edu 37 14 20586324 20586324 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:20586324C>T ENST00000315543.4 + 1 759 c.759C>T c.(757-759)ctC>ctT p.L253L NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GTCTGATCCTCATAACCATTA 0.423000 20 77 0 0 0.008871 0 0 SCN4A 6329 broad.mit.edu 37 17 62045702 62045702 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:62045702G>A ENST00000435607.1 - 6 793 c.717C>T c.(715-717)atC>atT p.I239I SCN4A_ENST00000578147.1_Silent_p.I239I NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 239 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGGCCCCCACGATCGTCTTCA 0.602000 21 33 0 0 0.012319 0 0 TMTC2 160335 broad.mit.edu 37 12 83251132 83251132 + Missense_Mutation SNP G G T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:83251132G>T ENST00000549919.1 + 3 2214 c.409G>T c.(409-411)Ggg>Tgg p.G137W TMTC2_ENST00000548305.1_Missense_Mutation_p.G143W|TMTC2_ENST00000321196.3_Missense_Mutation_p.G143W Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 143 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 AGCCGATGTCGGGGCCAGTCT 0.547000 11 27 2.27731e-05 2.81791e-05 0.012319 1 0 ALX3 257 broad.mit.edu 37 1 110603566 110603566 + Missense_Mutation SNP T T G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:110603566T>G ENST00000369792.4 - 4 908 c.821A>C c.(820-822)tAt>tCt p.Y274S RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_RNA NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 274 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGGTGGGAATATGGAGACAT 0.642000 5 23 0 0 0.000602 0 0 CACNG5 27091 broad.mit.edu 37 17 64880639 64880639 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:64880639C>T ENST00000533854.1 + 5 668 c.431C>T c.(430-432)tCt>tTt p.S144F CACNG5_ENST00000169565.3_Missense_Mutation_p.S144F|CACNG5_ENST00000307139.3_Missense_Mutation_p.S144F Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 144 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CCAGGCCTCTCTCTCGTGGTG 0.567000 18 56 0 0 0.008871 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196382 102196382 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:102196382C>T ENST00000306176.1 + 11 1316 c.1216C>T c.(1216-1218)Ctg>Ttg p.L406L ZPLD1_ENST00000466937.1_Silent_p.L390L|ZPLD1_ENST00000491959.1_Silent_p.L390L NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 390 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 TTCTCTTCTTCTGTGCTCACT 0.488000 56 146 0 0 0.014410 0 0 ASB10 136371 broad.mit.edu 37 7 150883923 150883923 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:150883923G>A ENST00000422024.1 - 1 555 c.430C>T c.(430-432)Cgc>Tgc p.R144C ASB10_ENST00000420175.2_Missense_Mutation_p.R99C|ASB10_ENST00000275838.1_Missense_Mutation_p.R99C|ASB10_ENST00000434669.1_Missense_Mutation_p.R144C|ASB10_ENST00000377867.3_Intron NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 99 intracellular signal transduction p.R99C(2) NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATGTTGAAGCGGAAATCCCTC 0.637000 5 27 0 0 0.000602 0 0 GALNT5 11227 broad.mit.edu 37 2 158115963 158115963 + Nonsense_Mutation SNP A A T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:158115963A>T ENST00000259056.4 + 1 1854 c.1369A>T c.(1369-1371)Aga>Tga p.R457* NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 457 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GGAGGCAGAAAGAAGATGGAA 0.478000 13 56 0 0 0.013537 0 0 GRIP2 80852 broad.mit.edu 37 3 14552688 14552688 + RNA SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:14552688C>T ENST00000273083.3 - 0 1982 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TTGTCCTCGTCCTTCCGGATC 0.597000 7 24 0 0 0.001984 0 0 GRM7 2917 broad.mit.edu 37 3 7728062 7728062 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:7728062G>A ENST00000486284.1 + 10 2991 c.2717G>A c.(2716-2718)aGa>aAa p.R906K GRM7_ENST00000402647.2_Missense_Mutation_p.R906K|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 0 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) CCACCAGTAAGAAAGAGTGTA 0.294000 9 41 0 0 0.010729 0 0 ADAM7 8756 broad.mit.edu 37 8 24350600 24350600 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:24350600C>T ENST00000175238.6 + 16 1783 c.1700C>T c.(1699-1701)tCc>tTc p.S567F RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S567F|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.S339F|RP11-561E1.1_ENST00000519364.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 567 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGGGAGCTTTCCTCTCTCCTT 0.393000 19 63 0 0 0.012319 0 0 PRDM9 56979 broad.mit.edu 37 5 23527787 23527787 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr5:23527787G>A ENST00000296682.3 + 11 2772 c.2590G>A c.(2590-2592)Gag>Aag p.E864K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 864 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CGTCTGCAGGGAGTGTGGGCG 0.582000 HNSCC(3;0.000094) 24 86 0 0 0.003330 0 0 KMT2C 58508 broad.mit.edu 37 7 151962163 151962163 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:151962163C>T ENST00000355193.2 - 8 1362 c.1144G>A c.(1144-1146)Ggt>Agt p.G382S KMT2C_ENST00000262189.6_Missense_Mutation_p.G382S lysine (K)-specific methyltransferase 2C CATTGCCAACCTGCACGTTTT 0.443000 9 223 0 0 0.010729 0 0 LEO1 123169 broad.mit.edu 37 15 52230438 52230438 + Missense_Mutation SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:52230438T>C ENST00000299601.5 - 12 1976 c.1916A>G c.(1915-1917)aAg>aGg p.K639R LEO1_ENST00000315141.5_Missense_Mutation_p.K579R NM_138792.2 NP_620147.1 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 639 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 14 all cancers(107;0.00264) TGCTTTTCTCTTTCCGGAAGG 0.323000 4 11 0 0 0.000602 0 0 WFDC8 90199 broad.mit.edu 37 20 44190781 44190781 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:44190781C>T ENST00000357199.4 - 2 182 c.104G>A c.(103-105)tGg>tAg p.W35* WFDC8_ENST00000289953.2_Nonsense_Mutation_p.W35* NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 35 extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TGCAGAAGTCCACTCCAAAGC 0.478000 8 31 0 0 0.006214 0 0 OR4P4 81300 broad.mit.edu 37 11 55406375 55406375 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:55406375C>T ENST00000314612.2 + 1 542 c.542C>T c.(541-543)cCt>cTt p.P181L NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 GATGTGTATCCTTTGCTGAAA 0.388000 7 52 0 0 0.001984 0 0 COL11A1 1301 broad.mit.edu 37 1 103405961 103405961 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:103405961C>T ENST00000358392.2 - 43 3659 c.3342G>A c.(3340-3342)ggG>ggA p.G1114G COL11A1_ENST00000512756.1_Silent_p.G986G|COL11A1_ENST00000370096.3_Silent_p.G1102G|COL11A1_ENST00000353414.4_Silent_p.G1063G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1102 Triple-helical region. Missing (in STL2). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCCATCTCTCCCTGCAGGCC 0.478000 19 63 0 0 0.008871 0 0 ADAM28 10863 broad.mit.edu 37 8 24167701 24167701 + Missense_Mutation SNP G G C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:24167701G>C ENST00000265769.4 + 4 363 c.253G>C c.(253-255)Gaa>Caa p.E85Q RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.E85Q|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 85 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGGCTACACGGAAACATATTA 0.398000 3 14 0 0 0.009096 0 0 PCLO 27445 broad.mit.edu 37 7 82451966 82451966 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:82451966G>A ENST00000423517.2 - 20 14973 c.14636C>T c.(14635-14637)cCt>cTt p.P4879L PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.P4879L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4741 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGAGCTACCAGGACTACTATG 0.468000 60 187 0 0 0.014410 0 0 SLC8B1 80024 broad.mit.edu 37 12 113748108 113748108 + Silent SNP G G A rs138371135 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:113748108G>A ENST00000552014.1 - 13 1703 c.1188C>T c.(1186-1188)atC>atT p.I396I SLC24A6_ENST00000546737.1_Silent_p.I340I|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.I396I Q6J4K2 NCKX6_HUMAN 396 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity p.I396I(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CTGTGCCTGCGATCACCACCA 0.587000 24 58 0 0 0.003954 0 0 ZNF174 7727 broad.mit.edu 37 16 3454957 3454957 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:3454957C>T ENST00000344823.5 + 3 1435 c.674C>T c.(673-675)cCa>cTa p.P225L ZNF174_ENST00000572544.1_3'UTR|ZNF174_ENST00000571936.1_Intron|ZNF174_ENST00000575752.1_Missense_Mutation_p.P225L|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000268655.4_Intron NM_001032292.2 NP_001027463.1 Q15697 ZN174_HUMAN zinc finger protein 174 0 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 GATGAACTTCCATGCAAGCTA 0.403000 9 40 0 0 0.006214 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679284 176679284 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:176679284C>T ENST00000367662.3 + 11 4787 c.3623C>T c.(3622-3624)tCc>tTc p.S1208F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1208 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTCCTGTTTCCTTGGTAACT 0.463000 21 93 0 0 0.003330 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23054697 23054697 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:23054697C>T ENST00000221132.3 - 9 1099 c.1035G>A c.(1033-1035)ggG>ggA p.G345G NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 345 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCCTCTGAGACCCTTCAGCTT 0.557000 30 76 0 0 0.009535 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75560500 75560500 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:75560500G>A ENST00000604729.1 + 24 5402 c.5105G>A c.(5104-5106)gGg>gAg p.G1702E ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G1664E|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G1523E|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G1710E|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.G1705E zinc finger, SWIM-type containing 8 TGGTTGCTGGGGCTGGCAGCA 0.612000 15 21 0 0 0.004007 0 0 BTBD7 55727 broad.mit.edu 37 14 93712562 93712562 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:93712562C>T ENST00000334746.5 - 10 2499 c.2192G>A c.(2191-2193)gGg>gAg p.G731E BTBD7_ENST00000554565.1_Missense_Mutation_p.G380E|BTBD7_ENST00000393170.2_Missense_Mutation_p.G305E NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 731 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCGACATCTCCCAGGCTGTCT 0.443000 42 141 0 0 0.007835 0 0 LACE1 246269 broad.mit.edu 37 6 108687531 108687531 + Missense_Mutation SNP C C A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:108687531C>A ENST00000368977.4 + 6 929 c.743C>A c.(742-744)cCg>cAg p.P248Q NM_145315.3 NP_660358.2 Q8WV93 LACE1_HUMAN lactation elevated 1 248 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AACAGGCCACCGGAAGGTAAA 0.373000 3 34 0.004672 0.00571327 0.004672 1 0 DUOX2 50506 broad.mit.edu 37 15 45401086 45401086 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:45401086G>A ENST00000389039.6 - 12 1684 c.1299C>T c.(1297-1299)ggC>ggT p.G433G DUOX2_ENST00000603300.1_Silent_p.G433G Q9NRD8 DUOX2_HUMAN dual oxidase 2 433 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCATATCTCGGCCACGTTGGA 0.567000 30 65 0 0 0.009535 0 0 EFHD2 79180 broad.mit.edu 37 1 15752487 15752487 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:15752487C>T ENST00000375980.4 + 2 506 c.429C>T c.(427-429)gaC>gaT p.D143D NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 143 EF-hand 2. membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TGGATGAGGACTTTGACAGCA 0.592000 12 58 0 0 0.010729 0 0 MAG 4099 broad.mit.edu 37 19 35801452 35801452 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:35801452C>T ENST00000361922.4 + 9 1672 c.1522C>T c.(1522-1524)Cga>Tga p.R508* MAG_ENST00000537831.2_Nonsense_Mutation_p.R483*|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Nonsense_Mutation_p.R508* NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 508 Ig-like C2-type 4. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GTCCTCAGATCGACTGATGTG 0.562000 12 44 0 0 0.010729 0 0 VWA7 80737 broad.mit.edu 37 6 31735259 31735259 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:31735259G>A ENST00000375686.3 - 12 1906 c.1669C>T c.(1669-1671)Cct>Tct p.P557S VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.P557S|VWA7_ENST00000447450.1_Missense_Mutation_p.P557S NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 557 extracellular region TGACCTAGAGGACCCCCGCCT 0.582000 93 232 0 0 0.014410 0 0 C16orf46 123775 broad.mit.edu 37 16 81095571 81095571 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:81095571C>T ENST00000378611.4 - 3 498 c.383G>A c.(382-384)aGc>aAc p.S128N C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.S128N|RP11-303E16.8_ENST00000564536.1_RNA NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 128 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GGAGGGGCTGCTCTGATCCTT 0.602000 41 103 0 0 0.006230 0 0 RPTOR 57521 broad.mit.edu 37 17 78867523 78867523 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:78867523G>A ENST00000306801.3 + 20 2621 c.2259G>A c.(2257-2259)gcG>gcA p.A753A RPTOR_ENST00000544334.2_Silent_p.A595A|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 753 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GCGCGGTGGCGTTCTCCCCCG 0.607000 21 38 0 0 0.008871 0 0 TMEM125 128218 broad.mit.edu 37 1 43739005 43739005 + Silent SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:43739005T>C ENST00000432792.2 + 4 1182 c.612T>C c.(610-612)tcT>tcC p.S204S TMEM125_ENST00000439858.1_Silent_p.S204S Q96AQ2 TM125_HUMAN transmembrane protein 125 204 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GACAGTTGTCTGCTGGCCGGC 0.632000 8 24 0 0 0.003080 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 3 51 0 0 0.009096 0 0 MDGA2 161357 broad.mit.edu 37 14 47504453 47504453 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:47504453C>T ENST00000426342.1 - 8 1432 c.686G>A c.(685-687)gGa>gAa p.G229E MDGA2_ENST00000357362.3_Missense_Mutation_p.G229E|MDGA2_ENST00000399232.2_Missense_Mutation_p.G527E|MDGA2_ENST00000439988.2_Missense_Mutation_p.G458E NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 458 Ig-like 2. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TATTGTGTCTCCTTCTCTGGT 0.398000 26 62 0 0 0.005443 0 0 CREBBP 1387 broad.mit.edu 37 16 3828061 3828061 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:3828061C>T ENST00000262367.5 - 10 2873 c.2064G>A c.(2062-2064)ccG>ccA p.P688P CREBBP_ENST00000382070.3_Silent_p.P650P NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 688 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.A690fs*5(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCTGAGCCCCCGGGGCTGGTA 0.483000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 60 156 0 0 0.014410 0 0 CR1 1378 broad.mit.edu 37 1 207737264 207737264 + Missense_Mutation SNP C C A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:207737264C>A ENST00000367049.4 + 22 3642 c.3642C>A c.(3640-3642)gaC>gaA p.D1214E CR1_ENST00000367053.1_Missense_Mutation_p.D764E|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.D764E|CR1_ENST00000400960.2_Missense_Mutation_p.D764E NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 764 Sushi 19. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GGGACAAGGACAACTTTTCAC 0.547000 12 96 0.00152264 0.00187298 0.010504 1 0 PRR14 78994 broad.mit.edu 37 16 30664259 30664259 + Silent SNP T T C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:30664259T>C ENST00000542965.2 + 4 795 c.339T>C c.(337-339)tgT>tgC p.C113C PRR14_ENST00000300835.4_Silent_p.C113C Q9BWN1 PRR14_HUMAN proline rich 14 113 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) TGTGTTTGTGTCGCGAGCCCT 0.627000 15 48 0 0 0.004990 0 0 BCKDHA 593 broad.mit.edu 37 19 41916548 41916548 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:41916548C>T ENST00000269980.2 + 2 483 c.115C>T c.(115-117)Ccc>Tcc p.P39S BCKDHA_ENST00000595085.1_Missense_Mutation_p.P73S|BCKDHA_ENST00000457836.2_Intron|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.P73S NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 39 P -> H (in dbSNP:rs34589432). branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding p.P39T(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 CCAGCACCCCCCCAGGCAGCA 0.607000 15 49 0 0 0.007413 0 0 PELP1 27043 broad.mit.edu 37 17 4576337 4576337 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:4576337G>A ENST00000301396.4 - 16 2606 c.2381C>T c.(2380-2382)cCa>cTa p.P794L PELP1_ENST00000436683.2_Missense_Mutation_p.P503L|PELP1_ENST00000269230.7_Missense_Mutation_p.P562L|PELP1_ENST00000574876.1_Missense_Mutation_p.P650L|PELP1_ENST00000572293.1_Missense_Mutation_p.P700L Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 650 Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 AGGGGGAACTGGAGCAGGTGT 0.682000 14 49 0 0 0.001855 0 0 PDILT 204474 broad.mit.edu 37 16 20380984 20380984 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr16:20380984C>T ENST00000302451.4 - 8 1194 c.946G>A c.(946-948)Gaa>Aaa p.E316K NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 316 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.E316K(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTCTGGGTTCGTCTGCATCC 0.473000 24 66 0 0 0.003330 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3682122 3682122 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:3682122G>A ENST00000344754.4 - 6 1394 c.1395C>T c.(1393-1395)ttC>ttT p.F465F SIGLEC1_ENST00000202578.4_Silent_p.F465F NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 465 Ig-like C2-type 4. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGGTACCACTGAAGCGTGGGC 0.602000 32 66 0 0 0.010818 0 0 HECTD4 283450 broad.mit.edu 37 12 112631297 112631297 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:112631297C>T ENST00000550722.1 - 57 8888 c.8493G>A c.(8491-8493)acG>acA p.T2831T HECTD4_ENST00000377560.5_Silent_p.T2805T|HECTD4_ENST00000430131.2_Silent_p.T2555T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGATCTGTTTCGTCAGCTCTA 0.517000 4 14 0 0 0.000602 0 0 BAGE2 85319 broad.mit.edu 37 21 11049490 11049490 + RNA SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr21:11049490C>T ENST00000470054.1 - 0 618 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATTGCCAACCTGCACGTTTT 0.448000 5 90 0 0 0.001984 0 0 BSND 7809 broad.mit.edu 37 1 55465016 55465016 + Missense_Mutation SNP A A C TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:55465016A>C ENST00000371265.4 + 1 411 c.157A>C c.(157-159)Atg>Ctg p.M53L NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 53 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CATCTGGAGCATGTGCCAGTG 0.632000 17 47 0 0 0.007413 0 0 OR5P2 120065 broad.mit.edu 37 11 7818469 7818469 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:7818469C>T ENST00000329434.2 - 1 51 c.21G>A c.(19-21)ggG>ggA p.G7G RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 7 G -> R (in dbSNP:rs1482804). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGGTGTGATTCCCGTCCTTCA 0.428000 8 41 0 0 0.003080 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917490 48917490 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:48917490G>A ENST00000311378.4 + 2 1369 c.841G>A c.(841-843)Gat>Aat p.D281N RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.D188N NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 281 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCAGCTGCAGGATGCTGGGAT 0.622000 21 40 0 0 0.012319 0 0 BCL11B 64919 broad.mit.edu 37 14 99640620 99640620 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:99640620C>T ENST00000345514.2 - 3 2606 c.2340G>A c.(2338-2340)aaG>aaA p.K780K BCL11B_ENST00000357195.3_Silent_p.K851K|BCL11B_ENST00000443726.2_Silent_p.K657K NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 851 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GGTACACCTCCTTGCCGATCT 0.602000 T TLX3 T-ALL 13 27 0 0 0.001855 0 0 FREM1 158326 broad.mit.edu 37 9 14859389 14859389 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr9:14859389C>T ENST00000380881.4 - 5 1238 c.423G>A c.(421-423)gtG>gtA p.V141V FREM1_ENST00000422223.2_Silent_p.V141V|FREM1_ENST00000380880.3_Silent_p.V141V Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 141 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GCACCTCCAGCACATTGTTAC 0.428000 43 85 0 0 0.010771 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080485 178080485 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:178080485G>A ENST00000411529.2 + 3 188 c.137G>A c.(136-138)aGa>aAa p.R46K HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R68K|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R68K NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 68 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 TAGGTAATGAGAGACCCCCAA 0.428000 17 51 0 0 0.006122 0 0 BMX 660 broad.mit.edu 37 X 15544165 15544165 + Splice_Site SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chrX:15544165G>A ENST00000357607.2 + 9 1019 c.830_splice c.e9-1 p.W277_splice BMX_ENST00000342014.6_Splice_Site_p.W277_splice|BMX_ENST00000348343.6_Splice_Site_p.W277_splice P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 277 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TCTTCTTAAGGGAATTCCCTG 0.388000 10 28 0 0 0.008291 0 0 SART3 9733 broad.mit.edu 37 12 108919970 108919970 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr12:108919970G>A ENST00000228284.3 - 16 2510 c.2276C>T c.(2275-2277)gCc>gTc p.A759V SART3_ENST00000431469.2_Missense_Mutation_p.A723V NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 759 RRM 1. RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 TGCCTGAAGGGCTGATTTCTC 0.512000 Porokeratosis 29 91 0 0 0.007291 0 0 BSN 8927 broad.mit.edu 37 3 49693943 49693943 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr3:49693943C>T ENST00000296452.4 + 5 7068 c.6954C>T c.(6952-6954)gcC>gcT p.A2318A NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2318 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCCTGCTGCCATCAAGGAGG 0.687000 10 28 0 0 0.008291 0 0 FXYD3 5349 broad.mit.edu 37 19 35611987 35611987 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:35611987C>T ENST00000435734.2 + 5 305 c.46C>T c.(46-48)Cct>Tct p.P16S FXYD3_ENST00000604621.1_Missense_Mutation_p.P16S|FXYD3_ENST00000344013.6_Missense_Mutation_p.P16S|FXYD3_ENST00000454903.2_Missense_Mutation_p.P16S|FXYD3_ENST00000604404.1_Missense_Mutation_p.P16S|FXYD3_ENST00000603524.1_Missense_Mutation_p.P16S|FXYD3_ENST00000406988.1_Missense_Mutation_p.P16S|FXYD3_ENST00000604255.1_Missense_Mutation_p.P73S|FXYD3_ENST00000346446.5_Missense_Mutation_p.P16S|FXYD3_ENST00000603449.1_Missense_Mutation_p.P16S|FXYD3_ENST00000535103.1_Missense_Mutation_p.P73S|FXYD3_ENST00000605550.1_Missense_Mutation_p.P16S|FXYD3_ENST00000605552.1_Missense_Mutation_p.P16S|FXYD3_ENST00000605677.1_Missense_Mutation_p.P16S|FXYD3_ENST00000406242.3_Missense_Mutation_p.P16S|FXYD3_ENST00000604804.1_Missense_Mutation_p.P16S|FXYD3_ENST00000603181.1_Missense_Mutation_p.P16S NM_001136011.1|NM_021910.2 NP_001129483.1|NP_068710.1 Q14802 FXYD3_HUMAN FXYD domain containing ion transport regulator 3 16 chloride channel complex|integral to plasma membrane chloride channel activity endometrium(1)|lung(2)|prostate(1) 4 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) ACTAGGCTTTCCTGTCCTGGA 0.612000 16 39 0 0 0.004007 0 0 VPS13B 157680 broad.mit.edu 37 8 100789097 100789097 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:100789097C>T ENST00000358544.2 + 41 7528 c.7417C>T c.(7417-7419)Cca>Tca p.P2473S VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P2448S NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2473 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTGCTTTACCCCATGGTTTGT 0.483000 33 99 0 0 0.013726 0 0 NFIX 4784 broad.mit.edu 37 19 13136228 13136228 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:13136228C>T ENST00000358552.3 + 1 418 c.418C>T c.(418-420)Ccc>Tcc p.P140S NFIX_ENST00000360105.4_Missense_Mutation_p.P144S|NFIX_ENST00000397661.2_Missense_Mutation_p.P141S|NFIX_ENST00000588228.1_Missense_Mutation_p.P94S|NFIX_ENST00000587260.1_Missense_Mutation_p.P140S|NFIX_ENST00000592199.1_Missense_Mutation_p.P141S|NFIX_ENST00000585575.1_Missense_Mutation_p.P133S|NFIX_ENST00000587760.1_Missense_Mutation_p.P133S Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 141 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) TAAGGGGATCCCCCTGGAAAG 0.587000 9 32 0 0 0.006214 0 0 ACTG2 72 broad.mit.edu 37 2 74135895 74135895 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr2:74135895G>A ENST00000409624.1 + 5 994 c.351G>A c.(349-351)agG>agA p.R117R ACTG2_ENST00000409731.3_Silent_p.R74R|ACTG2_ENST00000345517.3_Silent_p.R117R P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 117 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 AGGCCAACAGGGAAAAGATGA 0.507000 5 22 0 0 0.000602 0 0 OR4M1 441670 broad.mit.edu 37 14 20248811 20248811 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr14:20248811G>A ENST00000315957.4 + 1 411 c.330G>A c.(328-330)tcG>tcA p.S110S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S110S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGGGGCTTCGGAGATGTTCT 0.483000 44 292 0 0 0.010771 0 0 NPAP1 23742 broad.mit.edu 37 15 24922085 24922085 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr15:24922085C>T ENST00000329468.2 + 1 1545 c.1071C>T c.(1069-1071)ctC>ctT p.L357L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTGCTAAGCTCCCCTGCCTGT 0.527000 11 33 0 0 0.010729 0 0 AADACL4 343066 broad.mit.edu 37 1 12726684 12726684 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:12726684C>T ENST00000376221.1 + 4 1162 c.1162C>T c.(1162-1164)Ctc>Ttc p.L388F NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 388 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TAAGAAGGCTCTCTCTTTCCC 0.478000 15 70 0 0 0.004990 0 0 DNAH2 146754 broad.mit.edu 37 17 7720944 7720944 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:7720944C>T ENST00000572933.1 + 66 11546 c.10086C>T c.(10084-10086)acC>acT p.T3362T DNAH2_ENST00000389173.2_Silent_p.T3362T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3362 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCAATCCTACCAAAGTCCGGG 0.547000 39 70 0 0 0.005524 0 0 TNNT3 7140 broad.mit.edu 37 11 1955597 1955597 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:1955597G>A ENST00000381558.1 + 11 657 c.378G>A c.(376-378)aaG>aaA p.K126K TNNT3_ENST00000381561.4_Silent_p.K137K|TNNT3_ENST00000397301.1_Silent_p.K145K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Silent_p.K126K|TNNT3_ENST00000278317.6_Silent_p.K134K|TNNT3_ENST00000381579.3_Silent_p.K126K|TNNT3_ENST00000397304.2_Silent_p.K115K|TNNT3_ENST00000381548.3_Silent_p.K136K|TNNT3_ENST00000446240.1_Silent_p.K115K|TNNT3_ENST00000381589.3_Silent_p.K132K|TNNT3_ENST00000360603.3_Silent_p.K128K P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 145 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGGATGCCAAGAGGAGGGCAG 0.577000 11 32 0 0 0.013537 0 0 SNAP91 9892 broad.mit.edu 37 6 84375262 84375262 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr6:84375262G>A ENST00000428679.2 - 3 762 c.169C>T c.(169-171)Cct>Tct p.P57S SNAP91_ENST00000521743.1_Missense_Mutation_p.P57S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P57S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P57S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P57S|SNAP91_ENST00000439399.2_Missense_Mutation_p.P57S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P57S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P57S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P57S O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 57 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GCCATCTGAGGAATATTAACA 0.373000 23 79 0 0 0.014323 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667701 70667701 + Missense_Mutation SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:70667701C>T ENST00000260126.3 - 4 1922 c.1216G>A c.(1216-1218)Gac>Aac p.D406N SLCO5A1_ENST00000524945.1_Missense_Mutation_p.D406N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.D406N NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 406 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ACTTTTTTGTCCGCTTGTTCA 0.373000 3 31 0 0 0.009096 0 0 CLCNKB 1188 broad.mit.edu 37 1 16381937 16381937 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr1:16381937G>A ENST00000375679.4 + 17 1875 c.1764G>A c.(1762-1764)caG>caA p.Q588Q CLCNKB_ENST00000375667.3_Silent_p.Q419Q NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CAGAGTCCCAGATCCTGGTGG 0.587000 13 28 0 0 0.004007 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48599398 48599398 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr17:48599398G>A ENST00000323776.5 + 10 1504 c.1342G>A c.(1342-1344)Ggg>Agg p.G448R MYCBPAP_ENST00000436259.2_Missense_Mutation_p.G411R NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 411 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GCTGTTCTGTGGGAAGCCAGC 0.537000 28 53 0 0 0.009535 0 0 ADAM28 10863 broad.mit.edu 37 8 24167700 24167700 + Silent SNP G G A rs150620720 TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:24167700G>A ENST00000265769.4 + 4 362 c.252G>A c.(250-252)acG>acA p.T84T RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Silent_p.T84T|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 84 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CAGGCTACACGGAAACATATT 0.398000 3 14 0 0 0.009096 0 0 ZNF226 7769 broad.mit.edu 37 19 44680393 44680393 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr19:44680393G>A ENST00000590089.1 + 7 1345 c.978G>A c.(976-978)caG>caA p.Q326Q ZNF226_ENST00000454662.2_Silent_p.Q326Q|ZNF226_ENST00000337433.5_Silent_p.Q326Q|ZNF226_ENST00000588883.1_3'UTR Q9NYT6 ZN226_HUMAN zinc finger protein 226 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) AGACCCATCAGAAAGTCCACG 0.438000 10 53 0 0 0.008291 0 0 ZBTB46 140685 broad.mit.edu 37 20 62384102 62384102 + Silent SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr20:62384102G>A ENST00000245663.4 - 4 1485 c.1335C>T c.(1333-1335)ccC>ccT p.P445P ZBTB46_ENST00000302995.2_Silent_p.P445P|ZBTB46_ENST00000395104.1_Silent_p.P445P NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CGCAGGGGTAGGGCCGCTCTC 0.652000 12 20 0 0 0.013537 0 0 VWA5A 4013 broad.mit.edu 37 11 123993723 123993723 + Missense_Mutation SNP G G A TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr11:123993723G>A ENST00000456829.2 + 8 1068 c.817G>A c.(817-819)Gat>Aat p.D273N VWA5A_ENST00000392748.1_Missense_Mutation_p.D273N|VWA5A_ENST00000392744.4_Missense_Mutation_p.D289N|VWA5A_ENST00000449321.1_Missense_Mutation_p.D273N|VWA5A_ENST00000360334.4_Missense_Mutation_p.D273N|VWA5A_ENST00000361352.5_Missense_Mutation_p.D273N NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 273 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TATCCCAGAAGATCAACCATC 0.443000 10 33 0 0 0.010729 0 0 OSBPL3 26031 broad.mit.edu 37 7 24932210 24932211 + Translation_Start_Site INS - - T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr7:24932210_24932211insT ENST00000313367.2 - 0 332_333 OSBPL3_ENST00000353930.1_De_novo_Start_InFrame|OSBPL3_ENST00000352860.1_De_novo_Start_InFrame|OSBPL3_ENST00000431825.2_De_novo_Start_InFrame|OSBPL3_ENST00000396431.1_De_novo_Start_InFrame NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TTTAAAAAACATTTTGGGTGGC 0.416 2 4 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 4 5 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104600 102104601 + RNA INS - - T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:102104600_102104601insT ENST00000429420.1 - 0 103 AAAAATCACAAttttttttttt 0.401 3 4 --- --- --- --- PLEKHA1 59338 broad.mit.edu 37 10 124152792 124152792 + Frame_Shift_Del DEL C C - TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48071b95-d9e0-43ff-81ed-a2b96484d5cb 3885b3d5-ce64-4f80-95ad-7aec6023433f g.chr10:124152792delC ENST00000368988.1 + 2 199 c.76delC c.(76-78)ttfs p.L26fs PLEKHA1_ENST00000368989.2_Frame_Shift_Del_p.L26fs|PLEKHA1_ENST00000433307.1_Frame_Shift_Del_p.L26fs|PLEKHA1_ENST00000538022.1_Frame_Shift_Del_p.L26fs|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368990.3_Frame_Shift_Del_p.L26fs Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 26 PH 1. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGGAAATTTCTTCGAAGGTA 0.368 15 29 --- --- --- ---