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 MBD3 53615 broad.mit.edu 37 19 1578380 1578380 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:1578380C>T ENST00000590550.2 - 5 1040 c.667G>A c.(667-669)Gag>Aag p.E223K MBD3_ENST00000434436.3_Missense_Mutation_p.E279K|MBD3_ENST00000156825.1_Missense_Mutation_p.E279K|MBD3_ENST00000592012.1_Missense_Mutation_p.E247K O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 279 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) GGctcctcctcctcctcctcc 0.716000 20 47 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540211 133540211 + Missense_Mutation SNP G G T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:133540211G>T ENST00000409261.1 - 14 4546 c.4173C>A c.(4171-4173)ttC>ttA p.F1391L NCKAP5_ENST00000317721.6_Missense_Mutation_p.F1391L|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1391 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTCCCTGGGTGAAGGCCTGCT 0.602000 20 62 8.34094e-07 8.41198e-07 1 1 0 TUBGCP2 10844 broad.mit.edu 37 10 135095785 135095785 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:135095785G>A ENST00000368563.2 - 16 2707 c.2351C>T c.(2350-2352)aCc>aTc p.T784I TUBGCP2_ENST00000543663.1_Missense_Mutation_p.T812I|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.T784I|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.T654I|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.T377I NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 784 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CCCCAGGACGGTGCTGTGCTC 0.622000 14 22 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498844 118498844 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:118498844C>T ENST00000361417.2 + 7 1716 c.1305C>T c.(1303-1305)acC>acT p.T435T PHLDB1_ENST00000356063.5_Silent_p.T435T NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 435 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGTTAGCCACCCGTACCCTGC 0.642000 88 181 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 95034772 95034772 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:95034772G>A ENST00000377047.4 + 7 1872 c.1257G>A c.(1255-1257)gaG>gaA p.E419E NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 419 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CGTCCAACGAGGAGGAATGCT 0.542000 31 97 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679691 160679691 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:160679691G>A ENST00000366952.1 - 3 1517 c.36C>T c.(34-36)ttC>ttT p.F12F SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.F33F O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 33 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) AGATGGGCGCGAAGGTAGCCG 0.612000 41 59 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49724043 49724043 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:49724043G>A ENST00000303221.5 - 2 346 c.131C>T c.(130-132)cCa>cTa p.P44L EMB_ENST00000508934.1_Missense_Mutation_p.P44L|EMB_ENST00000514111.1_5'UTR|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 44 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) TCTGAGAGGTGGACTTGTAAA 0.323000 24 64 0 0 1 0 0 ZNF655 79027 broad.mit.edu 37 7 99170003 99170003 + Missense_Mutation SNP A A C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:99170003A>C ENST00000424881.1 + 4 597 c.377A>C c.(376-378)aAg>aCg p.K126T ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.K91T|ZNF655_ENST00000493277.1_Missense_Mutation_p.K126T|ZNF655_ENST00000394163.2_Missense_Mutation_p.K91T NM_001083956.1|NM_001085368.1 NP_001077425.1|NP_001078837.1 Q8N720 ZN655_HUMAN zinc finger protein 655 91 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GAAGTGTATAAGTCTGAGGAC 0.393000 23 65 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35993386 35993386 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:35993386C>T ENST00000297866.5 + 14 2443 c.2377C>T c.(2377-2379)Cag>Tag p.Q793* NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 793 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AGAAGAACTTCAGAAGACCAA 0.343000 48 36 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156914894 156914894 + Missense_Mutation SNP G G A rs140673049 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:156914894G>A ENST00000368194.3 - 30 3947 c.2908C>T c.(2908-2910)Cgc>Tgc p.R970C ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R346C|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R930C NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 930 PH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AAACGGTGGCGGTTCTCTGTT 0.597000 64 273 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603504 5603504 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:5603504G>A ENST00000423158.3 + 2 375 c.163G>A c.(163-165)Gat>Aat p.D55N NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.D42N NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 42 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 GATCCAGGCAGATATTTTGAA 0.493000 37 99 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179465714 179465714 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179465714C>T ENST00000589042.1 - 288 56141 c.55917G>A c.(55915-55917)gtG>gtA p.V18639V TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V9699V|TTN_ENST00000342992.6_Silent_p.V16071V|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.V9766V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V16998V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.V9574V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16998 Fibronectin type-III 35. 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) GCAGTTCTTCCACATCACGCT 0.498000 58 189 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949624 7949624 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:7949624C>T ENST00000309838.2 - 1 585 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 196 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) GCATAGATTTCAAACAAAAAC 0.383000 24 69 0 0 1 0 0 TRIM40 135644 broad.mit.edu 37 6 30114951 30114951 + Silent SNP A A C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:30114951A>C ENST00000396581.1 + 4 1017 c.631A>C c.(631-633)Agg>Cgg p.R211R TRIM40_ENST00000376724.2_Silent_p.R211R|TRIM40_ENST00000307859.4_Silent_p.R182R Q6P9F5 TRI40_HUMAN tripartite motif containing 40 211 intracellular zinc ion binding ovary(1) 1 TGATCTGGAAAGGACGGCCAA 0.572000 54 149 0 0 1 0 0 MIR520A 574467 broad.mit.edu 37 19 54194150 54194150 + RNA SNP T T C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:54194150T>C ENST00000384862.1 + 0 16 NR_030189.1 GCTGTGACCCTCCAGAGGGAA 0.418000 95 240 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1005379 1005379 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:1005379C>T ENST00000234389.3 + 3 1898 c.1879C>T c.(1879-1881)Ctc>Ttc p.L627F NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 627 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CTACGCCATCCTCTTCAGACG 0.642000 77 174 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815355 23815355 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:23815355G>A ENST00000264867.2 - 8 1870 c.1751C>T c.(1750-1752)tCc>tTc p.S584F PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 584 Arg/Ser-rich. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TCTTGACCTGGAATATGGTGA 0.438000 27 74 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 117 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54117842 54117842 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:54117842G>A ENST00000375180.2 - 11 2386 c.2330C>T c.(2329-2331)cCt>cTt p.P777L FAM120C_ENST00000328235.4_Missense_Mutation_p.P777L NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 777 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TCGGCCACCAGGCCACTGAAC 0.443000 24 22 0 0 1 0 0 PI16 221476 broad.mit.edu 37 6 36931644 36931644 + Missense_Mutation SNP C C T rs149360828 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:36931644C>T ENST00000373674.3 + 6 1644 c.1316C>T c.(1315-1317)tCg>tTg p.S439L PI16_ENST00000491324.1_3'UTR NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 439 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGGCTGAACTCGGGCCCTGGT 0.597000 15 45 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998305 27998305 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:27998305G>A ENST00000441525.1 - 1 1261 c.1147C>T c.(1147-1149)Cat>Tat p.H383Y NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 383 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 TAAACCAGATGATGAGGAGTG 0.413000 33 43 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13762882 13762882 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:13762882C>T ENST00000265104.4 - 60 10334 c.10230G>A c.(10228-10230)acG>acA p.T3410T DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3410 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCATAGCTTTCGTCCAGGAAC 0.453000 Kartagener syndrome 30 55 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104898359 104898359 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:104898359C>T ENST00000507740.1 + 2 1192 c.956C>T c.(955-957)tCg>tTg p.S319L RIMS2_ENST00000436393.2_Missense_Mutation_p.S289L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S511L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S319L NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 542 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.S289L(1)|p.S547L(1)|p.S319L(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CGCCAGATTTCGTTGAGCAGT 0.428000 HNSCC(12;0.0054) 18 100 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107866963 107866963 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:107866963C>T ENST00000370067.1 + 3 933 c.306C>T c.(304-306)ccC>ccT p.P102P NTNG1_ENST00000370066.1_Silent_p.P102P|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370068.1_Silent_p.P102P|NTNG1_ENST00000370070.2_Silent_p.P102P|NTNG1_ENST00000370071.2_Silent_p.P102P|NTNG1_ENST00000370072.3_Silent_p.P102P|NTNG1_ENST00000370073.2_Silent_p.P102P|NTNG1_ENST00000370074.4_Silent_p.P102P|NTNG1_ENST00000542803.1_Silent_p.P102P|NTNG1_ENST00000370061.3_Silent_p.P102P|NTNG1_ENST00000370065.1_Silent_p.P102P Q9Y2I2 NTNG1_HUMAN netrin G1 102 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TGGCACACCCCCCTGAGCTGA 0.488000 89 288 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118166124 118166124 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:118166124G>A ENST00000369448.3 + 2 881 c.634G>A c.(634-636)Ggg>Agg p.G212R NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 212 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CACCGTGATTGGGGAGAGCAT 0.488000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 39 114 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495366 20495366 + RNA SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:20495366G>A ENST00000555186.1 + 0 569 NR_038836.1 TCCCTCACAGGATGAAGACAT 0.418000 11 248 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584978 179584978 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179584978G>A ENST00000589042.1 - 81 23615 c.23391C>T c.(23389-23391)ttC>ttT p.F7797F TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F6553F|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F7480F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7480 Ig-like 60. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTTTTCACGAATCGTGGAG 0.438000 22 70 0 0 1 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142143766 142143766 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:142143766C>T ENST00000390373.2 - 0 229 GGGAACTTCTCCTTTGTCAGT 0.478000 109 88 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179546359 179546359 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:179546359G>A ENST00000393371.2 - 7 1190 c.894C>T c.(892-894)ctC>ctT p.L298L RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_Silent_p.L147L|RASGEF1C_ENST00000361132.4_Silent_p.L298L Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 298 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGATGGCCATGAGGGAGTTGA 0.642000 26 61 0 0 1 0 0 POGLUT1 56983 broad.mit.edu 37 3 119190249 119190249 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:119190249G>A ENST00000295588.4 + 3 354 c.270G>A c.(268-270)caG>caA p.Q90Q NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 90 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 CCCACTATCAGATCACTAAGA 0.458000 65 185 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60059730 60059730 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:60059730G>A ENST00000397786.2 - 16 3710 c.3634C>T c.(3634-3636)Cct>Tct p.P1212S NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1212 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CCACTTTTAGGAAAAGGATCT 0.383000 47 124 0 0 1 0 0 NUP210P1 255330 broad.mit.edu 37 3 126386065 126386065 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:126386065C>T ENST00000357061.3 + 0 517 NR_034158.1 CACCGATGTCCATCTATATCA 0.582000 14 40 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155170762 155170762 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:155170762C>T ENST00000368378.3 - 13 1494 c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000428962.2_Missense_Mutation_p.E342K|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.E372K|THBS3_ENST00000541990.1_Missense_Mutation_p.E21K|THBS3_ENST00000541576.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 492 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCAGCATCTTCCTGCCCAGAG 0.552000 95 343 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35944206 35944206 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:35944206C>T ENST00000297866.5 + 2 388 c.322C>T c.(322-324)Cat>Tat p.H108Y NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 108 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GGTGGAATATCATCCTGATAA 0.368000 19 18 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11593453 11593453 + Missense_Mutation SNP G G T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:11593453G>T ENST00000262442.3 + 20 4382 c.4314G>T c.(4312-4314)aaG>aaT p.K1438N DNAH9_ENST00000454412.2_Missense_Mutation_p.K1438N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1438 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAACCTTAAAGGAGCTGCAGA 0.552000 13 54 3.27435e-08 3.30788e-08 1 1 0 NPC1L1 29881 broad.mit.edu 37 7 44556925 44556925 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:44556925C>T ENST00000289547.4 - 16 3304 c.3249G>A c.(3247-3249)ctG>ctA p.L1083L NPC1L1_ENST00000546276.1_Silent_p.L1010L|NPC1L1_ENST00000381160.3_Silent_p.L1056L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1083 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding 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) GTGAGTTTTTCAGGGGCTTGT 0.557000 40 119 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594888 179594888 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179594888C>T ENST00000589042.1 - 62 18463 c.18239G>A c.(18238-18240)gGa>gAa p.G6080E TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4836E|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5763E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5763 Ig-like 42. 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) AATGTAGGTTCCAGAATCGGT 0.463000 16 35 0 0 1 0 0 TCIRG1 10312 broad.mit.edu 37 11 67815268 67815268 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:67815268G>A ENST00000265686.3 + 12 1568 c.1460G>A c.(1459-1461)tGg>tAg p.W487* TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.W271* NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 487 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 CAGTCTGGCTGGAGGTGAGGC 0.692000 55 196 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358289 124358289 + Splice_Site SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:124358289G>A ENST00000368909.3 + 26 3062 c.e26-1 DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000338354.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTCCCCTGTAGGATCTGAATC 0.527000 7 443 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44049980 44049980 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:44049980G>A ENST00000543989.1 - 6 1939 c.234C>T c.(232-234)ccC>ccT p.P78P ABCG5_ENST00000405322.1_Silent_p.P302P|ABCG5_ENST00000260645.1_Silent_p.P473P Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 473 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAACGCTGAAGGGGAGGACGT 0.592000 23 54 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21646061 21646061 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:21646061G>A ENST00000328843.6 + 19 3697 c.3666G>A c.(3664-3666)tgG>tgA p.W1222* DNAH11_ENST00000409508.3_Nonsense_Mutation_p.W1222* Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1222 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTGAAAGATGGGAAACTACCA 0.363000 Kartagener syndrome 6 38 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35928313 35928313 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:35928313G>A ENST00000374694.1 - 1 2049 c.2045C>T c.(2044-2046)tCc>tTc p.S682F NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 682 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 ATAAGACACGGAGCTCGCCGT 0.746000 3 11 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96052937 96052937 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:96052937C>T ENST00000343702.4 - 10 2260 c.1812G>A c.(1810-1812)atG>atA p.M604I NTN4_ENST00000344911.4_Missense_Mutation_p.M567I|NTN4_ENST00000538383.1_Missense_Mutation_p.M567I|NTN4_ENST00000553059.1_Missense_Mutation_p.M581I|PGAM1P5_ENST00000552554.1_RNA NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 604 NTR. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CAAAGCTTTTCATATTCACAA 0.358000 33 82 0 0 1 0 0 TTC31 64427 broad.mit.edu 37 2 74717484 74717484 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:74717484C>T ENST00000410003.1 + 4 355 c.346C>T c.(346-348)Cct>Tct p.P116S TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_5'UTR|TTC31_ENST00000233623.5_Missense_Mutation_p.P116S Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 116 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 CTTCCTGTATCCTCCCCAAGA 0.597000 17 72 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842258 123842258 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:123842258G>A ENST00000369005.1 + 4 583 c.243G>A c.(241-243)agG>agA p.R81R TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.R81R|TACC2_ENST00000515273.1_Silent_p.R81R|TACC2_ENST00000515603.1_Silent_p.R81R|TACC2_ENST00000453444.2_Silent_p.R81R NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 81 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGAGCCAAGGAAGGACCCAC 0.632000 33 59 0 0 1 0 0 SHBG 6462 broad.mit.edu 37 17 7535018 7535018 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:7535018C>T ENST00000380450.4 + 5 698 c.667C>T c.(667-669)Ccc>Tcc p.P223S SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575903.1_Missense_Mutation_p.P205S|SHBG_ENST00000441599.2_Missense_Mutation_p.P223S|SHBG_ENST00000416273.3_Missense_Mutation_p.P223S|SHBG_ENST00000340624.5_Missense_Mutation_p.P165S|SHBG_ENST00000572262.1_Missense_Mutation_p.P111S|SHBG_ENST00000574539.1_Missense_Mutation_p.P165S|SHBG_ENST00000570547.1_Missense_Mutation_p.P165S|SHBG_ENST00000575314.1_Missense_Mutation_p.P165S|SHBG_ENST00000576728.1_Missense_Mutation_p.P111S|SHBG_ENST00000576478.1_Missense_Mutation_p.P111S NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 223 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) AGAATCAAATCCCGGGATATT 0.562000 133 346 0 0 1 0 0 GTF2F1 2962 broad.mit.edu 37 19 6380619 6380619 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:6380619G>A ENST00000394456.5 - 12 1778 c.1314C>T c.(1312-1314)ccC>ccT p.P438P GTF2F1_ENST00000429701.2_Silent_p.P353P NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 438 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 ATGGTGGCTGGGGTGTCGACT 0.637000 33 89 0 0 1 0 0 PPWD1 23398 broad.mit.edu 37 5 64867904 64867904 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:64867904C>T ENST00000261308.5 + 5 832 c.760C>T c.(760-762)Cct>Tct p.P254S PPWD1_ENST00000535264.1_Missense_Mutation_p.P224S|PPWD1_ENST00000538977.1_Missense_Mutation_p.P98S NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 254 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) GACTGGGCCTCCTCATGAATA 0.398000 33 112 0 0 1 0 0 IDUA 3425 broad.mit.edu 37 4 995265 995265 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:995265G>A ENST00000453894.1 + 4 450 c.362G>A c.(361-363)gGa>gAa p.G121E IDUA_ENST00000514224.1_Missense_Mutation_p.G36E|IDUA_ENST00000247933.4_Missense_Mutation_p.G168E P35475 IDUA_HUMAN iduronidase, alpha-L- 168 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) GGTAGGTACGGACTGGCGCAT 0.582000 38 143 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13150516 13150516 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:13150516G>A ENST00000319217.7 - 25 3871 c.3624C>T c.(3622-3624)atC>atT p.I1208I MPDZ_ENST00000538841.1_Silent_p.I100I|MPDZ_ENST00000447879.1_Silent_p.I1208I|MPDZ_ENST00000546205.1_Silent_p.I1222I|MPDZ_ENST00000381015.4_Silent_p.I1208I|MPDZ_ENST00000381022.2_Silent_p.I1208I|MPDZ_ENST00000541718.1_Silent_p.I1208I|MPDZ_ENST00000536827.1_Silent_p.I1208I NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1208 PDZ 7. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GTACCTCTACGATTCTATCTC 0.338000 64 161 0 0 1 0 0 GEMIN7 79760 broad.mit.edu 37 19 45593701 45593701 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:45593701C>T ENST00000270257.4 + 3 576 c.329C>T c.(328-330)cCc>cTc p.P110L GEMIN7_ENST00000591747.1_Missense_Mutation_p.P110L|GEMIN7_ENST00000591607.1_Missense_Mutation_p.P110L|GEMIN7_ENST00000391951.2_Missense_Mutation_p.P110L NM_001007269.1|NM_001007270.1|NM_024707.2 NP_001007270.1|NP_001007271.1|NP_078983.1 Q9H840 GEMI7_HUMAN gem (nuclear organelle) associated protein 7 110 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) CTGCAGACTCCCATAGGTGTG 0.517000 45 87 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81969780 81969780 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:81969780C>T ENST00000359376.3 + 27 3063 c.2849C>T c.(2848-2850)cCt>cTt p.P950L NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 950 PI-PLC Y-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GCAGAAAATCCTGACTTCCGA 0.458000 16 46 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641750 57641750 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:57641750G>A ENST00000254181.4 + 4 2161 c.1707G>A c.(1705-1707)atG>atA p.M569I USP29_ENST00000598197.1_Missense_Mutation_p.M569I NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 569 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCAGGAGATGATTTCTGAGA 0.468000 41 122 0 0 1 0 0 TCIRG1 10312 broad.mit.edu 37 11 67815269 67815269 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:67815269G>A ENST00000265686.3 + 12 1569 c.1461G>A c.(1459-1461)tgG>tgA p.W487* TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.W271* NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 487 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 AGTCTGGCTGGAGGTGAGGCC 0.692000 55 190 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22404390 22404390 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:22404390C>T ENST00000334304.5 - 15 2534 c.2265G>A c.(2263-2265)gcG>gcA p.A755A GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 755 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GGAGGCTGGCCGCCTGGGTGT 0.428000 36 72 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110494908 110494908 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:110494908C>T ENST00000260283.4 - 5 765 c.481G>A c.(481-483)Gtg>Atg p.V161M ARHGAP20_ENST00000357139.3_Missense_Mutation_p.V135M|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.V135M|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.V138M|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.V125M|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.V125M NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 161 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) ACAAAGTTCACTGTGGGCCAG 0.388000 16 46 0 0 1 0 0 DLL4 54567 broad.mit.edu 37 15 41222069 41222069 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:41222069C>T ENST00000249749.5 + 2 367 c.91C>T c.(91-93)Cag>Tag p.Q31* NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 31 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CGGCGTCTTCCAGCTGCAGCT 0.692000 11 54 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33987146 33987146 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:33987146G>A ENST00000373381.4 - 68 10690 c.10514C>T c.(10513-10515)tCg>tTg p.S3505L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3361 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) GGACTCTGACGAGACCTGTGA 0.567000 20 52 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196352 207196352 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:207196352C>T ENST00000359470.5 - 4 1006 c.757G>A c.(757-759)Gaa>Aaa p.E253K C1orf116_ENST00000461135.2_Missense_Mutation_p.E7K NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 253 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) GAGACTGTTTCCTTGGCTTTT 0.587000 145 208 0 0 1 0 0 HOXA6 3203 broad.mit.edu 37 7 27187306 27187306 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:27187306G>A ENST00000222728.3 - 1 87 c.63C>T c.(61-63)ttC>ttT p.F21F HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000521231.1_RNA NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 21 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 GCTGGCCCAAGAAGGAGTCCT 0.607000 19 65 0 0 1 0 0 SLC1A1 6505 broad.mit.edu 37 9 4572216 4572216 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:4572216G>A ENST00000262352.3 + 7 831 c.595G>A c.(595-597)Gaa>Aaa p.E199K NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 199 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) CAAAACAAAGGAATACAAAAT 0.368000 53 185 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138568 126138568 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:126138568C>T ENST00000299308.3 + 9 2557 c.2549C>T c.(2548-2550)cCc>cTc p.P850L TMEM132B_ENST00000535886.1_Missense_Mutation_p.P362L NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 850 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCACAACCCCCCAGTCTCCC 0.517000 21 57 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91347778 91347778 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:91347778C>T ENST00000358859.2 - 1 1175 c.742G>A c.(742-744)Gaa>Aaa p.E248K CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 TACAGAGTTTCCTGCAGTCCC 0.622000 150 416 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13913897 13913897 + Silent SNP T T C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:13913897T>C ENST00000265104.4 - 11 1595 c.1491A>G c.(1489-1491)caA>caG p.Q497Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 497 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGTGGAATCTTGCAGGACTG 0.358000 Kartagener syndrome 31 70 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569999 179569999 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179569999C>T ENST00000589042.1 - 103 29730 c.29506G>A c.(29506-29508)Gaa>Aaa p.E9836K TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8592K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9519K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9519 Ig-like 79. 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) GCATATTTTTCATATTCTTTA 0.368000 23 48 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6672803 6672803 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:6672803G>A ENST00000541778.1 - 7 1141 c.653C>T c.(652-654)cCc>cTc p.P218L NOP2_ENST00000399466.2_Missense_Mutation_p.P218L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.P222L|NOP2_ENST00000545200.1_Missense_Mutation_p.P218L|NOP2_ENST00000322166.5_Missense_Mutation_p.P222L|NOP2_ENST00000382421.3_Missense_Mutation_p.P255L P46087 NOP2_HUMAN NOP2 nucleolar protein 222 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CCCAGCAGGGGGCAGCACAAA 0.557000 OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 41 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048875 9048875 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:9048875G>A ENST00000397910.4 - 5 32959 c.32756C>T c.(32755-32757)tCt>tTt p.S10919F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10921 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAATAGCAGAACTGGCTTC 0.488000 41 138 0 0 1 0 0 UBA52 7311 broad.mit.edu 37 19 18684476 18684476 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:18684476C>T ENST00000442744.2 + 3 166 c.108C>T c.(106-108)atC>atT p.I36I UBA52_ENST00000430157.2_Silent_p.I36I|UBA52_ENST00000599551.1_Silent_p.I36I|UBA52_ENST00000597451.1_Silent_p.I36I|UBA52_ENST00000596304.1_Silent_p.I36I|UBA52_ENST00000596273.1_Silent_p.I36I|UBA52_ENST00000598780.1_Silent_p.I36I|UBA52_ENST00000595683.1_Silent_p.I36I|UBA52_ENST00000595158.1_Silent_p.I36I|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599595.1_Silent_p.I36I NM_001033930.1 NP_001029102.1 P62987 RL40_HUMAN ubiquitin A-52 residue ribosomal protein fusion product 1 36 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 CCTCAGGTATCCCACCTGACC 0.572000 27 84 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848781 92848781 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:92848781G>A ENST00000341723.4 - 1 114 c.27C>T c.(25-27)ttC>ttT p.F9F HEPACAM2_ENST00000453812.2_Intron|HEPACAM2_ENST00000394468.2_Intron|HEPACAM2_ENST00000440868.1_Silent_p.F9F NM_198151.1 NP_937794.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 0 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CAAAGGAAAGGAAAGTTGTGA 0.498000 41 119 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220342127 220342127 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:220342127G>A ENST00000312358.7 + 20 4821 c.4689G>A c.(4687-4689)gcG>gcA p.A1563A SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1563 Ig-like 8. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGAACCTGGCGGGTGAGGTCT 0.597000 4 10 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57115245 57115245 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:57115245G>A ENST00000439986.4 - 7 782 c.745C>T c.(745-747)Cct>Tct p.P249S CCBE1_ENST00000398179.2_Silent_p.L24L NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 249 Collagen-like 1. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) GGCAGGCCAGGAGGTCCTGGA 0.577000 43 98 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62065171 62065171 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:62065171G>A ENST00000354587.3 - 8 1285 c.1109C>T c.(1108-1110)cCc>cTc p.P370L KCNQ2_ENST00000430658.1_Missense_Mutation_p.P370L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P370L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P370L|KCNQ2_ENST00000344425.5_Missense_Mutation_p.P370L|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000370222.3_Missense_Mutation_p.P370L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.P370L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P370L|KCNQ2_ENST00000370221.1_Missense_Mutation_p.P370L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.P370L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P370L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P370L O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 370 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCTGTACATGGGCACGGTGAC 0.517000 37 110 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241976279 241976279 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:241976279C>T ENST00000310397.8 + 5 878 c.878C>T c.(877-879)cCc>cTc p.P293L SNED1_ENST00000405547.3_Missense_Mutation_p.P293L|SNED1_ENST00000401884.1_Missense_Mutation_p.P293L|SNED1_ENST00000342631.6_Missense_Mutation_p.P293L|AC005237.4_ENST00000458377.1_RNA NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 293 EGF-like 1. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) ACGGGCAACCCCTCCTACACC 0.706000 13 36 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961290 34961290 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:34961290G>A ENST00000329357.5 + 1 378 c.342G>A c.(340-342)cgG>cgA p.R114R NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 114 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGCCAGCACGGAAGGCGTTCG 0.532000 42 47 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32487522 32487522 + Missense_Mutation SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:32487522A>G ENST00000548411.1 + 6 2354 c.2173A>G c.(2173-2175)Acg>Gcg p.T725A BICD1_ENST00000281474.5_Missense_Mutation_p.T725A NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 725 Interacts with RAB6A. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TGAAACCATGACGAAGCTTAG 0.393000 25 102 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276189 152276189 + Nonsense_Mutation SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:152276189C>A ENST00000368799.1 - 3 11208 c.11173G>T c.(11173-11175)Gga>Tga p.G3725* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3725 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGCCCGTCCATGGGCAGAC 0.607000 Ichthyosis 173 630 6.92943e-93 7.1592e-93 1 1 0 SCN4A 6329 broad.mit.edu 37 17 62041036 62041036 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:62041036C>T ENST00000578147.1 - 10 1678 c.1602G>A c.(1600-1602)atG>atA p.M534I SCN4A_ENST00000435607.1_Missense_Mutation_p.M534I P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 534 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) ACTCACCTTCCATGGCGTCGG 0.627000 5 17 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112884098 112884098 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:112884098C>T ENST00000351677.2 + 2 231 c.33C>T c.(31-33)atC>atT p.I11I PTPN11_ENST00000392597.1_Silent_p.I11I NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 11 SH2 1. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 ACCCAAATATCACTGGTGTGG 0.408000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 39 92 0 0 1 0 0 TMEM88 92162 broad.mit.edu 37 17 7758455 7758455 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:7758455C>T ENST00000301599.6 + 1 73 c.63C>T c.(61-63)ccC>ccT p.P21P TMEM88_ENST00000574668.1_Silent_p.P21P NM_203411.1 NP_981956.1 Q6PEY1 TMM88_HUMAN transmembrane protein 88 21 integral to membrane lung(1) 1 all_cancers(10;0.00528)|Prostate(122;0.202) CCCGGGACCCCCTGGACTGTT 0.672000 7 24 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146619 70146619 + Missense_Mutation SNP A A T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:70146619A>T ENST00000335568.5 + 1 403 c.401A>T c.(400-402)aAg>aTg p.K134M UGT2B28_ENST00000511240.1_Missense_Mutation_p.K134M NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 134 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GTTTCAAATAAGAAAGTTATG 0.333000 40 123 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682926 218682926 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:218682926C>T ENST00000171887.4 - 24 4269 c.3817G>A c.(3817-3819)Ggc>Agc p.G1273S TNS1_ENST00000430930.1_Missense_Mutation_p.G1252S|TNS1_ENST00000419504.1_Missense_Mutation_p.G1260S NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1273 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGTGCCGGCCCAGGCTGGGA 0.682000 16 35 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21102932 21102932 + Missense_Mutation SNP G G T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:21102932G>T ENST00000377122.4 - 23 2678 c.2282C>A c.(2281-2283)cCa>cAa p.P761Q NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 761 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AATCAGACTTGGTCTACCTTT 0.333000 16 65 2.48551e-13 2.51525e-13 1 1 0 C19orf44 84167 broad.mit.edu 37 19 16625374 16625374 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:16625374C>T ENST00000221671.3 + 7 1958 c.1802C>T c.(1801-1803)aCg>aTg p.T601M CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.T569M NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 601 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 CTGAGCCTGACGCAGCAGTTC 0.652000 10 26 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 39980082 39980082 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:39980082C>T ENST00000308666.3 - 7 1799 c.1664G>A c.(1663-1665)gGa>gAa p.G555E NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 555 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CCGAAGACTTCCAAGAGACAT 0.393000 35 65 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138413176 138413176 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:138413176G>A ENST00000409968.1 + 22 4229 c.4051G>A c.(4051-4053)Gaa>Aaa p.E1351K THSD7B_ENST00000272643.3_Missense_Mutation_p.E1354K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1323K thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ACTGTGTGGAGAAATGCCCTT 0.527000 10 21 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139884529 139884529 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:139884529C>T ENST00000297183.6 + 16 3252 c.3128C>T c.(3127-3129)cCt>cTt p.P1043L ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1043L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1043L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGTGTATCCTTCAGTTGAC 0.398000 43 120 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199453 4199453 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:4199453G>A ENST00000296358.4 - 5 1132 c.1108C>T c.(1108-1110)Cgg>Tgg p.R370W NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 370 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTGTAAATCCGGATTCCAGCC 0.582000 39 106 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42295712 42295712 + Splice_Site SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:42295712C>T ENST00000379310.3 - 25 2827 c.e25-1 VWA8_ENST00000281496.6_Splice_Site NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 AAAATATCACCTAAAGGAGAG 0.438000 11 44 0 0 1 0 0 F2RL3 9002 broad.mit.edu 37 19 17001362 17001362 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:17001362C>T ENST00000248076.3 + 2 1418 c.1088C>T c.(1087-1089)aCc>aTc p.T363I NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 363 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCGGGGGACACCGTGGCCTCC 0.637000 6 18 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121384967 121384967 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:121384967C>T ENST00000260197.7 + 8 1277 c.1148C>T c.(1147-1149)tCc>tTc p.S383F SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 383 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTGAAGTTCTCCCTGTCCTTG 0.542000 26 63 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354861 45354861 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:45354861C>T ENST00000359271.2 + 2 1436 c.1186C>T c.(1186-1188)Cct>Tct p.P396S NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 396 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CTCTGCCCTCCCTGGGCCCCC 0.637000 23 57 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52497049 52497049 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:52497049G>A ENST00000602063.1 - 6 1629 c.1280C>T c.(1279-1281)cCt>cTt p.P427L ZNF615_ENST00000391795.3_Missense_Mutation_p.P432L|ZNF615_ENST00000376716.5_Missense_Mutation_p.P427L|ZNF615_ENST00000598071.1_Missense_Mutation_p.P438L|ZNF615_ENST00000594083.1_Missense_Mutation_p.P438L Q8N8J6 ZN615_HUMAN zinc finger protein 615 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCATTTATAAGGTTTCTCTCC 0.418000 14 84 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36707395 36707395 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:36707395G>A ENST00000264659.7 - 15 3182 c.2958C>T c.(2956-2958)ggC>ggT p.G986G SRCIN1_ENST00000578925.1_Silent_p.G1020G|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 858 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 CCATACCTGAGCCCCTCCTCC 0.687000 4 18 0 0 1 0 0 C16orf45 89927 broad.mit.edu 37 16 15675129 15675129 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:15675129C>T ENST00000300006.4 + 4 719 c.360C>T c.(358-360)atC>atT p.I120I C16orf45_ENST00000452191.2_Silent_p.I103I|C16orf45_ENST00000566490.1_Silent_p.I120I|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Silent_p.I72I NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 120 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 TCCAGAAGATCCACAAACTGG 0.502000 12 42 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49355505 49355505 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:49355505G>A ENST00000263265.6 - 13 1960 c.1405C>T c.(1405-1407)Ctg>Ttg p.L469L PLEKHA4_ENST00000355496.5_Silent_p.L444L NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 469 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CCAAGGTGCAGCAGGTACTCC 0.552000 32 113 0 0 1 0 0 LAYN 143903 broad.mit.edu 37 11 111425979 111425979 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:111425979G>A ENST00000436913.2 + 4 588 c.187G>A c.(187-189)Gaa>Aaa p.E63K LAYN_ENST00000375615.3_Missense_Mutation_p.E216K|LAYN_ENST00000375614.2_Missense_Mutation_p.E208K|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000533265.1_Missense_Mutation_p.E208K|LAYN_ENST00000525126.1_Missense_Mutation_p.E216K NM_001258391.1 NP_001245320.1 Q6UX15 LAYN_HUMAN layilin 216 C-type lectin. cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) AGAAACACAGGAAGAAGATGC 0.398000 22 63 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119749443 119749443 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:119749443G>A ENST00000541757.1 + 15 1345 c.965G>A c.(964-966)gGa>gAa p.G322E MARCO_ENST00000327097.4_Missense_Mutation_p.G400E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 400 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.G400V(2) 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 GGAGACCAGGGAGTGAAAGGT 0.547000 5 14 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93567917 93567917 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:93567917G>A ENST00000394196.4 + 39 6537 c.5469G>A c.(5467-5469)tgG>tgA p.W1823* NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1823 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) ATTATAACTGGAATGTTCGGA 0.438000 25 44 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345951 92345951 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:92345951G>A ENST00000377067.3 + 3 1208 c.836G>A c.(835-837)cGa>cAa p.R279Q NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 279 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AATGTCATGCGAGGCTGCCTG 0.537000 34 111 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112622497 112622497 + Silent SNP A A C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:112622497A>C ENST00000341068.3 - 8 1489 c.717T>G c.(715-717)gtT>gtG p.V239V NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 239 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CATGATCTACAACATATTGCA 0.353000 30 98 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542702 28542702 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:28542702G>A ENST00000452236.2 - 3 2397 c.1780C>T c.(1780-1782)Cct>Tct p.P594S NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 594 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CTGCTCTCAGGAGGGCTTTTT 0.373000 14 65 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 4995314 4995314 + Nonstop_Mutation SNP A A T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:4995314A>T ENST00000380051.2 - 8 1134 c.1090T>A c.(1090-1092)Taa>Aaa p.*364K RPP40_ENST00000464646.1_Nonstop_Mutation_p.*304K|RPP40_ENST00000319533.5_Nonstop_Mutation_p.*341K NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 0 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) tttattttttatGGTGGACAG 0.348000 28 77 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12863524 12863524 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:12863524C>T ENST00000549706.1 + 2 442 c.118C>T c.(118-120)Ctt>Ttt p.L40F BEST2_ENST00000042931.1_Missense_Mutation_p.L40F|BEST2_ENST00000553030.1_Missense_Mutation_p.L40F Q8NFU1 BEST2_HUMAN bestrophin 2 40 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 GCTCTGCTTCCTTGGGTTCTA 0.572000 22 67 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196342309 196342309 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:196342309G>A ENST00000367433.5 - 14 1465 c.1364C>T c.(1363-1365)tCt>tTt p.S455F KCNT2_ENST00000294725.8_Missense_Mutation_p.S455F|KCNT2_ENST00000367431.4_Missense_Mutation_p.S455F|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.S66F Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 455 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AATAAGTGTAGATGTTGCTGG 0.294000 36 165 0 0 1 0 0 MARCKSL1 65108 broad.mit.edu 37 1 32800433 32800433 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:32800433G>A ENST00000329421.7 - 2 698 c.353C>T c.(352-354)gCc>gTc p.A118V NM_023009.6 NP_075385.1 P49006 MRP_HUMAN MARCKS-like 1 118 plasma membrane calmodulin binding breast(1)|large_intestine(3)|lung(1)|ovary(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GGGTGAGGAGGCAGAAGAATC 0.572000 30 88 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114107704 114107704 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:114107704G>A ENST00000375418.3 - 1 135 c.49C>T c.(49-51)Ctt>Ttt p.L17F NM_138430.3 NP_612439.2 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 17 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CTGTAGCCAAGAGCATCGCCG 0.587000 35 63 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25485039 25485039 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:25485039C>T ENST00000453082.2 + 0 1979 SNORD115-38_ENST00000365037.1_RNA NR_003343.1 ACTTAAAAATCATGCTCAATA 0.512000 137 419 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103307719 103307719 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:103307719C>T ENST00000520539.1 - 30 4460 c.3854G>A c.(3853-3855)aGg>aAg p.R1285K UBR5_ENST00000220959.4_Missense_Mutation_p.R1285K|UBR5_ENST00000521922.1_Missense_Mutation_p.R1279K NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1285 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CACCGTCTGCCTTGCGACTGT 0.483000 39 180 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28823722 28823722 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:28823722G>A ENST00000422425.2 + 35 2532 c.2488G>A c.(2488-2490)Gat>Aat p.D830N PLB1_ENST00000327757.5_Missense_Mutation_p.D841N NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 841 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) gatgaaagatgatcatgtgag 0.418000 12 42 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38835405 38835405 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:38835405C>T ENST00000449082.2 - 1 96 c.97G>A c.(97-99)Gga>Aga p.G33R NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 33 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) TTCTTTGTTCCCTGCTTGGCA 0.517000 79 179 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55315821 55315821 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:55315821C>T ENST00000536015.1 - 28 3774 c.3655G>A c.(3655-3657)Gac>Aac p.D1219N RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.D1219N|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1219 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GAGATGAGGTCCGCGTAGCCC 0.706000 12 53 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150400023 150400023 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:150400023G>A ENST00000295910.6 - 7 916 c.864C>T c.(862-864)tcC>tcT p.S288S FAM194A_ENST00000491361.1_Silent_p.S142S NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 288 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTGGTTCAGAGGAAACATCCA 0.378000 28 86 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 9 462 0 0 1 0 0 HESX1 8820 broad.mit.edu 37 3 57232430 57232430 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:57232430C>T ENST00000295934.3 - 3 484 c.448G>A c.(448-450)Gac>Aac p.D150N HESX1_ENST00000473921.1_Intron NM_003865.2 NP_003856.1 Q9UBX0 HESX1_HUMAN HESX homeobox 1 150 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) TGGATTCTGTCTTCCTCTAGA 0.274000 18 61 0 0 1 0 0 ENO1 2023 broad.mit.edu 37 1 8927218 8927218 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:8927218G>A ENST00000234590.4 - 6 521 c.402C>T c.(400-402)atC>atT p.I134I NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 134 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CCAAGTCAGCGATGTGGCGGT 0.567000 29 89 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74443471 74443471 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:74443471C>T ENST00000339953.5 - 12 1428 c.1307G>A c.(1306-1308)cGa>cAa p.R436Q NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 436 C-type lectin. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GTAACGGTTTCGGGTTTTGCA 0.607000 16 111 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328580 80328580 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:80328580C>T ENST00000358842.3 - 1 792 c.775G>A c.(775-777)Gac>Aac p.D259N NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 259 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GCACATTGGTCCCCCAAACAC 0.458000 44 140 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37969634 37969634 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:37969634G>A ENST00000357972.5 + 13 2041 c.1495G>A c.(1495-1497)Gat>Aat p.D499N TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.D521N|SYTL5_ENST00000297875.2_Missense_Mutation_p.D499N Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 499 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 CTGGCACTATGATCGATTTGG 0.448000 44 40 0 0 1 0 0 PABPC1L 80336 broad.mit.edu 37 20 43545480 43545480 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:43545480C>T ENST00000255136.3 + 3 553 c.471C>T c.(469-471)acC>acT p.T157T PABPC1L_ENST00000537323.1_Silent_p.T157T|PABPC1L_ENST00000217074.4_Silent_p.T157T|PABPC1L_ENST00000217073.2_Silent_p.T157T NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 157 RRM 2. nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 CCATCAACACCATGAATGGGA 0.617000 55 137 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12666526 12666526 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:12666526C>T ENST00000425538.1 + 14 2726 c.2526C>T c.(2524-2526)atC>atT p.I842I MYOCD_ENST00000343344.4_Silent_p.I794I|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 794 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCAGCCAGATCCCCTTTGATC 0.483000 41 91 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77918572 77918572 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:77918572C>T ENST00000302536.2 + 7 1103 c.950C>T c.(949-951)tCc>tTc p.S317F NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 317 oxidoreductase activity|zinc ion binding p.S317F(1) central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GCGGGGTTTTCCCTTTTAAAT 0.507000 9 32 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000568 73000568 + Missense_Mutation SNP T T A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:73000568T>A ENST00000322038.5 + 2 3655 c.3071T>A c.(3070-3072)aTc>aAc p.I1024N TSHZ1_ENST00000580243.1_Missense_Mutation_p.I1069N NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 1069 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GACCACCTGATCTATGTGACT 0.537000 33 103 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749257 22749257 + RNA SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:22749257G>A ENST00000503442.1 + 0 377 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GCACAGCTATGATTCCTTATT 0.468000 65 142 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220167039 220167039 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:220167039G>A ENST00000295718.2 - 6 1054 c.814C>T c.(814-816)Ctt>Ttt p.L272F AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.L182F|PTPRN_ENST00000409251.3_Missense_Mutation_p.L272F NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 272 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TCTTGAAAAAGCTGGGCAGGT 0.637000 11 32 0 0 1 0 0 IGKV5-2 28907 broad.mit.edu 37 2 89197106 89197106 + RNA SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:89197106G>A ENST00000390244.2 + 0 214 AGACATTGATGATGATATGAA 0.473000 46 140 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5254618 5254618 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:5254618G>A ENST00000380448.1 + 8 863 c.610G>A c.(610-612)Gat>Aat p.D204N AKR1C4_ENST00000263126.1_Missense_Mutation_p.D204N P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 204 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) CAAACTGCTGGATTTCTGCAA 0.378000 18 61 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45554928 45554928 + Missense_Mutation SNP A A C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:45554928A>C ENST00000379161.4 - 3 569 c.523T>G c.(523-525)Ttt>Gtt p.F175V NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 175 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) GTATCACAAAAAAAGTGAAAA 0.308000 19 78 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41514491 41514491 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:41514491C>T ENST00000400454.1 - 18 3877 c.3400G>A c.(3400-3402)Gac>Aac p.D1134N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1134 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTACCTCCGTCCATGAGGTTG 0.478000 30 96 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9107787 9107787 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:9107787C>T ENST00000377424.4 - 4 479 c.300G>A c.(298-300)ggG>ggA p.G100G SLC2A5_ENST00000377414.3_Silent_p.G100G|SLC2A5_ENST00000536305.1_Silent_p.G41G|SLC2A5_ENST00000535586.1_5'UTR NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 100 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) ACAGCAAGGCCCCTTTTCTGC 0.418000 32 99 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57116349 57116349 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:57116349C>T ENST00000262510.6 + 49 5735 c.5510C>T c.(5509-5511)cCc>cTc p.P1837L NLRC5_ENST00000539144.1_Missense_Mutation_p.P1808L|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.P1808L NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1837 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AACCCCATTCCCTGCGACATG 0.582000 44 130 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111624195 111624195 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:111624195G>A ENST00000527614.1 - 9 1201 c.1136C>T c.(1135-1137)cCt>cTt p.P379L PPP2R1B_ENST00000427203.2_Missense_Mutation_p.P218L|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.P315L|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.P252L|PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.P379L NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 379 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TAAGAAAAGAGGTAGAAGATG 0.353000 15 54 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208210 53208210 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:53208210G>A ENST00000543227.1 - 6 2372 c.2098C>T c.(2098-2100)Cat>Tat p.H700Y ZNF611_ENST00000453741.2_Missense_Mutation_p.H631Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.H631Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.H631Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.H700Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.H700Y NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TCTCCAGTATGAATTCTATGA 0.368000 33 129 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271018 1271018 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:1271018G>A ENST00000447027.1 + 31 12975 c.12917G>A c.(12916-12918)aGg>aAg p.R4306K MUC5B_ENST00000529681.1_Missense_Mutation_p.R4303K Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4303 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCCAGTCCAAGGACTGCAACC 0.627000 67 179 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093406 30093406 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:30093406C>T ENST00000567636.1 + 0 1781 NR_003558.1 CCCACCAGCTCCCTTGCTGAA 0.517000 51 110 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145015920 145015920 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:145015920G>A ENST00000369359.4 - 3 419 c.381C>T c.(379-381)tcC>tcT p.S127S PDE4DIP_ENST00000530740.1_Silent_p.S127S|PDE4DIP_ENST00000493130.2_Silent_p.S56S|PDE4DIP_ENST00000478649.2_Silent_p.S56S|PDE4DIP_ENST00000313382.9_Silent_p.S56S|PDE4DIP_ENST00000369348.3_Silent_p.S127S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGCTCTCAAGGAATATGTCT 0.453000 T PDGFRB MPD 67 1189 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197122600 197122600 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:197122600C>T ENST00000260983.2 - 18 3548 c.3366G>A c.(3364-3366)ggG>ggA p.G1122G HECW2_ENST00000409111.1_Silent_p.G766G NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1122 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 ATCCTGGAGTCCCTTCAGTTC 0.423000 19 72 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35684615 35684615 + Missense_Mutation SNP C C G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:35684615C>G ENST00000373664.3 - 10 1363 c.1297G>C c.(1297-1299)Gga>Cga p.G433R RBL1_ENST00000344359.3_Missense_Mutation_p.G433R NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 433 Domain A.|Pocket; binds T and E1A. 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) TCTCCTATTCCTTTTAGTATT 0.348000 11 31 0 0 1 0 0 SNAPC4 6621 broad.mit.edu 37 9 139277831 139277831 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:139277831G>A ENST00000298532.2 - 15 2158 c.1790C>T c.(1789-1791)tCc>tTc p.S597F NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 597 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AGGGCTGAGGGAGGCAGCGGG 0.692000 7 19 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087052 92087052 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:92087052C>T ENST00000298047.6 + 1 1791 c.1774C>T c.(1774-1776)Cca>Tca p.P592S FAT3_ENST00000525166.1_Missense_Mutation_p.P442S|FAT3_ENST00000409404.2_Missense_Mutation_p.P592S|FAT3_ENST00000541502.1_Missense_Mutation_p.P592S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 592 Cadherin 6. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATATGACTTTCCAGTTGGTGG 0.398000 TCGA Ovarian(4;0.039) 12 36 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82644304 82644304 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:82644304C>T ENST00000533655.1 + 6 2136 c.1924C>T c.(1924-1926)Cca>Tca p.P642S C11orf82_ENST00000430323.2_Missense_Mutation_p.P642S|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000329143.3_Missense_Mutation_p.P341S|C11orf82_ENST00000525361.1_Intron NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 642 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TTGCAATAGTCCAAATAGAAG 0.333000 36 114 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060671 16060671 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:16060671C>T ENST00000322107.1 + 1 854 c.854C>T c.(853-855)cCc>cTc p.P285L NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 GTCTTCACCCCCTTCCTTAGC 0.453000 52 169 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241991497 241991497 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:241991497G>A ENST00000310397.8 + 14 1892 c.1892G>A c.(1891-1893)gGc>gAc p.G631D SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Missense_Mutation_p.G631D|SNED1_ENST00000401884.1_Missense_Mutation_p.G631D|SNED1_ENST00000342631.6_Missense_Mutation_p.G631D|AC005237.4_ENST00000458377.1_RNA NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 631 EGF-like 9. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) TGTCACAACGGCGGCACCTGC 0.622000 26 49 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3151552 3151552 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:3151552C>T ENST00000381075.2 + 12 1169 c.945C>T c.(943-945)agC>agT p.S315S PFKP_ENST00000381125.4_Silent_p.S323S NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 323 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) TCCAGGCCAGCCGCATGGGAG 0.642000 29 50 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96131409 96131409 + RNA SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:96131409G>A ENST00000467865.1 + 0 1817 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) GGATGCATGGGGAAGGTGAGG 0.562000 T TRA@ T-ALL 6 22 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120876451 120876451 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:120876451C>T ENST00000273666.6 + 9 1125 c.854C>T c.(853-855)cCt>cTt p.P285L STXBP5L_ENST00000492541.1_Missense_Mutation_p.P285L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P285L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P285L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P285L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 285 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CCAAGTCGCCCTTTCCAGACC 0.408000 30 91 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49668497 49668497 + Splice_Site SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:49668497C>T ENST00000339139.4 - 5 303 c.66_splice c.e5-1 p.D23_splice NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 23 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AAAGCGGGATCCTAAAAGAAA 0.318000 35 112 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159277710 159277710 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:159277710C>T ENST00000368115.1 + 6 861 c.762C>T c.(760-762)ccC>ccT p.P254P FCER1A_ENST00000368114.1_Silent_p.P221P NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 254 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) AGCCAAACCCCAAAAACAACT 0.368000 17 70 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6672804 6672804 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:6672804G>A ENST00000541778.1 - 7 1140 c.652C>T c.(652-654)Ccc>Tcc p.P218S NOP2_ENST00000399466.2_Missense_Mutation_p.P218S|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.P222S|NOP2_ENST00000545200.1_Missense_Mutation_p.P218S|NOP2_ENST00000322166.5_Missense_Mutation_p.P222S|NOP2_ENST00000382421.3_Missense_Mutation_p.P255S P46087 NOP2_HUMAN NOP2 nucleolar protein 222 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CCAGCAGGGGGCAGCACAAAT 0.562000 OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 41 0 0 1 0 0 MOG 4340 broad.mit.edu 37 6 29627133 29627133 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:29627133G>A ENST00000376894.4 + 2 244 c.126G>A c.(124-126)cgG>cgA p.R42R MOG_ENST00000376917.3_Silent_p.R42R|MOG_ENST00000533330.2_Silent_p.R42R|MOG_ENST00000494692.1_Silent_p.R42R|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Silent_p.R42R|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Silent_p.R42R|MOG_ENST00000376888.2_Intron|MOG_ENST00000376902.3_Silent_p.R42R|MOG_ENST00000416766.2_Silent_p.R42R|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Silent_p.R42R|MOG_ENST00000396704.3_Silent_p.R42R|MOG_ENST00000376898.3_Silent_p.R42R Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 42 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 ACCCTATCCGGGCTCTGGTCG 0.557000 73 261 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 4 31 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35684614 35684614 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:35684614C>T ENST00000373664.3 - 10 1364 c.1298G>A c.(1297-1299)gGa>gAa p.G433E RBL1_ENST00000344359.3_Missense_Mutation_p.G433E NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 433 Domain A.|Pocket; binds T and E1A. 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) CTCTCCTATTCCTTTTAGTAT 0.348000 11 30 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41806783 41806783 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:41806783G>A ENST00000396930.3 - 11 2240 c.1697C>T c.(1696-1698)cCt>cTt p.P566L KAT6A_ENST00000265713.2_Missense_Mutation_p.P566L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P566L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P566L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 566 Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CTCATTGGCAGGAGGATGGAA 0.363000 11 19 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21897442 21897442 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:21897442G>A ENST00000399982.2 - 2 960 c.896C>T c.(895-897)cCc>cTc p.P299L CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.P20L|CHD8_ENST00000557364.1_Missense_Mutation_p.P299L NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 299 Gln-rich. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ATGTCCTTGGGGACCTCCAGA 0.512000 20 39 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737499 13737499 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:13737499C>T ENST00000265104.4 - 66 11421 c.11317G>A c.(11317-11319)Ggg>Agg p.G3773R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3773 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCAGGGACCCCTGGGTACTT 0.443000 Kartagener syndrome 48 141 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141034147 141034147 + Nonsense_Mutation SNP G G C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:141034147G>C ENST00000389328.4 - 18 2894 c.2880C>G c.(2878-2880)taC>taG p.Y960* TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.Y853*|TRAPPC9_ENST00000438773.2_Nonsense_Mutation_p.Y862* NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 862 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GGCCTCCAGAGTATTTGAAAT 0.458000 29 152 0 0 1 0 0 RPP14 11102 broad.mit.edu 37 3 58303203 58303203 + Missense_Mutation SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:58303203A>G ENST00000445193.2 + 6 766 c.355A>G c.(355-357)Agg>Ggg p.R119G RPP14_ENST00000295959.5_Missense_Mutation_p.R119G|RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000466547.1_Missense_Mutation_p.R119G|RPP14_ENST00000544156.1_5'UTR NM_001098783.2 NP_001092253.1 O95059 RPP14_HUMAN ribonuclease P/MRP 14kDa subunit 119 tRNA processing nucleus identical protein binding|ribonuclease P activity|RNA binding large_intestine(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191) TGGTAATAGTAGGGAACTAGT 0.393000 21 55 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922887 24922887 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:24922887C>T ENST00000329468.2 + 1 2347 c.1873C>T c.(1873-1875)Cca>Tca p.P625S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ATCCCCACTTCCATTTATATT 0.493000 54 139 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156760448 156760448 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:156760448C>T ENST00000347377.6 + 21 2810 c.2379C>T c.(2377-2379)tcC>tcT p.S793S CYFIP2_ENST00000435847.2_Silent_p.S492S|CYFIP2_ENST00000377576.3_Silent_p.S793S|CYFIP2_ENST00000318218.6_Silent_p.S818S|CYFIP2_ENST00000442283.2_Silent_p.S78S|CYFIP2_ENST00000541131.1_Silent_p.S718S|CYFIP2_ENST00000522463.1_Silent_p.S597S|CYFIP2_ENST00000521420.1_Silent_p.S767S NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 818 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCTGACCTCCATTGTGGTAA 0.498000 72 194 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600878 41600878 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:41600878C>T ENST00000330436.3 + 8 1176 c.1176C>T c.(1174-1176)ttC>ttT p.F392F NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 392 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CTGAAGTGTTCCCTATGCTGG 0.572000 49 148 0 0 1 0 0 IL18 3606 broad.mit.edu 37 11 112020877 112020877 + Silent SNP T T A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:112020877T>A ENST00000280357.7 - 4 363 c.144A>T c.(142-144)atA>atT p.I48I IL18_ENST00000533858.1_5'UTR|IL18_ENST00000524595.1_Silent_p.I44I|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Silent_p.I48I NM_001562.3 NP_001553.1 Q14116 IL18_HUMAN interleukin 18 (interferon-gamma-inducing factor) 48 angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response cytosol|extracellular space cytokine activity|signal transducer activity all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055) TCAAATTTCTTATGACTGATA 0.303000 19 74 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27861295 27861295 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:27861295C>T ENST00000261716.3 + 19 3040 c.2521C>T c.(2521-2523)Cgg>Tgg p.R841W TAOK1_ENST00000536202.1_Missense_Mutation_p.R693W NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 841 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GGTCTCCCTCCGGAGGGCACT 0.408000 20 41 0 0 1 0 0 CXADR 1525 broad.mit.edu 37 21 18937831 18937831 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:18937831C>T ENST00000284878.7 + 7 1667 c.919C>T c.(919-921)Cct>Tct p.P307S CXADR_ENST00000306618.10_Missense_Mutation_p.P266S|CXADR_ENST00000400166.1_Silent_p.L219L|CXADR_ENST00000400165.1_Silent_p.L167L|CXADR_ENST00000400169.1_Missense_Mutation_p.P307S NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 307 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) GTCCATGTCTCCTTCCAACAT 0.498000 16 67 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57170030 57170030 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:57170030C>T ENST00000371244.4 + 7 1241 c.1175C>T c.(1174-1176)cCc>cTc p.P392L NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 392 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ACGACTAAGCCCAAATCTTTA 0.468000 30 92 0 0 1 0 0 HTRA4 203100 broad.mit.edu 37 8 38845590 38845590 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:38845590G>A ENST00000302495.4 + 9 1504 c.1404G>A c.(1402-1404)ctG>ctA p.L468L NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 468 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) ATTTGCTCCTGACAGTCATAC 0.338000 12 30 0 0 1 0 0 TUBB3 10381 broad.mit.edu 37 16 89999894 89999894 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:89999894G>A ENST00000556922.1 + 4 1320 c.1226G>A c.(1225-1227)cGa>cAa p.R409Q TUBB3_ENST00000304984.5_5'UTR|TUBB3_ENST00000555576.1_Missense_Mutation_p.R62Q|TUBB3_ENST00000554444.1_5'UTR|TUBB3_ENST00000315491.7_Missense_Mutation_p.R62Q|TUBB3_ENST00000553967.1_Missense_Mutation_p.R62Q|TUBB3_ENST00000554336.1_Missense_Mutation_p.R62Q Q13509 TBB3_HUMAN tubulin, beta 3 class III 62 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) TACGTGCCTCGAGCCATTCTG 0.567000 146 325 0 0 1 0 0 LINGO4 339398 broad.mit.edu 37 1 151774899 151774899 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:151774899G>A ENST00000368820.3 - 2 1219 c.282C>T c.(280-282)aaC>aaT p.N94N NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 94 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTGAGAGCTGGTTGTAGCTGA 0.617000 42 63 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11594518 11594518 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:11594518G>A ENST00000293771.5 - 9 1963 c.1827C>T c.(1825-1827)caC>caT p.H609H CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 TGTGATCCGGGTGGCTTTTGA 0.622000 15 57 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92826893 92826893 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:92826893G>A ENST00000394468.2 - 5 1120 c.1043C>T c.(1042-1044)tCa>tTa p.S348L HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S371L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S336L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S336L NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 348 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 AGGTGACAATGATTTTCCTTT 0.313000 16 63 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123258026 123258026 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:123258026C>T ENST00000358487.5 - 12 1927 c.1655G>A c.(1654-1656)gGa>gAa p.G552E FGFR2_ENST00000369059.1_Missense_Mutation_p.G438E|FGFR2_ENST00000369061.4_Missense_Mutation_p.G440E|FGFR2_ENST00000351936.6_Missense_Mutation_p.G550E|FGFR2_ENST00000346997.2_Missense_Mutation_p.G550E|FGFR2_ENST00000369060.4_Missense_Mutation_p.G436E|FGFR2_ENST00000357555.5_Missense_Mutation_p.G463E|FGFR2_ENST00000356226.4_Missense_Mutation_p.G435E|FGFR2_ENST00000369056.1_Missense_Mutation_p.G553E|FGFR2_ENST00000457416.2_Missense_Mutation_p.G553E|FGFR2_ENST00000360144.3_Missense_Mutation_p.G464E|FGFR2_ENST00000478859.1_Missense_Mutation_p.G324E NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 552 Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TGTGCAGGCTCCAAGAAGATT 0.423000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 25 39 0 0 1 0 0 ALDH3B1 221 broad.mit.edu 37 11 67786692 67786692 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:67786692C>T ENST00000539229.1 + 6 561 c.445C>T c.(445-447)Ctg>Ttg p.L149L ALDH3B1_ENST00000316367.6_Silent_p.L149L|ALDH3B1_ENST00000007633.8_Silent_p.L149L|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Silent_p.L113L NM_001161473.1 NP_001154945.1 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 150 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) CGAGAAGATCCTGGCCGAGGT 0.637000 3 32 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6620311 6620311 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:6620311C>T ENST00000321612.6 - 3 493 c.343G>A c.(343-345)Gaa>Aaa p.E115K NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 115 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GCAAGGATTTCATTTTCACCT 0.368000 28 89 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69536220 69536220 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:69536220C>T ENST00000338206.5 - 1 126 c.117G>A c.(115-117)atG>atA p.M39I NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 39 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.M39I(1) GGATTGTCTTCATATTTATCC 0.448000 158 433 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28575527 28575527 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:28575527C>T ENST00000220562.4 + 3 2853 c.1951C>T c.(1951-1953)Cag>Tag p.Q651* EXTL3_ENST00000523149.1_Nonsense_Mutation_p.Q267*|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 651 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CAAGGAATTTCAGGCAGCGCT 0.542000 31 93 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183675624 183675624 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:183675624C>T ENST00000511685.1 + 22 4227 c.4104C>T c.(4102-4104)atC>atT p.I1368I TENM3_ENST00000406950.2_Silent_p.I1368I|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 TTTTACAGATCACTGAAAATC 0.468000 10 25 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35473545 35473545 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:35473545C>T ENST00000229771.6 - 11 1164 c.1085G>A c.(1084-1086)gGa>gAa p.G362E TULP1_ENST00000322263.4_Missense_Mutation_p.G309E NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 362 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 ATTCTCCCCTCCTCGGGACAG 0.577000 13 55 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69095143 69095143 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:69095143C>T ENST00000332644.5 - 8 939 c.778G>A c.(778-780)Gaa>Aaa p.E260K NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 260 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CTATAATTTTCATGAAAAATA 0.348000 17 77 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114079378 114079378 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:114079378C>T ENST00000356501.4 - 5 692 c.517G>A c.(517-519)Gag>Aag p.E173K ADPRHL1_ENST00000375418.3_Missense_Mutation_p.E255K NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 255 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) TTTTCCCTCTCTTCTGCATCA 0.448000 38 140 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615714 179615714 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179615714C>T ENST00000360870.5 - 46 11635 c.11413G>A c.(11413-11415)Gaa>Aaa p.E3805K TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9642 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) ATTCTTATTTCAGTCTGGAAA 0.348000 55 177 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369190 158369190 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:158369190C>T ENST00000334438.1 - 1 66 c.67G>A c.(67-69)Gag>Aag p.E23K NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AGCTGGAGCTCCCCCAGGCTG 0.473000 12 89 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207583000 207583000 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:207583000C>T ENST00000452335.2 - 1 120 c.4G>A c.(4-6)Gat>Aat p.D2N NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 2 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTATCTGGATCCATTTCACAA 0.373000 7 28 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884359 23884359 + Missense_Mutation SNP G G T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:23884359G>T ENST00000355349.3 - 37 5566 c.5404C>A c.(5404-5406)Cag>Aag p.Q1802K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1802 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGGGCGATCTGCTCGGCTTCG 0.617000 56 144 1.48341e-19 1.51672e-19 1 1 0 ZNF142 7701 broad.mit.edu 37 2 219508510 219508510 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:219508510G>A ENST00000411696.2 - 7 3508 c.2729C>T c.(2728-2730)cCt>cTt p.P910L ZNF142_ENST00000449707.1_Missense_Mutation_p.P910L P52746 ZN142_HUMAN zinc finger protein 142 910 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGGGAGCACAGGTTGCAGAGG 0.557000 78 230 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6302764 6302764 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:6302764C>T ENST00000226760.1 + 8 1412 c.1242C>T c.(1240-1242)ttC>ttT p.F414F WFS1_ENST00000503569.1_Silent_p.F414F NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 414 Missing (in WFS). endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) CTGTCTTCTTCGTCATCTTCT 0.592000 77 215 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 55999780 55999780 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:55999780G>A ENST00000313264.4 - 1 957 c.882C>T c.(880-882)atC>atT p.I294I NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ACATGAAGAGGATTGTCCCAT 0.433000 62 158 0 0 1 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984123 41984123 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:41984123G>A ENST00000333141.5 + 1 411 c.314G>A c.(313-315)cGa>cAa p.R105Q NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 105 p.R105Q(1) breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 ATCAGCCTGCGAACTCTGAAG 0.547000 26 83 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42266514 42266514 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:42266514C>T ENST00000319511.6 + 2 750 c.100C>T c.(100-102)Ctc>Ttc p.L34F TMUB2_ENST00000590235.1_Missense_Mutation_p.L34F|TMUB2_ENST00000592825.1_Missense_Mutation_p.L34F|TMUB2_ENST00000587172.1_Missense_Mutation_p.L34F|TMUB2_ENST00000587989.1_Missense_Mutation_p.L54F|TMUB2_ENST00000357984.3_Missense_Mutation_p.L34F|TMUB2_ENST00000538716.2_Missense_Mutation_p.L54F|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.L34F|TMUB2_ENST00000446571.3_Missense_Mutation_p.L34F|TMUB2_ENST00000589856.1_Missense_Mutation_p.L34F NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 54 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) CCTAGCTTGGCTCTCTACCTA 0.577000 40 126 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 3 28 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558982 140558982 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:140558982C>T ENST00000239444.2 + 1 1612 c.1367C>T c.(1366-1368)tCc>tTc p.S456F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 456 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S456F(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAAACCTCCTACACCCTG 0.607000 68 410 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132999853 132999853 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:132999853G>A ENST00000254624.5 + 18 2194 c.1969G>A c.(1969-1971)Gat>Aat p.D657N EFR3A_ENST00000519656.1_Missense_Mutation_p.D621N|EFR3A_ENST00000334503.4_Missense_Mutation_p.D657N NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 657 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GCATGAAAAAGATTTGTACTT 0.358000 15 17 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344960 53344960 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:53344960G>A ENST00000595646.1 - 4 707 c.587C>T c.(586-588)tCc>tTc p.S196F ZNF468_ENST00000396409.4_Missense_Mutation_p.S143F|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.S143F|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) AGAATGGAGGGAATTATTTCC 0.353000 47 165 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000566 73000566 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:73000566G>A ENST00000322038.5 + 2 3653 c.3069G>A c.(3067-3069)ctG>ctA p.L1023L TSHZ1_ENST00000580243.1_Silent_p.L1068L NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 1068 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGGACCACCTGATCTATGTGA 0.537000 33 101 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55139376 55139376 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:55139376C>T ENST00000414150.2 + 9 1976 c.1698C>T c.(1696-1698)gcC>gcT p.A566A MROH7_ENST00000421030.2_Silent_p.A566A|MROH7_ENST00000454855.2_Silent_p.A84A|MROH7_ENST00000395690.2_Silent_p.A566A|MROH7_ENST00000409996.1_Silent_p.A134A|MROH7_ENST00000339553.5_Silent_p.A566A|MROH7_ENST00000545244.1_Silent_p.A134A maestro heat-like repeat family member 7 TCCCACAGGCCCTGGGGCCTT 0.552000 37 143 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433302 104433302 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:104433302G>A ENST00000361820.3 - 3 1992 c.1392C>T c.(1390-1392)ttC>ttT p.F464F NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 464 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GATTCCAGATGAAAAAGTTGT 0.493000 75 230 0 0 1 0 0 SRSF7 6432 broad.mit.edu 37 2 38975790 38975790 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:38975790C>T ENST00000313117.6 - 4 629 c.392G>A c.(391-393)cGg>cAg p.R131Q SRSF7_ENST00000446327.2_Missense_Mutation_p.R131Q|SRSF7_ENST00000409276.1_Missense_Mutation_p.R131Q NM_001031684.2|NM_001195446.1 NP_001026854.1|NP_001182375.1 Q16629 SRSF7_HUMAN serine/arginine-rich splicing factor 7 131 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TGATCTAGACCGTGACCTATT 0.408000 29 91 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95226815 95226815 + Nonsense_Mutation SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:95226815C>A ENST00000237853.4 - 10 2102 c.1753G>T c.(1753-1755)Gag>Tag p.E585* ELL2_ENST00000431061.2_Nonsense_Mutation_p.E335* NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 585 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) ACCTGATACTCTTTTGAGCCT 0.433000 69 210 2.18329e-32 2.25175e-32 1 1 0 CHAF1B 8208 broad.mit.edu 37 21 37766889 37766889 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:37766889G>A ENST00000314103.4 + 5 573 c.422G>A c.(421-423)gGg>gAg p.G141E CHAF1B_ENST00000480486.1_3'UTR NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 141 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GCAACTGATGGGAATTTAATG 0.383000 56 168 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60937500 60937500 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:60937500C>T ENST00000252999.3 - 2 472 c.406G>A c.(406-408)Ggc>Agc p.G136S LAMA5_ENST00000370677.3_Missense_Mutation_p.G136S|LAMA5_ENST00000370692.3_Missense_Mutation_p.G136S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 136 Laminin N-terminal. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACTCCAGGCCGCGGGACAGC 0.647000 12 31 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22790850 22790850 + Missense_Mutation SNP A A T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:22790850A>T ENST00000400546.1 + 11 1690 c.1441A>T c.(1441-1443)Ata>Tta p.I481L NCAM2_ENST00000284894.7_Missense_Mutation_p.I339L NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 481 Ig-like C2-type 5. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CACTAATCATATAGGAACAAG 0.308000 54 153 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87780588 87780588 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:87780588G>A ENST00000398204.4 + 20 1957 c.1634G>A c.(1633-1635)gGa>gAa p.G545E ADAM22_ENST00000315984.7_Missense_Mutation_p.G545E|ADAM22_ENST00000398201.4_Missense_Mutation_p.G545E|ADAM22_ENST00000265727.7_Missense_Mutation_p.G545E|ADAM22_ENST00000398209.3_Missense_Mutation_p.G545E NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 545 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TGCTTTGGAGGAAGATGCAAA 0.373000 20 79 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508455 71508455 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:71508455G>A ENST00000396073.3 + 9 1593 c.1312G>A c.(1312-1314)Gag>Aag p.E438K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 438 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAATCCAAAGGAGAAGCCCCT 0.443000 18 109 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131404763 131404763 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:131404763G>A ENST00000512055.1 - 10 2673 c.547C>T c.(547-549)Cgt>Tgt p.R183C CPNE4_ENST00000512332.1_Missense_Mutation_p.R201C|CPNE4_ENST00000502818.1_Missense_Mutation_p.R201C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R183C|CPNE4_ENST00000511604.1_Missense_Mutation_p.R183C Q96A23 CPNE4_HUMAN copine IV 183 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TCATTCATACGAAAAATTTCC 0.383000 13 36 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172419 47172419 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:47172419C>T ENST00000447411.1 - 10 1064 c.858G>A c.(856-858)atG>atA p.M286I SLC38A4_ENST00000266579.4_Missense_Mutation_p.M286I NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 286 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TGTAATCCATCATGAAGTTCA 0.453000 33 93 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459884 66459884 + RNA SNP T T G rs139166660 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:66459884T>G ENST00000424345.1 + 0 144 tagtagatgttcttcagtgtc 0.368000 6 17 0 0 1 0 0 TEX33 339669 broad.mit.edu 37 22 37398014 37398014 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr22:37398014C>T ENST00000405091.2 - 4 604 c.353G>A c.(352-354)gGg>gAg p.G118E TEX33_ENST00000381821.1_Missense_Mutation_p.G118E|TEX33_ENST00000402860.3_Missense_Mutation_p.G33E O43247 EAN57_HUMAN testis expressed 33 118 GTCATCCGTCCCCTGGCATGG 0.622000 14 38 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754846 94754846 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:94754846G>A ENST00000554723.1 - 3 1307 c.889C>T c.(889-891)Cac>Tac p.H297Y SERPINA10_ENST00000261994.4_Missense_Mutation_p.H257Y|SERPINA10_ENST00000393096.1_Missense_Mutation_p.H257Y|SERPINA10_ENST00000554173.1_Missense_Mutation_p.H257Y Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 257 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TTGTCCAGGTGGAAAGTGTCG 0.453000 44 116 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32476324 32476324 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:32476324G>A ENST00000404025.2 - 5 1097 c.609C>T c.(607-609)ctC>ctT p.L203L NLRC4_ENST00000360906.5_Silent_p.L203L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L203L Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 203 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGCTGAGACGGAGGAAGAAGA 0.527000 28 66 0 0 1 0 0 SLC17A5 26503 broad.mit.edu 37 6 74351534 74351534 + Silent SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:74351534C>A ENST00000355773.5 - 3 673 c.405G>T c.(403-405)ggG>ggT p.G135G SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Silent_p.G135G NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 135 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCAGCATTTTCCCCCCTATTT 0.468000 70 104 4.98926e-31 5.12785e-31 1 1 0 FSHR 2492 broad.mit.edu 37 2 49381507 49381507 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:49381507C>T ENST00000406846.2 - 1 169 c.50G>A c.(49-51)gGa>gAa p.G17E FSHR_ENST00000304421.4_Missense_Mutation_p.G17E|FSHR_ENST00000346173.3_Missense_Mutation_p.G17E NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 17 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ATGATGACATCCTGAGCCCAA 0.488000 Gonadal Dysgenesis, 46 XX 23 62 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169526008 169526008 + Silent SNP C C G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:169526008C>G ENST00000367796.3 - 6 1029 c.828G>C c.(826-828)ctG>ctC p.L276L F5_ENST00000367797.3_Silent_p.L276L|F5_ENST00000546081.1_Silent_p.L139L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 276 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGTTCTGCTCCAGGACCTGGC 0.498000 22 76 0 0 1 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091671 11091671 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:11091671G>A ENST00000537503.1 - 1 191 c.136C>T c.(136-138)Cgg>Tgg p.R46W TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 46 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 GTGAGGATCCGATCAACCGAA 0.398000 9 56 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 5 283 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31605981 31605981 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:31605981C>T ENST00000379416.3 - 11 972 c.924G>A c.(922-924)gtG>gtA p.V308V XDH_ENST00000491727.1_5'UTR NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 308 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGGTTTTTTCCACAATGCTCA 0.537000 34 47 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195492161 195492161 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:195492161C>T ENST00000463781.3 - 9 14237 c.13778G>A c.(13777-13779)cGa>cAa p.R4593Q MUC4_ENST00000346145.4_Missense_Mutation_p.R357Q|MUC4_ENST00000475231.1_Missense_Mutation_p.R4541Q|MUC4_ENST00000349607.4_Missense_Mutation_p.R306Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1350 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGTTGGAATCGTAAGTCCCG 0.652000 15 43 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114842369 114842369 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:114842369C>T ENST00000374270.3 - 11 1723 c.1551G>A c.(1549-1551)atG>atA p.M517I SUSD1_ENST00000374264.2_Missense_Mutation_p.M517I|SUSD1_ENST00000374263.3_Missense_Mutation_p.M517I NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 517 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 ACATCTCCTCCATATCAGCTG 0.353000 21 72 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53907738 53907738 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:53907738C>T ENST00000396328.1 - 15 2904 c.2665G>A c.(2665-2667)Gaa>Aaa p.E889K WDR72_ENST00000557913.1_Missense_Mutation_p.E886K|WDR72_ENST00000360509.5_Missense_Mutation_p.E889K|WDR72_ENST00000559418.1_Missense_Mutation_p.E899K NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 889 p.E889*(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CAATTATTTTCCAATCCTCTT 0.328000 25 65 0 0 1 0 0 FLCN 201163 broad.mit.edu 37 17 17131316 17131316 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:17131316C>T ENST00000285071.4 - 4 590 c.136G>A c.(136-138)Gaa>Aaa p.E46K RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.E46K|FLCN_ENST00000389169.5_Missense_Mutation_p.E46K NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin 46 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TCCTCTTCTTCCGCCTGCTCA 0.652000 Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome 26 65 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7727273 7727273 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:7727273C>T ENST00000572933.1 + 75 12911 c.11451C>T c.(11449-11451)atC>atT p.I3817I DNAH2_ENST00000389173.2_Silent_p.I3817I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3817 AAA 6 (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) CCCGCTTCATCGAGCCGCCTG 0.597000 31 77 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52951089 52951089 + Missense_Mutation SNP C C T rs145325813 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:52951089C>T ENST00000295213.4 + 11 1861 c.1487C>T c.(1486-1488)tCg>tTg p.S496L SPATA18_ENST00000419395.2_Missense_Mutation_p.S464L NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 496 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AAGTGGAATTCGGTGCGATCT 0.398000 30 65 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31066239 31066239 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:31066239C>T ENST00000399914.1 - 2 783 c.262G>A c.(262-264)Gat>Aat p.D88N GRIK1_ENST00000399907.1_Missense_Mutation_p.D88N|GRIK1_ENST00000327783.4_Missense_Mutation_p.D88N|GRIK1_ENST00000389124.2_Missense_Mutation_p.D88N|GRIK1_ENST00000535441.1_Missense_Mutation_p.D88N|GRIK1_ENST00000389125.3_Missense_Mutation_p.D88N|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Missense_Mutation_p.D88N|GRIK1_ENST00000399913.1_Missense_Mutation_p.D88N|GRIK1_ENST00000399909.1_Missense_Mutation_p.D88N P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 88 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCAAAACTATCAAAAAGGTTA 0.408000 43 104 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21124456 21124456 + Nonsense_Mutation SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:21124456C>A ENST00000377122.4 - 14 1831 c.1435G>T c.(1435-1437)Gag>Tag p.E479* NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 479 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTCGCTATCTCTGCAGCCTTC 0.423000 76 206 1.21826e-31 1.25428e-31 1 1 0 TTN 7273 broad.mit.edu 37 2 179611964 179611964 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179611964G>A ENST00000360870.5 - 46 15385 c.15163C>T c.(15163-15165)Cca>Tca p.P5055S TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1162 Ig-like 31. 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) GTCTCCCCTGGGGGTGTGGAG 0.498000 32 91 0 0 1 0 0 TMEM88 92162 broad.mit.edu 37 17 7758454 7758454 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:7758454C>T ENST00000301599.6 + 1 72 c.62C>T c.(61-63)cCc>cTc p.P21L TMEM88_ENST00000574668.1_Missense_Mutation_p.P21L NM_203411.1 NP_981956.1 Q6PEY1 TMM88_HUMAN transmembrane protein 88 21 integral to membrane lung(1) 1 all_cancers(10;0.00528)|Prostate(122;0.202) CCCCGGGACCCCCTGGACTGT 0.667000 7 24 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954695 30954695 + Missense_Mutation SNP C C T rs41288651 byFrequency TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:30954695C>T ENST00000376296.3 + 2 984 c.743C>T c.(742-744)cCc>cTc p.P248L MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 248 28 X 15 AA approximate tandem repeats.|Ser-rich. P -> V (in Ref. 3; AAQ88781 and 4; CAQ08321). integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TCCAGCACACCCTCCAGTGGG 0.642000 140 414 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36279258 36279258 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:36279258C>T ENST00000007510.4 + 21 3935 c.3791C>T c.(3790-3792)gCt>gTt p.A1264V ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A1100V|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A1103V O14559 RHG33_HUMAN Rho GTPase activating protein 33 1264 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GGGGAGGGGGCTGGTCCCCCA 0.677000 6 21 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 50971419 50971419 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:50971419G>A ENST00000266037.9 + 5 249 c.226G>A c.(226-228)Gaa>Aaa p.E76K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 76 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TAGGCAGTATGAAACTGTGGT 0.393000 7 20 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181693 57181693 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:57181693C>T ENST00000504228.1 + 6 2130 c.2025C>T c.(2023-2025)atC>atT p.I675I KIAA1211_ENST00000264229.6_Silent_p.I675I|KIAA1211_ENST00000541073.1_Silent_p.I668I Q6ZU35 K1211_HUMAN KIAA1211 675 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GGTCCAGAATCCTGAAGAACG 0.677000 38 117 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56487600 56487600 + Missense_Mutation SNP T T G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:56487600T>G ENST00000291971.3 + 8 2878 c.2807T>G c.(2806-2808)cTg>cGg p.L936R NLRP8_ENST00000590542.1_Missense_Mutation_p.L917R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 936 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTTAATAGCCTGAAGGATGAT 0.463000 26 93 0 0 1 0 0 SPATA17 128153 broad.mit.edu 37 1 217947744 217947744 + Silent SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:217947744A>G ENST00000366933.4 + 7 643 c.588A>G c.(586-588)gcA>gcG p.A196A NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 196 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TACAGAAGGCAAAGCCTTTAA 0.433000 34 141 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773097 140773097 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:140773097C>T ENST00000398604.2 + 1 717 c.717C>T c.(715-717)gcC>gcT p.A239A PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACAATGCCCCGGTTTTTC 0.587000 34 136 0 0 1 0 0 ZNF765 91661 broad.mit.edu 37 19 53911911 53911911 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:53911911C>T ENST00000396408.3 + 4 1220 c.1103C>T c.(1102-1104)tCa>tTa p.S368L ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) AGTCGGAAGTCACATTTTACA 0.408000 61 170 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698517 96698517 + Missense_Mutation SNP A A T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:96698517A>T ENST00000260682.6 + 1 90 c.78A>T c.(76-78)agA>agT p.R26S CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 26 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GCTCTGGGAGAGGAAAACTCC 0.458000 74 107 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278535 50278535 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:50278535G>A ENST00000442544.2 + 2 819 c.203G>A c.(202-204)gGa>gAa p.G68E NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 68 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCCGACCGAGGAGTTCCAGTG 0.512000 29 70 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26906079 26906079 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:26906079C>T ENST00000231021.4 - 5 972 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 267 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R267Q(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTGGGGAAATCGAGGAGGGTT 0.428000 55 140 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140737079 140737079 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:140737079C>T ENST00000571252.1 + 1 2312 c.2312C>T c.(2311-2313)tCc>tTc p.S771F PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGATCTTCTCCCAACCCAGC 0.552000 31 131 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9730630 9730630 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:9730630C>T ENST00000296003.4 + 16 1419 c.1297C>T c.(1297-1299)Cga>Tga p.R433* MTMR14_ENST00000420925.1_Nonsense_Mutation_p.R187*|MTMR14_ENST00000353332.5_Nonsense_Mutation_p.R433*|MTMR14_ENST00000351233.5_Nonsense_Mutation_p.R433* NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 433 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) TCTTTTAGGACGAAAGGACCG 0.527000 23 86 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153221832 153221832 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:153221832G>A ENST00000310441.7 - 16 3632 c.2666C>T c.(2665-2667)aCc>aTc p.T889I HCFC1_ENST00000369984.4_Missense_Mutation_p.T889I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T820I NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 889 Interaction with GABP2.|Interaction with ZBTB17. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGTGGAGACGGTGCCTGTCAC 0.642000 35 31 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 128 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247076605 247076605 + Missense_Mutation SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:247076605A>G ENST00000366508.1 - 4 726 c.590T>C c.(589-591)gTt>gCt p.V197A AHCTF1_ENST00000391829.2_Missense_Mutation_p.V162A|AHCTF1_ENST00000326225.3_Missense_Mutation_p.V171A Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 162 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GATCTGTCCAACATCAGTGAC 0.408000 18 98 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488111 24488111 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:24488111C>T ENST00000264463.4 - 12 2535 c.2028G>A c.(2026-2028)agG>agA p.R676R CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 676 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTGCAGGATTCCTCAGGGTGC 0.473000 HNSCC(23;0.051) 37 89 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201127 71201127 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:71201127C>T ENST00000273936.4 + 1 430 c.371C>T c.(370-372)tCa>tTa p.S124L NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 124 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGGAATATTTCATCACCAGTT 0.378000 29 73 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612707 53612707 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:53612707G>A ENST00000455735.2 - 7 1055 c.735C>T c.(733-735)ttC>ttT p.F245F ZNF415_ENST00000243643.4_Silent_p.F197F|ZNF415_ENST00000421033.1_Silent_p.F209F|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.F184F|ZNF415_ENST00000500065.4_Silent_p.F197F|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.F245F|ZNF415_ENST00000594011.1_3'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) AAGAACAGATGAAATCAGTCC 0.378000 36 97 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13134686 13134686 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:13134686G>A ENST00000399002.2 + 10 1590 c.1316G>A c.(1315-1317)aGa>aAa p.R439K SPTLC3_ENST00000378194.4_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 439 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AAAAACACAAGATACTTCAGA 0.438000 40 89 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934850 28934850 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:28934850G>A ENST00000257192.4 + 15 2903 c.2691G>A c.(2689-2691)agG>agA p.R897R RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.R256R NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 897 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGACAGAAAGGGTAATAGCAC 0.463000 72 171 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36017588 36017588 + Missense_Mutation SNP A A C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:36017588A>C ENST00000452271.2 - 1 1624 c.1596T>G c.(1594-1596)aaT>aaG p.N532K SBSN_ENST00000518157.1_Missense_Mutation_p.N189K NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 189 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGTTGACCCCATTATGAGCAT 0.592000 41 147 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358395 10358395 + Splice_Site SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:10358395C>T ENST00000255381.2 - 21 2409 c.e21-1 CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGAAGAAAACCTTATGAAAGA 0.403000 34 109 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27320678 27320678 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:27320678G>A ENST00000407991.1 - 6 1890 c.1282C>T c.(1282-1284)Cat>Tat p.H428Y CHRNA2_ENST00000520933.2_Missense_Mutation_p.H428Y|CHRNA2_ENST00000240132.2_Missense_Mutation_p.H413Y NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 428 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GGGGCCACATGACCTGCACAT 0.647000 33 92 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57075434 57075434 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:57075434C>T ENST00000436936.1 + 18 3202 c.2977C>T c.(2977-2979)Cag>Tag p.Q993* NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q993*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q993*|NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q993* Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 993 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCACCTAGAGCAGCTCTGCAA 0.582000 14 60 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157784 65157784 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:65157784C>T ENST00000323544.4 + 6 1298 c.1170C>T c.(1168-1170)tcC>tcT p.S390S AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 390 NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCTGCTCCTCCCTTGGGGACT 0.647000 28 62 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43058294 43058294 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:43058294G>A ENST00000316099.3 + 10 1503 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K HNF4A_ENST00000457232.1_Missense_Mutation_p.E440K|HNF4A_ENST00000415691.1_Missense_Mutation_p.E462K NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 472 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CACCAAGCAGGAAGTTATCTA 0.632000 54 167 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79181171 79181171 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:79181171G>A ENST00000554719.1 + 5 1105 c.614G>A c.(613-615)gGa>gAa p.G205E NRXN3_ENST00000335750.5_Missense_Mutation_p.G205E NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 211 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GACCTGGAAGGAGACATGTAC 0.592000 56 162 0 0 1 0 0 ALOX5AP 241 broad.mit.edu 37 13 31318201 31318201 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:31318201C>T ENST00000380490.3 + 2 173 c.75C>T c.(73-75)ttC>ttT p.F25F ALOX5AP_ENST00000479597.1_3'UTR NM_001204406.1|NM_001629.3 NP_001191335.1|NP_001620.2 P20292 AL5AP_HUMAN arachidonate 5-lipoxygenase-activating protein 25 Inhibitor binding. cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane arachidonic acid binding|protein N-terminus binding p.F25L(1) endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864) TGGCAGGATTCTTTGCCCATA 0.493000 17 58 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30680869 30680869 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:30680869G>A ENST00000376406.3 - 5 1497 c.850C>T c.(850-852)Cca>Tca p.P284S MDC1_ENST00000376405.2_Missense_Mutation_p.P284S|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 284 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 ACCCCAGCTGGAACCACCCCA 0.522000 Other conserved DNA damage response genes 49 138 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821654 5821654 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:5821654G>A ENST00000381095.3 - 5 1692 c.1065C>T c.(1063-1065)atC>atT p.I355I NLGN4X_ENST00000381092.1_Silent_p.I355I|NLGN4X_ENST00000275857.6_Silent_p.I355I|NLGN4X_ENST00000381093.2_Silent_p.I375I|NLGN4X_ENST00000538097.1_Silent_p.I355I NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 355 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GCTCCATCAGGATCTGGGGGT 0.597000 28 28 0 0 1 0 0 PIH1D3 139212 broad.mit.edu 37 X 106482197 106482197 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:106482197G>A ENST00000535523.1 + 7 812 c.475G>A c.(475-477)Gat>Aat p.D159N PIH1D3_ENST00000372453.3_Missense_Mutation_p.D159N|PIH1D3_ENST00000336387.4_Missense_Mutation_p.D159N NM_001169154.1 NP_001162625.1 PIH1 domain containing 3 TATTCAAATTGATATCCAGGA 0.308000 17 37 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058264 56058264 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:56058264G>A ENST00000313022.2 - 1 302 c.275C>T c.(274-276)tCc>tTc p.S92F NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GCCCATGAAGGAAATATAGTT 0.398000 113 359 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86196336 86196336 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:86196336G>A ENST00000370571.2 - 60 5404 c.5038C>T c.(5038-5040)Cac>Tac p.H1680Y COL24A1_ENST00000436319.1_Missense_Mutation_p.H1659Y NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1680 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCTGGGTGTGAAAAAGAAAT 0.368000 32 105 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740711 37740711 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:37740711G>A ENST00000539465.1 + 15 2779 c.2186G>A c.(2185-2187)cGg>cAg p.R729Q FRMPD1_ENST00000541302.1_Missense_Mutation_p.R598Q|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R551Q|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R729Q Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 729 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) ACAGCTTCCCGGCAAGGGGGA 0.647000 16 53 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250535 1250535 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:1250535C>T ENST00000348261.5 + 7 1331 c.1083C>T c.(1081-1083)ttC>ttT p.F361F CACNA1H_ENST00000565831.1_Silent_p.F361F|CACNA1H_ENST00000358590.4_Silent_p.F361F NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 361 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) CCATCAACTTCGACAACATCG 0.647000 26 81 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5430102 5430102 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:5430102G>A ENST00000399434.2 - 3 437 c.279C>T c.(277-279)gtC>gtT p.V93V TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron O15417 TNC18_HUMAN trinucleotide repeat containing 18 0 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCCAACCCCGGACTCCAGTCT 0.622000 7 56 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847548 123847548 + Missense_Mutation SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:123847548C>A ENST00000531945.1 - 1 940 c.851G>T c.(850-852)gGg>gTg p.G284V NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGCAGGGGCCCCAGCTCCTGC 0.557000 47 151 3.50607e-19 3.57861e-19 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11795111 11795111 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:11795111C>T ENST00000262442.3 + 58 11198 c.11130C>T c.(11128-11130)ttC>ttT p.F3710F DNAH9_ENST00000396001.2_Silent_p.F22F|DNAH9_ENST00000454412.2_Silent_p.F3710F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3710 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTATCGTCTTCCAGAAGGCTG 0.517000 53 143 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48459866 48459866 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:48459866C>T ENST00000358536.4 - 14 3310 c.3041G>A c.(3040-3042)gGg>gAg p.G1014E PLXNB1_ENST00000358459.4_Missense_Mutation_p.G831E|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G1014E|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G831E|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1014 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACCATGCAGCCCCTCAGCACT 0.667000 15 36 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150647238 150647238 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:150647238C>T ENST00000430723.3 - 9 2428 c.2416G>A c.(2416-2418)Ggc>Agc p.G806S KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000262186.5_Intron|KCNH2_ENST00000330883.4_Intron NM_172056.2 NP_742053.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 0 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) AGTCCAGTGCCCGCCCCCCAC 0.647000 51 45 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128392735 128392735 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:128392735G>A ENST00000389524.4 + 42 5732 c.5679G>A c.(5677-5679)cgG>cgA p.R1893R MYO7B_ENST00000409090.1_Silent_p.R745R|MYO7B_ENST00000409816.2_Silent_p.R1892R|MYO7B_ENST00000428314.1_Silent_p.R1892R Q6PIF6 MYO7B_HUMAN myosin VIIB 1892 FERM 2.|MyTH4 3. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACTTCATGCGGAAATTGTGGC 0.627000 8 25 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127469919 127469919 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:127469919C>T ENST00000262461.2 + 6 1440 c.1251C>T c.(1249-1251)gtC>gtT p.V417V SLC12A2_ENST00000343225.4_Silent_p.V417V NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 417 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCATTACAGTCGTGATTCTTT 0.323000 56 161 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604270 179604270 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179604270C>T ENST00000589042.1 - 48 13914 c.13690G>A c.(13690-13692)Gaa>Aaa p.E4564K TTN_ENST00000359218.5_Missense_Mutation_p.E4326K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4393K|TTN_ENST00000591111.1_Missense_Mutation_p.E4247K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4201K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4247 Ig-like 25. 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) TCTTGTTTTTCGTCAGAGACA 0.428000 33 82 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463723 25463723 + RNA SNP T T C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:25463723T>C ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 TACATCCGGGTTCCACTGGAT 0.552000 74 187 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964547 88964547 + Missense_Mutation SNP G G C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:88964547G>C ENST00000333190.4 + 4 2860 c.2251G>C c.(2251-2253)Gaa>Caa p.E751Q NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 751 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CCACTCAGTTGAAAGGCACAA 0.403000 HNSCC(36;0.09) 16 62 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116397530 116397530 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:116397530C>T ENST00000397752.3 + 7 2102 c.1902C>T c.(1900-1902)ttC>ttT p.F634F MET_ENST00000436117.2_Silent_p.F634F|MET_ENST00000318493.6_Silent_p.F634F NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 634 IPT/TIG 1. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATAAGCATTTCAATATGTCCA 0.348000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 37 113 0 0 1 0 0 YTHDF3 253943 broad.mit.edu 37 8 64099080 64099080 + Translation_Start_Site SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:64099080G>A ENST00000542911.2 + 0 764 YTHDF3_ENST00000539294.1_Missense_Mutation_p.A170T|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron Q7Z739 YTHD3_HUMAN YTH domain family, member 3 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) TGATGGACAGGCTGGATTTGG 0.458000 11 43 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789669 133789669 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:133789669C>T ENST00000321016.8 - 18 4181 c.3951G>A c.(3949-3951)ccG>ccA p.P1317P IGSF9B_ENST00000533871.2_Silent_p.P1317P Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1317 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GTGGGGTCTCCGGTCGGAGCA 0.697000 5 20 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133244129 133244129 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:133244129G>A ENST00000320574.5 - 20 2322 c.2279C>T c.(2278-2280)gCc>gTc p.A760V POLE_ENST00000535270.1_Missense_Mutation_p.A733V NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 760 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTCCCGGAAGGCACGCACGGT 0.572000 DNA polymerases (catalytic subunits) 156 221 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32928527 32928527 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:32928527G>A ENST00000361627.3 + 12 2275 c.1553G>A c.(1552-1554)cGg>cAg p.R518Q ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.R329Q|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.R329Q NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 518 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) ACAAATTACCGGATGTCTTGG 0.378000 35 91 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99662020 99662020 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:99662020C>T ENST00000292450.4 + 4 1366 c.1202C>T c.(1201-1203)gCg>gTg p.A401V ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 401 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) AGTCAGCATGCGGGCCTCAGC 0.522000 4 173 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16001103 16001103 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:16001103C>T ENST00000350896.3 - 8 1194 c.997G>A c.(997-999)Ggc>Agc p.G333S MSR1_ENST00000262101.5_Missense_Mutation_p.G333S|MSR1_ENST00000381998.4_Missense_Mutation_p.G333S|MSR1_ENST00000355282.2_Missense_Mutation_p.G333S|MSR1_ENST00000445506.2_Missense_Mutation_p.G351S|MSR1_ENST00000536385.1_Missense_Mutation_p.G107S NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 369 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCTTTCTGGCCTTTTGGTCCA 0.343000 27 55 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111624196 111624196 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:111624196G>A ENST00000527614.1 - 9 1200 c.1135C>T c.(1135-1137)Cct>Tct p.P379S PPP2R1B_ENST00000427203.2_Missense_Mutation_p.P218S|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.P315S|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.P252S|PPP2R1B_ENST00000341980.6_Intron|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.P379S NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 379 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) AAGAAAAGAGGTAGAAGATGT 0.353000 15 55 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196434428 196434428 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:196434428G>A ENST00000451324.2 - 8 682 c.13C>T c.(13-15)Cac>Tac p.H5Y KCNT2_ENST00000294725.8_Silent_p.F211F|KCNT2_ENST00000367433.5_Silent_p.F211F|KCNT2_ENST00000367431.4_Silent_p.F211F|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 0 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CTTACCAGGTGAAGATAAGGC 0.269000 47 75 0 0 1 0 0 FAM166B 730112 broad.mit.edu 37 9 35562962 35562962 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:35562962C>T ENST00000399742.2 - 3 472 c.402G>A c.(400-402)aaG>aaA p.K134K FAM166B_ENST00000492890.1_5'UTR NM_001099951.2|NM_001164310.1 NP_001093421.1|NP_001157782.1 A8MTA8 F166B_HUMAN family with sequence similarity 166, member B 134 kidney(3)|large_intestine(1)|lung(4)|ovary(1) 9 CCTTGGCCTCCTTTGGTAGCT 0.557000 26 66 0 0 1 0 0 CTHRC1 115908 broad.mit.edu 37 8 104388038 104388038 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:104388038C>T ENST00000330295.5 + 2 365 c.223C>T c.(223-225)Ccg>Tcg p.P75S CTHRC1_ENST00000520337.1_Missense_Mutation_p.P61S|CTHRC1_ENST00000415886.2_Missense_Mutation_p.P75S NM_138455.3 NP_612464.1 Q96CG8 CTHR1_HUMAN collagen triple helix repeat containing 1 75 Collagen-like. collagen endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) CAATGGCATTCCGGGTACACC 0.517000 44 212 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155838351 155838351 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:155838351G>A ENST00000368324.4 + 2 883 c.630G>A c.(628-630)gtG>gtA p.V210V SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 210 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GGCATCGGGTGAAGACCAGAG 0.572000 27 132 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 5 237 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54444853 54444853 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:54444853C>T ENST00000391767.1 + 5 766 c.554C>T c.(553-555)tCc>tTc p.S185F CACNG7_ENST00000391766.1_Missense_Mutation_p.S185F|CACNG7_ENST00000222212.2_Missense_Mutation_p.S185F P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 185 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|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GCCGCTTCCTCCTTCCTACTC 0.537000 69 149 0 0 1 0 0 TEAD3 7005 broad.mit.edu 37 6 35443834 35443834 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:35443834C>T ENST00000338863.7 - 10 989 c.762G>A c.(760-762)acG>acA p.T254T TEAD3_ENST00000402886.3_Silent_p.T194T NM_003214.3 NP_003205.2 Q99594 TEAD3_HUMAN TEA domain family member 3 254 Transcriptional activation (Potential). T -> M (in dbSNP:rs35080860). female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 AGGCGGGGTTCGTCTGGCCGA 0.587000 8 29 0 0 1 0 0 STK32A 202374 broad.mit.edu 37 5 146703479 146703479 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:146703479G>A ENST00000397936.3 + 5 612 c.279G>A c.(277-279)gaG>gaA p.E93E STK32A_ENST00000398521.3_Silent_p.E93E|STK32A_ENST00000541094.1_Silent_p.E93E|STK32A_ENST00000398523.3_Silent_p.E93E NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A 93 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAAGATGAGGAAGACATGT 0.423000 10 28 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20573375 20573375 + Missense_Mutation SNP C C T rs148864984 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:20573375C>T ENST00000399722.2 + 11 1936 c.1585C>T c.(1585-1587)Cca>Tca p.P529S RBBP8_ENST00000399725.2_Missense_Mutation_p.P529S|RBBP8_ENST00000327155.5_Missense_Mutation_p.P529S|RBBP8_ENST00000360790.5_Missense_Mutation_p.P529S NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 529 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) GAAGACCATTCCAAAGGGCTT 0.463000 Homologous recombination 30 78 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41192876 41192876 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:41192876G>A ENST00000220509.5 + 4 2199 c.1860G>A c.(1858-1860)cgG>cgA p.R620R VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 620 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TGGGCAGCCGGCTGGATGCTC 0.607000 38 92 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073160 17073160 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr22:17073160C>T ENST00000359963.3 - 1 540 c.281G>A c.(280-282)gGa>gAa p.G94E NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 94 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTGGGTTTGTCCTGCTTCCCG 0.617000 26 59 0 0 1 0 0 INSL6 11172 broad.mit.edu 37 9 5164230 5164230 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:5164230C>T ENST00000381641.3 - 2 390 c.325G>A c.(325-327)Gaa>Aaa p.E109K INSL6_ENST00000510407.1_5'UTR NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 109 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GACTGCATTTCCCAACTGTTT 0.318000 29 113 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37652981 37652981 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:37652981C>T ENST00000378588.4 + 5 468 c.401C>T c.(400-402)tCt>tTt p.S134F TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.S102F|CYBB_ENST00000536160.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 134 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 GTCAATAATTCTGATCCTTAT 0.388000 43 35 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13700919 13700919 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:13700919G>A ENST00000265104.4 - 78 13657 c.13553C>T c.(13552-13554)aCc>aTc p.T4518I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4518 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CATCCATTTGGTGACTTCATT 0.483000 Kartagener syndrome 52 152 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131785584 131785584 + Missense_Mutation SNP A A T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:131785584A>T ENST00000392953.3 + 5 1013 c.494A>T c.(493-495)tAt>tTt p.Y165F ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Y165F|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Y94F|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Y165F|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Y165F NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 165 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GAGGACCTGTATGATGACCTG 0.632000 11 49 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26455081 26455081 + Missense_Mutation SNP G G A rs56403976 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:26455081G>A ENST00000265944.5 + 27 3251 c.3085G>A c.(3085-3087)Gat>Aat p.D1029N MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1029 Myosin head-like. 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 AGCTGGTCTCGATAACTGGGC 0.403000 79 245 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919272 21919272 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:21919272G>A ENST00000240662.2 - 3 1005 c.660C>T c.(658-660)atC>atT p.I220I RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 220 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) AGGCACTAATGATCATGCTTT 0.498000 35 115 0 0 1 0 0 FAM58A 92002 broad.mit.edu 37 X 152858169 152858169 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:152858169G>A ENST00000406277.2 - 6 548 c.446C>T c.(445-447)tCc>tTc p.S149F FAM58A_ENST00000370175.4_5'UTR NM_001130997.1|NM_152274.3 NP_001124469.1|NP_689487.2 Q8N1B3 FA58A_HUMAN family with sequence similarity 58, member A 151 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTTCTGGAGGGAAACCAGGTA 0.612000 9 6 0 0 1 0 0 NMS 129521 broad.mit.edu 37 2 101099725 101099725 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:101099725G>A ENST00000376865.1 + 10 468 c.461G>A c.(460-462)tGa>tAa p.*154* NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 0 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 ATTCAGTGGTGAAAGAAAGCT 0.348000 18 46 0 0 1 0 0 UTP11L 51118 broad.mit.edu 37 1 38478520 38478520 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:38478520C>T ENST00000373014.4 + 1 107 c.46C>T c.(46-48)Cac>Tac p.H16Y UTP11L_ENST00000537711.1_Missense_Mutation_p.H16Y NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 16 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCAGCGGGAACACAGAGAGCG 0.612000 56 170 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179609068 179609068 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:179609068G>A ENST00000444136.1 + 10 1865 c.1615G>A c.(1615-1617)Gat>Aat p.D539N TDRD5_ENST00000367614.1_Missense_Mutation_p.D539N|TDRD5_ENST00000294848.8_Missense_Mutation_p.D539N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 539 Tudor. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 GATTTCTGAGGATAAGTGGTG 0.428000 190 223 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167983660 167983660 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:167983660C>T ENST00000357154.3 - 4 364 c.227G>A c.(226-228)gGa>gAa p.G76E SPOCK3_ENST00000357545.4_Missense_Mutation_p.G73E|SPOCK3_ENST00000512648.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000504953.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G73E|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G25E NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 76 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GAAGGGTTTTCCTGGACTCCA 0.308000 28 101 0 0 1 0 0 FBXW8 26259 broad.mit.edu 37 12 117383327 117383327 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:117383327C>T ENST00000455858.2 + 3 457 c.384C>T c.(382-384)aaC>aaT p.N128N FBXW8_ENST00000309909.5_Silent_p.N194N NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 194 F-box. protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) TACGAACCAACTGGAAGGTGG 0.488000 19 47 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70518713 70518713 + Missense_Mutation SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:70518713C>A ENST00000310961.5 + 23 4293 c.3875C>A c.(3874-3876)cCg>cAg p.P1292Q LRRC7_ENST00000035383.5_Missense_Mutation_p.P1334Q|LRRC7_ENST00000415775.2_Missense_Mutation_p.P618Q Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1334 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CAATAGACCCCGTCCCAGCAA 0.408000 33 116 1.96642e-18 2.00365e-18 1 1 0 VSIG2 23584 broad.mit.edu 37 11 124621325 124621325 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:124621325G>A ENST00000403470.1 - 2 268 c.213C>T c.(211-213)tcC>tcT p.S71S VSIG2_ENST00000326621.5_Silent_p.S71S Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 71 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) TCACTGGATGGGACTCAGAGA 0.622000 33 119 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430145 43430145 + RNA SNP G G A rs140504359 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:43430145G>A ENST00000446844.3 - 0 1112 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GGTAATAGGTGAATGAAGGGT 0.468000 69 250 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36517066 36517066 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:36517066C>T ENST00000360535.4 - 6 891 c.664G>A c.(664-666)Gcc>Acc p.A222T AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.A222T NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 222 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCAGGGTTGGCGCCGTGCTCC 0.642000 20 48 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484616 43484616 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:43484616G>A ENST00000395891.1 + 11 2450 c.1845G>A c.(1843-1845)gaG>gaA p.E615E HECW1_ENST00000453890.1_Silent_p.E615E NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 615 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCCTGGAAGAGGACAGAGAAG 0.701000 5 35 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157000156 157000156 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:157000156C>T ENST00000348165.5 + 12 1843 c.1483C>T c.(1483-1485)Cga>Tga p.R495* NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 495 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) AGATTCTAGTCGAATCATCCC 0.373000 40 117 0 0 1 0 0 KLC1 3831 broad.mit.edu 37 14 104124053 104124053 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:104124053G>A ENST00000389744.4 + 3 701 c.432G>A c.(430-432)gaG>gaA p.E144E KLC1_ENST00000347839.6_Silent_p.E144E|KLC1_ENST00000557450.1_Silent_p.E144E|KLC1_ENST00000557575.1_Silent_p.E144E|KLC1_ENST00000445352.4_Silent_p.E144E|KLC1_ENST00000246489.7_Silent_p.E144E|KLC1_ENST00000554280.1_Silent_p.E144E|KLC1_ENST00000555836.1_Silent_p.E144E|KLC1_ENST00000334553.6_Silent_p.E144E|RP11-73M18.2_ENST00000472726.2_Silent_p.E316E|KLC1_ENST00000553286.1_Silent_p.E144E|KLC1_ENST00000452929.2_Silent_p.E144E|KLC1_ENST00000380038.3_Silent_p.E144E|KLC1_ENST00000348520.6_Silent_p.E144E Q07866 KLC1_HUMAN kinesin light chain 1 144 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) TGGAGGAGGAGAAGAAGCATC 0.473000 17 74 0 0 1 0 0 TSR3 115939 broad.mit.edu 37 16 1400959 1400959 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:1400959G>A ENST00000007390.2 - 3 481 c.375C>T c.(373-375)tcC>tcT p.S125S NM_001001410.2 NP_001001410.1 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) GCCTGGCCCAGGAGCAGTCGA 0.642000 20 74 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613737 179613737 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179613737C>T ENST00000360870.5 - 46 13612 c.13390G>A c.(13390-13392)Gaa>Aaa p.E4464K TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 592 Ig-like 24. 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) TGTAATTTTTCAAATTCGATA 0.338000 26 61 0 0 1 0 0 FAM182B 728882 broad.mit.edu 37 20 25848614 25848614 + Translation_Start_Site SNP C C A rs144456407 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:25848614C>A ENST00000376404.2 - 0 172 FAM182B_ENST00000478164.1_5'UTR lung(1) 1 ccgggcaggcctgaggctggg 0.667000 4 18 0.0215528 0.0215892 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54542433 54542433 + Missense_Mutation SNP T T C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:54542433T>C ENST00000545554.1 + 7 3239 c.3239T>C c.(3238-3240)gTc>gCc p.V1080A UNC13C_ENST00000260323.11_Missense_Mutation_p.V1080A|UNC13C_ENST00000537900.1_Missense_Mutation_p.V1078A Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1080 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAAATGCACGTCTTCAAGAAG 0.423000 8 52 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70279378 70279378 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:70279378C>T ENST00000346329.3 + 15 1635 c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S CTTN_ENST00000538675.1_Missense_Mutation_p.P164S|CTTN_ENST00000376561.3_Missense_Mutation_p.P443S|CTTN_ENST00000301843.8_Missense_Mutation_p.P480S NM_138565.2 NP_612632.1 Q14247 SRC8_HUMAN cortactin 480 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GGGCCACTATCCCGCAGGTAC 0.687000 12 29 0 0 1 0 0 PPWD1 23398 broad.mit.edu 37 5 64867905 64867905 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:64867905C>T ENST00000261308.5 + 5 833 c.761C>T c.(760-762)cCt>cTt p.P254L PPWD1_ENST00000535264.1_Missense_Mutation_p.P224L|PPWD1_ENST00000538977.1_Missense_Mutation_p.P98L NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 254 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) ACTGGGCCTCCTCATGAATAT 0.398000 33 113 0 0 1 0 0 RBM33 155435 broad.mit.edu 37 7 155493559 155493559 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:155493559C>T ENST00000401878.3 + 6 858 c.660C>T c.(658-660)ttC>ttT p.F220F RBM33_ENST00000287912.3_Silent_p.F220F|RBM33_ENST00000392759.3_Silent_p.F260F NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 220 Glu-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) GATTACGTTTCAAAACTGAAA 0.373000 14 9 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 52 68 0 0 1 0 0 DPPA3 359787 broad.mit.edu 37 12 7864234 7864234 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:7864234C>T ENST00000345088.2 + 1 185 c.68C>T c.(67-69)tCc>tTc p.S23F NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 23 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) GAAGAAAATTCCCGGGACGAT 0.468000 16 41 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112693 57112693 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:57112693G>A ENST00000454682.1 - 3 2902 c.2621C>T c.(2620-2622)tCt>tTt p.S874F NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TCCTTTGGGAGACAGAGGAGT 0.567000 T BCL6 NHL 9 35 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138698587 138698587 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:138698587C>T ENST00000520602.1 - 12 1510 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K MCF2_ENST00000370576.4_Missense_Mutation_p.E349K|MCF2_ENST00000414978.1_Missense_Mutation_p.E409K|MCF2_ENST00000370573.4_Missense_Mutation_p.E349K|MCF2_ENST00000536274.1_Missense_Mutation_p.E310K|MCF2_ENST00000370578.4_Missense_Mutation_p.E494K|MCF2_ENST00000519895.1_Missense_Mutation_p.E409K|MCF2_ENST00000338585.6_Missense_Mutation_p.E349K P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 349 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTATCTATTTCCTGATTAGCT 0.323000 36 41 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44218052 44218052 + Missense_Mutation SNP A A G rs146748945 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:44218052A>G ENST00000371554.1 + 6 887 c.673A>G c.(673-675)Att>Gtt p.I225V HSP90AB1_ENST00000371646.5_Missense_Mutation_p.I225V|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.I225V P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 225 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) agagaaggaaattagtgatga 0.413000 36 128 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118698861 118698861 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:118698861G>A ENST00000376300.2 - 19 1563 c.1426C>T c.(1426-1428)Cga>Tga p.R476* CCDC93_ENST00000319432.5_Nonsense_Mutation_p.R475* NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 476 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 GCTATTTCTCGATTTCTTCGA 0.443000 30 79 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 83 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45394109 45394109 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:45394109C>T ENST00000389039.6 - 21 3118 c.2733G>A c.(2731-2733)tcG>tcA p.S911S DUOX2_ENST00000603300.1_Silent_p.S911S Q9NRD8 DUOX2_HUMAN dual oxidase 2 911 EF-hand 3. 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) CCTGGAATCCCGACTCCCGGA 0.572000 30 72 0 0 1 0 0 BATF3 55509 broad.mit.edu 37 1 212860168 212860168 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:212860168G>A ENST00000243440.1 - 3 571 c.349C>T c.(349-351)Cgg>Tgg p.R117W BATF3_ENST00000478275.1_5'UTR NM_018664.2 NP_061134.1 Q9NR55 BATF3_HUMAN basic leucine zipper transcription factor, ATF-like 3 117 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781) GGGTCCGGCCGGGGAGGCACT 0.612000 28 108 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767021 77767021 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:77767021G>A ENST00000521891.2 + 10 8312 c.7864G>A c.(7864-7866)Gaa>Aaa p.E2622K ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2596K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2577K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2577K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2577 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATACTCTATGAAAAATACTT 0.453000 HNSCC(33;0.089) 7 33 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84182624 84182624 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:84182624C>T ENST00000378553.5 + 2 261 c.137C>T c.(136-138)cCt>cTt p.P46L DNAAF1_ENST00000334315.5_Missense_Mutation_p.P46L NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 46 Missing (in CILD13). axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 ATTAATGATCCTAAGGAAATA 0.418000 22 73 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35928312 35928312 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:35928312G>A ENST00000374694.1 - 1 2050 c.2046C>T c.(2044-2046)tcC>tcT p.S682S NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 682 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 GATAAGACACGGAGCTCGCCG 0.746000 3 11 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91835652 91835652 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:91835652G>A ENST00000394232.1 + 13 2392 c.1922G>A c.(1921-1923)gGa>gAa p.G641E SV2B_ENST00000330276.4_Missense_Mutation_p.G641E|SV2B_ENST00000545111.2_Missense_Mutation_p.G490E NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 641 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GCCATCCTGGGAAACACCATC 0.473000 36 123 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199454 4199454 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:4199454G>A ENST00000296358.4 - 5 1131 c.1107C>T c.(1105-1107)atC>atT p.I369I NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 369 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTAAATCCGGATTCCAGCCA 0.582000 39 105 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73721309 73721309 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:73721309C>T ENST00000427855.1 + 13 1493 c.1391C>T c.(1390-1392)tCc>tTc p.S464F PAPLN_ENST00000340738.5_Missense_Mutation_p.S437F|PAPLN_ENST00000555445.1_Missense_Mutation_p.S464F|PAPLN_ENST00000381166.3_Missense_Mutation_p.S464F|PAPLN_ENST00000554301.1_Missense_Mutation_p.S464F O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 464 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCAGCGTGCTCCTTGGAAGAC 0.602000 51 160 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92258028 92258028 + Missense_Mutation SNP A A C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:92258028A>C ENST00000298047.6 + 2 3538 c.3521A>C c.(3520-3522)gAt>gCt p.D1174A FAT3_ENST00000525166.1_Missense_Mutation_p.D1024A|FAT3_ENST00000409404.2_Missense_Mutation_p.D1174A|FAT3_ENST00000541502.1_Missense_Mutation_p.D1174A Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1174 Cadherin 11. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGGCTGAAGATCCTGACTCC 0.408000 TCGA Ovarian(4;0.039) 8 33 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95497824 95497824 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:95497824C>T ENST00000432432.2 - 0 1019 NR_040113.1 GACACTTTCTCGGGGACACAC 0.353000 77 198 0 0 1 0 0 IMMP2L 83943 broad.mit.edu 37 7 110303777 110303777 + Splice_Site SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:110303777C>T ENST00000405709.2 - 6 851 c.408_splice c.e6-1 p.V137_splice IMMP2L_ENST00000450877.1_Splice_Site_p.V119_splice|IMMP2L_ENST00000452895.1_Splice_Site_p.V137_splice|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000415362.1_Splice_Site_p.V137_splice|IMMP2L_ENST00000331762.3_Splice_Site_p.V137_splice NM_032549.3 NP_115938.1 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 137 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) CCTAGGGAAACCTTAATTCAT 0.413000 12 70 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 41 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134118747 134118747 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:134118747C>T ENST00000452510.2 + 9 1316 c.1158C>T c.(1156-1158)tcC>tcT p.S386S DDX46_ENST00000354283.4_Silent_p.S386S|DDX46_ENST00000509178.1_3'UTR NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 386 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTTAAATTCCCTCAAGAAGT 0.413000 28 90 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48587554 48587554 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:48587554G>A ENST00000232375.3 - 2 323 c.211C>T c.(211-213)Cgg>Tgg p.R71W PFKFB4_ENST00000545984.1_Missense_Mutation_p.R71W|PFKFB4_ENST00000541519.1_Missense_Mutation_p.R37W|PFKFB4_ENST00000536104.1_Missense_Mutation_p.R60W|PFKFB4_ENST00000383734.2_Missense_Mutation_p.R71W|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Missense_Mutation_p.R71W NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 71 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GCCTCACCCCGAGTGGGCACA 0.562000 20 64 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178556940 178556940 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:178556940G>A ENST00000251582.7 - 16 2551 c.2450C>T c.(2449-2451)aCc>aTc p.T817I NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 817 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACCAGAACGGTGATGGTGCC 0.662000 19 62 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765901 77765901 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:77765901C>T ENST00000521891.2 + 10 7192 c.6744C>T c.(6742-6744)aaC>aaT p.N2248N ZFHX4_ENST00000518282.1_Silent_p.N2222N|ZFHX4_ENST00000455469.2_Silent_p.N2203N|ZFHX4_ENST00000050961.6_Silent_p.N2203N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2203 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGACACAAACGCTTACCCAA 0.403000 HNSCC(33;0.089) 10 42 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024483 55024483 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:55024483C>T ENST00000324000.3 + 3 2676 c.642C>T c.(640-642)atC>atT p.I214I NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 214 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.I214I(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) ACCCCAGCATCCTGGAAAAAT 0.408000 35 89 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141248397 141248397 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:141248397G>A ENST00000287008.3 - 2 787 c.640C>T c.(640-642)Cag>Tag p.Q214* PCDH1_ENST00000503492.1_Nonsense_Mutation_p.Q214*|PCDH1_ENST00000536585.1_Nonsense_Mutation_p.Q192*|PCDH1_ENST00000394536.3_Nonsense_Mutation_p.Q214*|PCDH1_ENST00000456271.1_Intron NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 214 Cadherin 2. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) AATAGCTCCTGGGCCTCAGGC 0.607000 44 115 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343091 40343091 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:40343091C>T ENST00000301671.8 - 5 1468 c.1027G>A c.(1027-1029)Gcc>Acc p.A343T GHDC_ENST00000428494.2_Missense_Mutation_p.A304T|GHDC_ENST00000593209.1_Missense_Mutation_p.A343T|GHDC_ENST00000414034.3_Missense_Mutation_p.A343T|GHDC_ENST00000436923.2_Missense_Mutation_p.A343T|GHDC_ENST00000587427.1_Missense_Mutation_p.A343T Q8N2G8 GHDC_HUMAN GH3 domain containing 343 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CCCTGCTGGGCCTCGGCCAAA 0.657000 30 85 0 0 1 0 0 LTB4R2 56413 broad.mit.edu 37 14 24780831 24780831 + Missense_Mutation SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:24780831A>G ENST00000528054.1 + 1 2671 c.1054A>G c.(1054-1056)Agg>Ggg p.R352G LTB4R2_ENST00000533293.1_Missense_Mutation_p.R321G|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R321G|LTB4R_ENST00000345363.3_5'UTR Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 352 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) CGGCCGCTCTAGGGAAGGGAC 0.682000 37 87 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43246329 43246329 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:43246329G>A ENST00000422911.1 - 14 1888 c.1787C>T c.(1786-1788)cCg>cTg p.P596L PRDM15_ENST00000269844.3_Missense_Mutation_p.P905L|PRDM15_ENST00000538201.1_Missense_Mutation_p.P559L|PRDM15_ENST00000447207.2_Missense_Mutation_p.P539L|PRDM15_ENST00000398548.1_Missense_Mutation_p.P576L P57071 PRD15_HUMAN PR domain containing 15 905 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GCCACACACCGGGCACCCGGA 0.542000 59 145 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17401363 17401363 + Missense_Mutation SNP T T C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:17401363T>C ENST00000375486.4 - 13 1600 c.1537A>G c.(1537-1539)Atc>Gtc p.I513V PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.I397V NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 513 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) TTGAACATGATGGCCTCTCCA 0.582000 14 38 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686185 108686185 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:108686185C>T ENST00000312143.7 - 3 918 c.555G>A c.(553-555)ggG>ggA p.G185G CMKLR1_ENST00000550402.1_Silent_p.G185G|CMKLR1_ENST00000552995.1_Silent_p.G183G|CMKLR1_ENST00000412676.1_Silent_p.G185G|CMKLR1_ENST00000397688.2_Silent_p.G183G NM_001142344.1|NM_004072.2 NP_001135816.1|NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 185 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 AGGATATTTTCCCATGCAGGT 0.567000 37 69 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84362659 84362659 + Missense_Mutation SNP C C T rs140076762 byFrequency TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:84362659C>T ENST00000509231.1 - 1 1395 c.1316G>A c.(1315-1317)cGa>cAa p.R439Q SATL1_ENST00000395409.3_Missense_Mutation_p.R252Q|SATL1_ENST00000332921.5_Missense_Mutation_p.R252Q Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 252 Acetyl-CoA binding (By similarity).|N-acetyltransferase. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 CCACATGCCTCGTTGCCACAT 0.552000 86 72 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52882288 52882288 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:52882288C>T ENST00000330722.6 - 7 1316 c.1248G>A c.(1246-1248)ggG>ggA p.G416G NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 416 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GGGCCATCTCCCCACGCTGCT 0.582000 42 142 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903404 4903404 + Missense_Mutation SNP G G T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:4903404G>T ENST00000380378.1 + 1 356 c.356G>T c.(355-357)cGg>cTg p.R119L MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R92L|MMP26_ENST00000477339.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTCATGCCCGGGAGATCAGC 0.488000 34 98 6.05902e-23 6.21653e-23 1 1 0 TMEM171 134285 broad.mit.edu 37 5 72424277 72424277 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:72424277C>T ENST00000454765.2 + 3 1174 c.701C>T c.(700-702)tCt>tTt p.S234F TMEM171_ENST00000287773.5_Missense_Mutation_p.S234F Q8WVE6 TM171_HUMAN transmembrane protein 171 234 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) TCTTCAGCTTCTGCGGTCGCT 0.413000 93 275 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88423594 88423594 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:88423594G>A ENST00000394480.1 - 18 2520 c.2199C>T c.(2197-2199)ttC>ttT p.F733F NTRK3_ENST00000357724.2_Silent_p.F739F|NTRK3_ENST00000557856.1_Silent_p.F725F|NTRK3_ENST00000355254.2_Silent_p.F733F|NTRK3_ENST00000360948.2_Silent_p.F747F NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 747 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TCTCTGTAGTGAACTTCCGGT 0.507000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 20 68 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126370393 126370393 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:126370393G>A ENST00000337318.3 - 4 900 c.689C>T c.(688-690)tCt>tTt p.S230F FAM53B_ENST00000280780.6_Missense_Mutation_p.S230F|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.S230F NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 230 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) ATGTGAGCAAGAGAGGGACCG 0.642000 6 10 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91552220 91552220 + Silent SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:91552220A>G ENST00000052754.5 - 4 892 c.391T>C c.(391-393)Ttg>Ctg p.L131L DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000552962.1_Silent_p.L131L|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Silent_p.L131L NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 131 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 AGTCGTTCCAACTTCACCAAA 0.393000 56 149 0 0 1 0 0 TAS2R50 259296 broad.mit.edu 37 12 11138717 11138717 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:11138717G>A ENST00000506868.1 - 1 794 c.743C>T c.(742-744)tCg>tTg p.S248L TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 248 sensory perception of taste integral to membrane G-protein coupled receptor activity p.S248L(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 ACTCCAAACCGAAACGATTAG 0.443000 43 106 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159921544 159921544 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:159921544G>A ENST00000368093.3 - 4 893 c.777C>T c.(775-777)gtC>gtT p.V259V SLAMF9_ENST00000368092.3_Silent_p.V168V|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 259 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTCTTTTCTGGACTCGGATGA 0.507000 49 232 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23189565 23189565 + Missense_Mutation SNP G G A rs142113032 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:23189565G>A ENST00000400191.3 + 4 865 c.847G>A c.(847-849)Gat>Aat p.D283N EPHB2_ENST00000374632.3_Missense_Mutation_p.D283N|EPHB2_ENST00000374630.3_Missense_Mutation_p.D283N|EPHB2_ENST00000544305.1_Missense_Mutation_p.D283N|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.D277N NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 283 Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CAACCAAGGGGATGAGGCCTG 0.562000 47 165 0 0 1 0 0 IDUA 3425 broad.mit.edu 37 4 997863 997863 + Missense_Mutation SNP G G C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:997863G>C ENST00000453894.1 + 10 1945 c.1857G>C c.(1855-1857)agG>agC p.R619S IDUA_ENST00000514224.1_Missense_Mutation_p.R465S|IDUA_ENST00000247933.4_Missense_Mutation_p.R597S P35475 IDUA_HUMAN iduronidase, alpha-L- 597 R -> G (in MPS1H/S; 1.5% of normal activity). disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) CGGTCAGCAGGAAGCCATCGA 0.617000 75 188 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28272896 28272896 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:28272896G>A ENST00000305242.5 - 6 787 c.695C>T c.(694-696)tCa>tTa p.S232L ARMC4_ENST00000239715.3_Missense_Mutation_p.S89L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 232 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACATCCATTTGAAAATTCATA 0.403000 28 65 0 0 1 0 0 TRAJ28 28727 broad.mit.edu 37 14 22984637 22984637 + RNA SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:22984637G>A ENST00000390509.1 + 0 37 CTCACTTTCGGGAAGGGGACC 0.463000 10 16 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 95 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104133271 104133271 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:104133271C>T ENST00000259407.2 - 2 524 c.416G>A c.(415-417)cGa>cAa p.R139Q BAAT_ENST00000395051.3_Missense_Mutation_p.R139Q NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 139 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) AACCTTAATTCGTGTGACACC 0.433000 38 111 0 0 1 0 0 CREB3L1 90993 broad.mit.edu 37 11 46332687 46332687 + Missense_Mutation SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:46332687A>G ENST00000529193.1 + 5 1151 c.700A>G c.(700-702)Atg>Gtg p.M234V CREB3L1_ENST00000288400.3_Missense_Mutation_p.M234V Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 234 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) TGTCAGGCCCATGGCGCGCTC 0.662000 T FUS myxofibrosarcoma 18 50 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40360450 40360450 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:40360450C>T ENST00000338305.6 - 3 2144 c.1602G>A c.(1600-1602)atG>atA p.M534I NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 534 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TGACCAGGATCATGGTGCCGC 0.612000 30 70 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779920 36779920 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:36779920C>T ENST00000416516.2 - 2 721 c.231G>A c.(229-231)ggG>ggA p.G77G NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 77 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CGGGGATCTTCCCCTGGTGCC 0.607000 71 186 0 0 1 0 0 IGHV3-20 28445 broad.mit.edu 37 14 106667641 106667641 + RNA SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:106667641G>A ENST00000390606.2 - 0 352 GCAGATACAGGGAGTTCTTGG 0.522000 117 306 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37186482 37186482 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:37186482G>A ENST00000274258.7 - 24 4325 c.738C>T c.(736-738)ttC>ttT p.F246F C5orf42_ENST00000508244.1_Silent_p.F1365F|C5orf42_ENST00000425232.2_Silent_p.F1365F E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1365 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATGCTTTCACGAAAATTTCTG 0.328000 23 90 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78907151 78907151 + Missense_Mutation SNP G G A rs118069479 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:78907151G>A ENST00000545128.1 + 25 3683 c.3145G>A c.(3145-3147)Gat>Aat p.D1049N NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 749 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TTTTCCAGATGATCCAGGAAC 0.363000 48 108 0 0 1 0 0 CHCHD7 79145 broad.mit.edu 37 8 57128950 57128950 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:57128950C>T ENST00000518801.1 + 4 241 c.93C>T c.(91-93)atC>atT p.I31I CHCHD7_ENST00000303759.3_Intron|CHCHD7_ENST00000519367.1_Silent_p.I19I|CHCHD7_ENST00000517933.1_Intron|CHCHD7_ENST00000521524.1_Silent_p.I31I|CHCHD7_ENST00000523061.1_Intron|CHCHD7_ENST00000521831.1_Silent_p.I19I|CHCHD7_ENST00000396723.5_Intron|CHCHD7_ENST00000523975.1_Intron|CHCHD7_ENST00000355315.3_Intron Q9BUK0 CHCH7_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 7 0 CHCH. CHCHD7/PLAG1(12) endometrium(1) 1 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00159)|all cancers(17;0.0112) gcttTTAGATCCTGTTCTACC 0.353000 T PLAG1 salivary adenoma 9 34 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99942489 99942489 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:99942489C>T ENST00000524871.1 + 12 1642 c.1352C>T c.(1351-1353)tCa>tTa p.S451L CNTN5_ENST00000418526.2_Missense_Mutation_p.S377L|CNTN5_ENST00000527185.1_Missense_Mutation_p.S451L|CNTN5_ENST00000279463.3_Missense_Mutation_p.S451L|CNTN5_ENST00000528682.1_Missense_Mutation_p.S451L NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 451 Ig-like C2-type 4. 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) GTGAATCAATCAGATGCTGGA 0.343000 5 18 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66466210 66466210 + RNA SNP C C T rs147345298 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:66466210C>T ENST00000424345.1 + 0 843 acctgagtgactctctcctag 0.438000 3 21 0 0 1 0 0 FAM181A 90050 broad.mit.edu 37 14 94395412 94395412 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:94395412G>A ENST00000267594.5 + 3 1274 c.967G>A c.(967-969)Ggc>Agc p.G323S FAM181A_ENST00000557719.1_Missense_Mutation_p.G261S|FAM181A_ENST00000557000.2_Missense_Mutation_p.G261S|FAM181A_ENST00000556222.1_Missense_Mutation_p.G261S NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 323 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GGATGTGGACGGCCTGGGGCA 0.652000 25 73 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399484 90399484 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:90399484C>T ENST00000337338.5 + 3 1264 c.857C>T c.(856-858)gCc>gTc p.A286V LRRC8D_ENST00000394593.3_Missense_Mutation_p.A286V NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 286 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) CAGGCCAAAGCCCTGTTTGAG 0.418000 18 42 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72992838 72992838 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:72992838G>A ENST00000268489.5 - 2 1879 c.1207C>T c.(1207-1209)Ctt>Ttt p.L403F ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 403 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGCCCGCCAAGGTTCAACAGG 0.642000 53 157 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793074 65793074 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:65793074C>T ENST00000312106.5 - 1 914 c.777G>A c.(775-777)ggG>ggA p.G259G NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 259 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 agtCAGATATCCCACGCTGGT 0.562000 6 13 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134942326 134942326 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:134942326G>A ENST00000607359.1 + 16 3151 c.3151G>A c.(3151-3153)Gac>Aac p.D1051N GPR123_ENST00000392607.3_Missense_Mutation_p.D332N|GPR123_ENST00000392606.2_Missense_Mutation_p.D235N Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 332 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CCCCGCACTTGACGCCAACGG 0.731000 6 19 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7081197 7081197 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:7081197G>A ENST00000299481.4 + 9 3052 c.2706G>A c.(2704-2706)ctG>ctA p.L902L NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 902 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ACAAGAGCCTGACGCATCTGG 0.448000 43 146 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948850 2948850 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:2948850G>A ENST00000380520.1 - 6 2807 c.813C>T c.(811-813)ctC>ctT p.L271L SERPINB6_ENST00000335686.5_Silent_p.L271L|SERPINB6_ENST00000380529.1_Silent_p.L271L|SERPINB6_ENST00000380539.1_Silent_p.L271L|SERPINB6_ENST00000380524.1_Silent_p.L271L|SERPINB6_ENST00000380546.3_Silent_p.L271L P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 271 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TAAACCGCGGGAGGGACACTT 0.527000 93 302 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43266441 43266441 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:43266441G>A ENST00000372585.5 + 1 440 c.345G>A c.(343-345)caG>caA p.Q115Q SLC22A7_ENST00000372574.3_Silent_p.Q115Q|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.Q115Q NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 115 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CCTGCTCTCAGGGCTGGGAGT 0.572000 21 65 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327708 52327708 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:52327708C>T ENST00000339223.4 + 2 886 c.707C>T c.(706-708)tCc>tTc p.S236F FPR3_ENST00000595991.1_Missense_Mutation_p.S236F NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 236 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 ATGATTAAATCCAGCCGTCCC 0.458000 19 44 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592658 156592658 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:156592658G>A ENST00000302938.4 - 1 617 c.522C>T c.(520-522)ctC>ctT p.L174L NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 174 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGCCTCAGGAGATAGACAA 0.498000 70 241 0 0 1 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22363110 22363110 + RNA SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:22363110G>A ENST00000390438.2 + 0 369 AGGCATCAACGGTTTTGAGGC 0.502000 78 175 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861545 14861545 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:14861545G>A ENST00000285046.5 + 1 1077 c.967G>A c.(967-969)Gag>Aag p.E323K FGD5_ENST00000543601.1_Missense_Mutation_p.E82K NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 323 Glu-rich. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GTCCGCCGAGGAGAGCTGCCA 0.552000 38 91 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38862525 38862525 + Nonsense_Mutation SNP C C T rs149070832 byFrequency TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:38862525C>T ENST00000359357.3 + 57 8235 c.7981C>T c.(7981-7983)Cga>Tga p.R2661* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2625*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2878* dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTTCAATCTTCGAGATCTTTC 0.393000 18 51 0 0 1 0 0 NPM1 4869 broad.mit.edu 37 5 170814963 170814963 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:170814963C>T ENST00000296930.5 + 1 312 c.11C>T c.(10-12)tCg>tTg p.S4L NPM1_ENST00000517671.1_Missense_Mutation_p.S4L|NPM1_ENST00000393820.2_Missense_Mutation_p.S4L|NPM1_ENST00000351986.6_Missense_Mutation_p.S4L NM_002520.6 NP_002511.1 P06748 NPM_HUMAN nucleophosmin (nucleolar phosphoprotein B23, numatrin) 4 Met-rich.|Necessary for interaction with APEX1.|Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding NPM1/ALK(632) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 4269 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATGGAAGATTCGATGGACATG 0.607000 """T, F """ """ALK, RARA, MLF1""" """NHL, APL, AML""" 17 60 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45312224 45312224 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr22:45312224G>A ENST00000313237.5 - 4 650 c.500C>T c.(499-501)aCc>aTc p.T167I PHF21B_ENST00000403565.1_Missense_Mutation_p.T5I|PHF21B_ENST00000396103.3_Missense_Mutation_p.T167I|PHF21B_ENST00000404079.2_Missense_Mutation_p.T155I|PHF21B_ENST00000447824.3_Missense_Mutation_p.T155I NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 167 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) AGACACGGCGGTGCTGGGGGC 0.672000 13 27 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123982691 123982691 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:123982691C>T ENST00000306315.5 - 4 3821 c.3386G>A c.(3385-3387)aGg>aAg p.R1129K ZNF608_ENST00000504926.1_Missense_Mutation_p.R702K NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1129 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CTCACTTTTCCTTTCACAGTC 0.517000 38 106 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79270107 79270107 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:79270107C>T ENST00000554719.1 + 6 1561 c.1070C>T c.(1069-1071)tCt>tTt p.S357F NRXN3_ENST00000335750.5_Missense_Mutation_p.S357F NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 134 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TCCAGGGACTCTGCCGACACC 0.562000 22 76 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74060072 74060072 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:74060072G>A ENST00000307877.2 - 4 707 c.546C>T c.(544-546)acC>acT p.T182T SRP68_ENST00000355113.5_Silent_p.T81T|SRP68_ENST00000539137.1_Silent_p.T144T NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 182 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 CCTCTAATTTGGTCTTGGCAT 0.433000 33 89 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74188090 74188090 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:74188090G>A ENST00000286523.5 - 11 3629 c.2847C>T c.(2845-2847)atC>atT p.I949I ELMSAN1_ENST00000394071.2_Silent_p.I949I NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 ccttctcttggatctctggca 0.617000 18 41 0 0 1 0 0 CCL14 6358 broad.mit.edu 37 17 34313585 34313585 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:34313585G>A ENST00000591669.1 + 2 157 c.31G>A c.(31-33)Gaa>Aaa p.E11K CCL14_ENST00000394509.4_Intron|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000586216.1_Intron|CCL14_ENST00000536149.1_Intron|CCL15-CCL14_ENST00000481427.2_Intron|CCL14_ENST00000435911.2_Intron|CCL14_ENST00000480944.2_5'UTR AGGTTGGAAGGAAGACAAGGC 0.547000 12 31 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40662091 40662091 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:40662091C>T ENST00000267889.3 + 8 3865 c.3778C>T c.(3778-3780)Ctg>Ttg p.L1260L NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1260 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GGCTGAGCCCCTGCCAGCCTC 0.667000 16 42 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86090557 86090557 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:86090557G>A ENST00000377332.3 - 2 242 c.134C>T c.(133-135)cCt>cTt p.P45L ST3GAL5_ENST00000393805.1_Missense_Mutation_p.P17L|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.P22L|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.P45L|ST3GAL5_ENST00000484728.1_5'UTR NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 45 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 TTGCAGGGAAGGCCTCGAGCA 0.498000 26 82 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30721619 30721619 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:30721619G>A ENST00000471646.1 - 2 558 c.141C>T c.(139-141)atC>atT p.I47I CRHR2_ENST00000348438.4_Silent_p.I74I|CRHR2_ENST00000341843.4_Silent_p.I33I|CRHR2_ENST00000506074.2_Silent_p.I47I NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 47 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGCACGTTCCGATCTGGTCCA 0.687000 4 15 0 0 1 0 0 TMEM217 221468 broad.mit.edu 37 6 37186390 37186390 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:37186390G>A ENST00000336655.2 - 2 456 c.417C>T c.(415-417)caC>caT p.H139H TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Silent_p.H139H NM_145316.3 NP_660359.2 Q8N7C4 TM217_HUMAN transmembrane protein 217 139 integral to membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(1) 9 TCCAGAAACAGTGCATGACTG 0.433000 62 195 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6357405 6357405 + Silent SNP T T C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:6357405T>C ENST00000344683.5 + 12 2245 c.2169T>C c.(2167-2169)atT>atC p.I723I ANGPT2_ENST00000325203.5_3'UTR|ANGPT2_ENST00000415216.1_3'UTR NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 723 BRCT 2. microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GTCACTGGATTTCTGAGGAGC 0.418000 36 103 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52271915 52271915 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:52271915G>A ENST00000598776.1 + 2 776 c.4G>A c.(4-6)Gaa>Aaa p.E2K FPR2_ENST00000598953.1_Missense_Mutation_p.E2K|FPR2_ENST00000340023.6_Missense_Mutation_p.E2K NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 2 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TGGCAAGATGGAAACCAACTT 0.468000 19 47 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992406 67992406 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:67992406C>T ENST00000397942.3 + 2 818 c.502C>T c.(502-504)Ctg>Ttg p.L168L SOCS6_ENST00000582322.1_Silent_p.L168L NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 168 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GAGTCCAGCCCTGAATGGCGT 0.587000 34 76 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76502850 76502850 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:76502850G>A ENST00000389840.5 - 30 4867 c.4743C>T c.(4741-4743)tcC>tcT p.S1581S DNAH17_ENST00000585328.1_Silent_p.S1582S dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTCAGCCGAGGAGACAAAAT 0.537000 27 76 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28600569 28600569 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:28600569C>T ENST00000253063.3 + 7 1241 c.920C>T c.(919-921)tCt>tTt p.S307F NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 307 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CTGGAGCCCTCTCCACACCCA 0.577000 44 106 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89692775 89692775 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:89692775C>T ENST00000371953.3 + 5 1616 c.259C>T c.(259-261)Caa>Taa p.Q87* NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 87 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)|p.Q87*(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CACAGTTGCACAATATCCTTT 0.328000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 28 59 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28669511 28669511 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:28669511C>T ENST00000280904.6 - 5 964 c.521G>A c.(520-522)aGa>aAa p.R174K DSC2_ENST00000251081.6_Missense_Mutation_p.R174K NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 174 Cadherin 1. 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) TCCAGGACCTCTTATGGAATA 0.383000 32 50 0 0 1 0 0 DAW1 164781 broad.mit.edu 37 2 228767756 228767756 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:228767756G>A ENST00000373666.2 + 7 1215 c.579G>A c.(577-579)gcG>gcA p.A193A DAW1_ENST00000545118.1_Silent_p.A178A|DAW1_ENST00000309931.2_Silent_p.A193A dynein assembly factor with WDR repeat domains 1 CATTGGTGGCGACTGGAAGTA 0.358000 16 69 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428244 10428244 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:10428244C>T ENST00000245503.5 - 34 5185 c.4801G>A c.(4801-4803)Gag>Aag p.E1601K CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1601K|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1601 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 TGCATGGACTCCACGATTCTA 0.448000 56 188 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76262755 76262755 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:76262755C>T ENST00000263187.3 + 1 189 c.85C>T c.(85-87)Ccc>Tcc p.P29S NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 29 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 ACCTCAGGGTCCCCGCTACAA 0.637000 Mismatch excision repair (MMR) 20 77 0 0 1 0 0 CYYR1 116159 broad.mit.edu 37 21 27945257 27945257 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:27945257C>T ENST00000435845.2 - 1 346 c.327G>A c.(325-327)atG>atA p.M109I CYYR1_ENST00000400043.3_Start_Codon_SNP_p.M1I|CYYR1_ENST00000299340.4_Start_Codon_SNP_p.M1I Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 1 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 TCGGAGCGTCCATCCAAGCCG 0.647000 44 65 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149174025 149174025 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:149174025C>T ENST00000340622.3 - 6 1106 c.826G>A c.(826-828)Gcc>Acc p.A276T ZNF746_ENST00000458143.2_Missense_Mutation_p.A276T Q6NUN9 ZN746_HUMAN zinc finger protein 746 276 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCCGTGGAGGCTGCTGTGTTG 0.607000 68 215 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57738929 57738929 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:57738929G>A ENST00000360716.3 + 7 1062 c.841G>A c.(841-843)Gag>Aag p.E281K CCDC135_ENST00000394337.4_Missense_Mutation_p.E281K|CCDC135_ENST00000336825.8_Missense_Mutation_p.E216K Q8IY82 CC135_HUMAN coiled-coil domain containing 135 281 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GCTGAGGGAGGAGGAGGAGCG 0.587000 16 36 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127210 45127210 + RNA SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:45127210G>A ENST00000575173.1 - 0 418 GAGACAGATGGAAAGACAACA 0.453000 31 124 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253736 65253736 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:65253736G>A ENST00000389722.3 - 15 3000 c.2947C>T c.(2947-2949)Ctg>Ttg p.L983L SPTB_ENST00000542895.1_Silent_p.L983L|SPTB_ENST00000389720.3_Silent_p.L983L|SPTB_ENST00000389721.5_Silent_p.L983L|SPTB_ENST00000556626.1_Silent_p.L983L NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 983 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) TCCCGCCCCAGGTCTTTTGTG 0.602000 25 62 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237399 29237399 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:29237399C>T ENST00000382535.3 + 2 1283 c.914C>T c.(913-915)tCc>tTc p.S305F FOXG1_ENST00000313071.4_Missense_Mutation_p.S305F P55316 FOXG1_HUMAN forkhead box G1 305 RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CGCGCCGGCTCCCTCTACTGG 0.701000 54 138 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96371813 96371813 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:96371813G>A ENST00000261208.3 - 18 1931 c.1563C>T c.(1561-1563)tcC>tcT p.S521S HAL_ENST00000538703.1_Silent_p.S521S|HAL_ENST00000541929.1_Silent_p.S313S NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 521 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TGGTGGAGAGGGAGTCAACAG 0.562000 14 62 0 0 1 0 0 KLF8 11279 broad.mit.edu 37 X 56296747 56296747 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:56296747C>T ENST00000468660.1 + 5 1179 c.891C>T c.(889-891)atC>atT p.I297I KLF8_ENST00000374928.3_Intron NM_007250.4 NP_009181.2 O95600 KLF8_HUMAN Kruppel-like factor 8 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(4)|large_intestine(6)|lung(5)|ovary(1) 16 ACCGCAGAATCCATACAGGTC 0.517000 15 13 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141959 29141959 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:29141959C>T ENST00000377167.2 + 1 649 c.547C>T c.(547-549)Cca>Tca p.P183S NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CTGTGAAGTTCCAGCACTTCT 0.438000 66 186 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76851849 76851849 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:76851849G>A ENST00000262768.7 - 5 861 c.563C>T c.(562-564)gCc>gTc p.A188V TIMP2_ENST00000585421.1_Missense_Mutation_p.A111V|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000536189.2_Missense_Mutation_p.A111V|TIMP2_ENST00000586057.1_Missense_Mutation_p.A111V NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 188 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) GAAGAACTTGGCCTGGTGCCC 0.612000 34 87 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44266136 44266136 + Splice_Site SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:44266136C>T ENST00000315087.7 - 5 1230 c.e5+1 ST8SIA5_ENST00000590497.1_Splice_Site|ST8SIA5_ENST00000538168.1_Splice_Site|ST8SIA5_ENST00000536490.1_Splice_Site NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GTTTCTTTTACCGGAAGACGA 0.557000 22 79 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32261073 32261073 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:32261073C>T ENST00000375015.4 - 26 1574 c.1374G>A c.(1372-1374)aaG>aaA p.K458K C6orf10_ENST00000533191.1_Silent_p.K457K|C6orf10_ENST00000527965.1_Silent_p.K443K|C6orf10_ENST00000447241.2_Silent_p.K459K|C6orf10_ENST00000442822.2_Silent_p.K450K|C6orf10_ENST00000375007.4_Silent_p.K457K Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 459 integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CCTCAGTGTTCTTTACTTGGG 0.458000 105 270 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42114232 42114232 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr22:42114232C>T ENST00000401548.3 + 6 727 c.687C>T c.(685-687)tcC>tcT p.S229S MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 229 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TCTTCCTTTCCATCCTGGATG 0.463000 9 34 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13753186 13753186 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:13753186G>A ENST00000202816.1 - 5 1332 c.1225C>T c.(1225-1227)Cct>Tct p.P409S NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 GCATCTTCAGGAATACTTAAT 0.338000 41 116 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345554 92345554 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:92345554G>A ENST00000377067.3 + 3 811 c.439G>A c.(439-441)Gat>Aat p.D147N NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 147 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GTTCTTCACTGATGTGGGGCT 0.408000 43 133 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948603 2948603 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:2948603G>A ENST00000380520.1 - 6 3054 c.1060C>T c.(1060-1062)Ccc>Tcc p.P354S SERPINB6_ENST00000335686.5_Missense_Mutation_p.P354S|SERPINB6_ENST00000380529.1_Missense_Mutation_p.P354S|SERPINB6_ENST00000380539.1_Missense_Mutation_p.P354S|SERPINB6_ENST00000380524.1_Missense_Mutation_p.P354S|SERPINB6_ENST00000380546.3_Missense_Mutation_p.P354S P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 354 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) AAAAGGAAGGGGTGGTCGGCG 0.602000 22 86 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133748267 133748267 + Missense_Mutation SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:133748267C>A ENST00000318560.5 + 6 1309 c.928C>A c.(928-930)Ccg>Acg p.P310T NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 310 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCGGGAGCCCCCGTTCTATAT 0.547000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 27 105 1.2476e-16 1.26904e-16 1 1 0 GHR 2690 broad.mit.edu 37 5 42695153 42695153 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:42695153G>A ENST00000230882.4 + 5 591 c.401G>A c.(400-402)gGt>gAt p.G134D GHR_ENST00000357703.3_Missense_Mutation_p.G112D|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 134 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGCAATGGTGGTACAGTGGAT 0.373000 25 54 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6691438 6691438 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:6691438G>A ENST00000309577.6 - 29 4627 c.4464C>T c.(4462-4464)gtC>gtT p.V1488V CHD4_ENST00000544484.1_Silent_p.V1485V|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Silent_p.V1453V|CHD4_ENST00000357008.2_Silent_p.V1460V|CHD4_ENST00000540960.1_5'UTR Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1460 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGAAAAGAGAGACATATGCCC 0.488000 25 63 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135095784 135095784 + Silent SNP G G A rs112980465 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:135095784G>A ENST00000368563.2 - 16 2708 c.2352C>T c.(2350-2352)acC>acT p.T784T TUBGCP2_ENST00000543663.1_Silent_p.T812T|TUBGCP2_ENST00000252936.3_Silent_p.T784T|TUBGCP2_ENST00000417178.2_Silent_p.T654T|TUBGCP2_ENST00000368562.1_Silent_p.T377T NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 784 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GCCCCAGGACGGTGCTGTGCT 0.627000 14 22 0 0 1 0 0 HTR6 3362 broad.mit.edu 37 1 19992253 19992253 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:19992253C>T ENST00000289753.1 + 1 474 c.7C>T c.(7-9)Cca>Tca p.P3S NM_000871.1 NP_000862.1 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled 3 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CCTCATGGTCCCAGAGCCGGG 0.746000 13 36 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354860 45354860 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:45354860C>T ENST00000359271.2 + 2 1435 c.1185C>T c.(1183-1185)ctC>ctT p.L395L NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 395 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GCTCTGCCCTCCCTGGGCCCC 0.632000 23 58 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55782894 55782894 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr10:55782894G>A ENST00000373965.2 - 20 2699 c.2305C>T c.(2305-2307)Ctt>Ttt p.L769F PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L740F|PCDH15_ENST00000395432.2_Missense_Mutation_p.L725F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.L769F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L373F|PCDH15_ENST00000395438.1_Missense_Mutation_p.L762F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L691F|PCDH15_ENST00000395430.1_Missense_Mutation_p.L762F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.L762F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L762F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L767F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L762F NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 762 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATACGAAAAAGATTATTAAAG 0.373000 HNSCC(58;0.16) 24 55 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211320 78211320 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:78211320C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGCTTTTGCAGCCTCTCAC 0.587000 5 408 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64011118 64011118 + Missense_Mutation SNP G G C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:64011118G>C ENST00000324472.4 - 11 1367 c.1184C>G c.(1183-1185)tCt>tGt p.S395C NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 395 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ATAATAAGAAGATAAGTACAT 0.274000 5 35 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74188089 74188089 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:74188089G>A ENST00000286523.5 - 11 3630 c.2848C>T c.(2848-2850)Caa>Taa p.Q950* ELMSAN1_ENST00000394071.2_Nonsense_Mutation_p.Q950* NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 tccttctcttggatctctggc 0.622000 17 40 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79743954 79743954 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:79743954C>T ENST00000338008.5 + 7 3014 c.2834C>T c.(2833-2835)cCa>cTa p.P945L ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P945L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P945L NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 945 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TCTCAGGTTCCATCAGTGGAA 0.378000 31 83 0 0 1 0 0 L2HGDH 79944 broad.mit.edu 37 14 50713960 50713960 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:50713960C>T ENST00000267436.4 - 10 1605 c.1208G>A c.(1207-1209)gGa>gAa p.G403E L2HGDH_ENST00000421284.3_Missense_Mutation_p.G403E|L2HGDH_ENST00000261699.4_Intron Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase 403 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) GGCTCTTACTCCAGCTGGGCC 0.428000 15 34 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95653585 95653585 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:95653585G>A ENST00000433389.2 + 1 229 c.39G>A c.(37-39)ggG>ggA p.G13G ESRP1_ENST00000358397.5_Silent_p.G13G|ESRP1_ENST00000423620.2_Silent_p.G13G|ESRP1_ENST00000454170.2_Silent_p.G13G NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 13 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TGCTTTTTGGGATCACTGCTG 0.582000 17 48 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179732800 179732800 + Missense_Mutation SNP G G T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179732800G>T ENST00000420890.2 - 16 2644 c.2527C>A c.(2527-2529)Ctg>Atg p.L843M CCDC141_ENST00000295723.5_Missense_Mutation_p.L268M NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 268 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GAAAGGGCCAGTCTGTGGAGA 0.517000 24 78 1.64293e-13 1.66544e-13 1 1 0 PARP8 79668 broad.mit.edu 37 5 50111326 50111326 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:50111326G>A ENST00000281631.5 + 15 1794 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K PARP8_ENST00000505697.2_Missense_Mutation_p.E546K|PARP8_ENST00000514067.2_Missense_Mutation_p.E546K|PARP8_ENST00000503750.2_Missense_Mutation_p.E546K|PARP8_ENST00000505554.1_Missense_Mutation_p.E525K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.E299K NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 546 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AGTAATGAATGAAGCTGCTGA 0.373000 25 55 0 0 1 0 0 ZNF564 163050 broad.mit.edu 37 19 12638052 12638052 + Missense_Mutation SNP G G T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:12638052G>T ENST00000339282.7 - 4 1066 c.870C>A c.(868-870)ttC>ttA p.F290L CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TGAAAGAAATGAAGGCCTTCC 0.393000 23 79 3.5997e-14 3.65527e-14 1 1 0 ABL1 25 broad.mit.edu 37 9 133748268 133748268 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:133748268C>T ENST00000318560.5 + 6 1310 c.929C>T c.(928-930)cCg>cTg p.P310L NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 310 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGGGAGCCCCCGTTCTATATC 0.552000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 28 104 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924170 24924170 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:24924170C>T ENST00000329468.2 + 1 3630 c.3156C>T c.(3154-3156)ttC>ttT p.F1052F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTTCTGTTTTCCCATTTGGTC 0.552000 31 73 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55524480 55524480 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:55524480C>T ENST00000305377.5 + 1 1016 c.928C>T c.(928-930)Cct>Tct p.P310S NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 CATGTTGAATCCTTTGATTTA 0.358000 71 152 0 0 1 0 0 HSD17B12 51144 broad.mit.edu 37 11 43837931 43837931 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:43837931C>T ENST00000278353.4 + 6 610 c.491C>T c.(490-492)tCt>tTt p.S164F HSD17B12_ENST00000529261.1_3'UTR NM_016142.2 NP_057226.1 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 164 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity endometrium(2)|large_intestine(4)|lung(4) 10 AATATTCTTTCTGTTTGTAAG 0.299000 16 63 0 0 1 0 0 SPIRE1 56907 broad.mit.edu 37 18 12506555 12506555 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:12506555G>A ENST00000409402.4 - 6 1160 c.893C>T c.(892-894)cCc>cTc p.P298L SPIRE1_ENST00000383356.2_Missense_Mutation_p.P139L|SPIRE1_ENST00000410092.3_Missense_Mutation_p.P298L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.P101L|SPIRE1_ENST00000453447.2_Missense_Mutation_p.P178L NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 298 cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 ATATTCAATGGGCAAAGGGTT 0.458000 62 175 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47954716 47954716 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:47954716C>T ENST00000402813.3 - 3 352 c.210G>A c.(208-210)atG>atA p.M70I CNGA1_ENST00000544810.1_Start_Codon_SNP_p.M1I|CNGA1_ENST00000514170.1_Start_Codon_SNP_p.M1I|CNGA1_ENST00000420489.2_Start_Codon_SNP_p.M1I|CNGA1_ENST00000358519.4_Start_Codon_SNP_p.M1I P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 1 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 TGGATAGTTTCATATCTGAGG 0.328000 12 45 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197313503 197313503 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:197313503G>A ENST00000367400.3 + 3 880 c.745G>A c.(745-747)Gac>Aac p.D249N CRB1_ENST00000535699.1_Missense_Mutation_p.D180N|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.D249N NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 249 EGF-like 6; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTATTTCTGCGACTGTGCCCC 0.483000 86 278 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10441093 10441093 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:10441093G>A ENST00000245503.5 - 15 1860 c.1476C>T c.(1474-1476)ttC>ttT p.F492F CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.F492F|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.F492F NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 492 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 TGTGGTGGTTGAAAAACTGTT 0.468000 74 170 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116757492 116757492 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:116757492G>A ENST00000331677.3 + 7 2305 c.1861G>A c.(1861-1863)Gat>Aat p.D621N DSE_ENST00000452085.3_Missense_Mutation_p.D621N|DSE_ENST00000359564.2_Missense_Mutation_p.D621N|DSE_ENST00000537543.1_Missense_Mutation_p.D640N Q9UL01 DSE_HUMAN dermatan sulfate epimerase 621 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) CTGGATGGACGATACTGGCTA 0.483000 40 60 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11594517 11594517 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:11594517G>A ENST00000293771.5 - 9 1964 c.1828C>T c.(1828-1830)Ccg>Tcg p.P610S CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 610 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 TTGTGATCCGGGTGGCTTTTG 0.627000 15 57 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95603072 95603072 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:95603072G>A ENST00000343958.4 - 2 2211 c.1988C>T c.(1987-1989)tCc>tTc p.S663F FGD6_ENST00000549499.1_Missense_Mutation_p.S663F|FGD6_ENST00000546711.1_Missense_Mutation_p.S663F NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 663 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 CTCCCCACTGGAGAGGTGGCC 0.463000 49 150 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36995416 36995416 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:36995416C>T ENST00000217407.2 + 9 1086 c.925C>T c.(925-927)Ccg>Tcg p.P309S NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 309 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GCTGCAGATACCGCCTGACTC 0.547000 23 115 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70526082 70526082 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr18:70526082C>T ENST00000327305.6 - 4 1105 c.448G>A c.(448-450)Gct>Act p.A150T NETO1_ENST00000299430.2_Missense_Mutation_p.A149T|NETO1_ENST00000583169.1_Missense_Mutation_p.A150T|NETO1_ENST00000397929.1_Missense_Mutation_p.A149T|NETO1_ENST00000580049.1_5'UTR NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 150 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TTGTATCGAGCTGAAAATCCC 0.323000 29 70 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44248500 44248500 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:44248500G>A ENST00000262419.6 - 2 1480 c.1010C>T c.(1009-1011)tCc>tTc p.S337F KANSL1_ENST00000572904.1_Missense_Mutation_p.S337F|KANSL1_ENST00000575318.1_Missense_Mutation_p.S337F|KANSL1_ENST00000574590.1_Missense_Mutation_p.S337F|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.S337F NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 337 MLL1 complex protein binding p.S337Y(1)|p.S337C(1) TGGTCTCAAGGATTCCAAGTT 0.493000 37 107 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205538409 205538409 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:205538409G>A ENST00000367147.4 + 1 305 c.212G>A c.(211-213)gGg>gAg p.G71E MFSD4_ENST00000536357.1_Missense_Mutation_p.G71E|MFSD4_ENST00000539267.1_Missense_Mutation_p.G71E NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 71 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) AGCGCCCTCGGGGGCGTCTTC 0.741000 3 14 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338449 122338449 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:122338449G>A ENST00000340112.2 - 1 761 c.524C>T c.(523-525)gCc>gTc p.A175V CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 175 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 CTCAACCACGGCTGTAATGAG 0.378000 48 140 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 63974589 63974589 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:63974589G>A ENST00000324472.4 - 19 1936 c.1753C>T c.(1753-1755)Cgt>Tgt p.R585C DPY19L2_ENST00000413230.2_Missense_Mutation_p.R32C NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 585 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TTCTCAAAACGAACTCTGCGA 0.358000 23 84 0 0 1 0 0 TMEM56 148534 broad.mit.edu 37 1 95616888 95616888 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:95616888C>T ENST00000370203.4 + 5 603 c.312C>T c.(310-312)tcC>tcT p.S104S RP11-57H12.6_ENST00000604534.1_Silent_p.S104S NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 104 TLC. integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) CAGATTTGTCCATTATAATTT 0.348000 26 80 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596670 142596670 + Missense_Mutation SNP A A T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:142596670A>T ENST00000370503.2 - 2 483 c.400T>A c.(400-402)Tct>Act p.S134T GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 134 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TCCTGTGAAGATCCTTCAGAT 0.443000 41 51 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98850543 98850543 + RNA SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:98850543C>A ENST00000554295.1 - 0 380 NR_033801.1 GGGTACCATACCTCAGGATCA 0.527000 5 20 3.59834e-05 3.61666e-05 1 1 0 RIMS2 9699 broad.mit.edu 37 8 104948833 104948833 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:104948833G>A ENST00000507740.1 + 10 2042 c.1806G>A c.(1804-1806)tgG>tgA p.W602* RIMS2_ENST00000436393.2_Nonsense_Mutation_p.W588*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.W810*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.W649* NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 872 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AACCCAAATGGAACCAAACAT 0.353000 HNSCC(12;0.0054) 93 90 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158256856 158256856 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:158256856G>A ENST00000296526.7 + 10 1625 c.1300G>A c.(1300-1302)Gaa>Aaa p.E434K GRIA2_ENST00000449365.1_Missense_Mutation_p.E387K|GRIA2_ENST00000393815.2_Missense_Mutation_p.E387K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E387K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E434K NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 434 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GAAAAATCATGAAATGCTTGA 0.373000 20 61 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 245 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165175136 165175136 + Missense_Mutation SNP G G T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:165175136G>T ENST00000342310.3 - 8 1335 c.953C>A c.(952-954)cCa>cAa p.P318Q LMX1A_ENST00000367893.4_Missense_Mutation_p.P318Q|LMX1A_ENST00000294816.2_Missense_Mutation_p.P318Q|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 318 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CATCTGGGGTGGGGTGAGACC 0.572000 80 101 2.70532e-21 2.77085e-21 1 1 0 GRIA1 2890 broad.mit.edu 37 5 153077667 153077667 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:153077667G>A ENST00000285900.5 + 9 1541 c.1198G>A c.(1198-1200)Gat>Aat p.D400N GRIA1_ENST00000340592.5_Missense_Mutation_p.D400N|GRIA1_ENST00000518783.1_Missense_Mutation_p.D410N|GRIA1_ENST00000521843.2_Missense_Mutation_p.D331N|GRIA1_ENST00000518142.1_Missense_Mutation_p.D320N|GRIA1_ENST00000448073.4_Missense_Mutation_p.D410N NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 400 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGCTGGGGGCGATAATTCAAG 0.478000 22 63 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50247522 50247522 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:50247522G>A ENST00000246801.3 - 8 1409 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W TSKS_ENST00000358830.3_Missense_Mutation_p.R243W NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 443 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TGGTGGGACCGATCCAGGTTC 0.592000 24 60 0 0 1 0 0 PTGR2 145482 broad.mit.edu 37 14 74340788 74340788 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:74340788C>T ENST00000555661.1 + 4 364 c.219C>T c.(217-219)gtC>gtT p.V73V RP5-1021I20.4_ENST00000553813.1_5'UTR|PTGR2_ENST00000267568.4_Silent_p.V73V|PTGR2_ENST00000554885.1_Silent_p.V49V|PTGR2_ENST00000555228.1_Silent_p.V73V Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 73 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 TATCTCAAGTCGTTGATGGAG 0.363000 35 92 0 0 1 0 0 VWC2L 402117 broad.mit.edu 37 2 215279277 215279277 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:215279277G>A ENST00000312504.5 + 2 1162 c.360G>A c.(358-360)ggG>ggA p.G120G AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Silent_p.G120G NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 120 VWFC 2. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 AATATCACGGGAAAAATTACA 0.358000 11 47 0 0 1 0 0 SLC37A4 2542 broad.mit.edu 37 11 118899985 118899985 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:118899985G>A ENST00000545985.1 - 3 851 c.95C>T c.(94-96)tCc>tTc p.S32F SLC37A4_ENST00000330775.7_Missense_Mutation_p.S32F|SLC37A4_ENST00000538950.1_Intron|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S32F NM_001164277.1|NM_001467.5 NP_001157749.1|NP_001458.1 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 4 32 glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 6 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) CATGACAAAGGAGAAGGTCTT 0.517000 6 32 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51897853 51897853 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:51897853C>T ENST00000453097.2 + 23 3339 c.3122C>T c.(3121-3123)cCc>cTc p.P1041L NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 1041 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GACAAGTTTCCCTTAGAGAGC 0.393000 5 12 0 0 1 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14380 14380 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrM:14380C>T ENST00000361681.2 - 1 293 c.294G>A c.(292-294)atG>atA p.M98I mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 AATCCTACCTCCATCGCTAAC 0.473000 45 49 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53420566 53420566 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr13:53420566C>T ENST00000377942.3 - 1 2209 c.2006G>A c.(2005-2007)gGg>gAg p.G669E PCDH8_ENST00000338862.4_Missense_Mutation_p.G669E NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 669 Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CAGTATCTCCCCCGTGCGGCG 0.716000 7 32 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234774970 234774970 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:234774970C>T ENST00000438684.1 - 0 1144 NR_024322.1 GACAAACAATCGCAGCAAATG 0.433000 30 83 0 0 1 0 0 TTPAL 79183 broad.mit.edu 37 20 43108900 43108900 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:43108900C>T ENST00000372904.3 + 3 404 c.261C>T c.(259-261)gcC>gcT p.A87A TTPAL_ENST00000262605.4_Silent_p.A87A|TTPAL_ENST00000372906.2_Silent_p.A87A NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 87 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 TCCTCCGAGCCCGCAAGTTTG 0.572000 18 52 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247706 56247706 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:56247706G>A ENST00000545221.1 + 1 690 c.690G>A c.(688-690)ggG>ggA p.G230G NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CACATCCAGGGGAGGCAAGAA 0.532000 38 89 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459899 66459899 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:66459899C>T ENST00000424345.1 + 0 159 agtgtctggacattaaaatct 0.378000 4 16 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793848 65793848 + Translation_Start_Site SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:65793848C>T ENST00000312106.5 - 1 140 c.3G>A c.(1-3)atG>atA p.M1I NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 1 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AGTTTTGATCCATGACTGTGC 0.537000 34 113 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241031931 241031931 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:241031931G>A ENST00000366565.1 - 9 946 c.565C>T c.(565-567)Ctt>Ttt p.L189F RGS7_ENST00000401882.1_Missense_Mutation_p.L136F|RGS7_ENST00000331110.7_Missense_Mutation_p.L163F|RGS7_ENST00000348120.2_Missense_Mutation_p.L136F|RGS7_ENST00000407727.1_Missense_Mutation_p.L189F|RGS7_ENST00000366563.1_Missense_Mutation_p.L189F|RGS7_ENST00000366562.4_Missense_Mutation_p.L189F|RGS7_ENST00000446183.2_Missense_Mutation_p.L105F|RGS7_ENST00000366564.1_Missense_Mutation_p.L189F NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 189 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TGGCTGTCAAGGATCTTCCTT 0.458000 65 106 0 0 1 0 0 DCTN4 51164 broad.mit.edu 37 5 150133177 150133177 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:150133177G>A ENST00000447998.2 - 3 364 c.249C>T c.(247-249)ctC>ctT p.L83L DCTN4_ENST00000424236.1_Silent_p.L26L|DCTN4_ENST00000446090.2_Silent_p.L83L|DCTN4_ENST00000521093.1_5'UTR NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 83 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCGAGTAGAGAGGGTGTGCA 0.468000 11 31 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64174578 64174578 + Missense_Mutation SNP A A C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:64174578A>C ENST00000272322.4 - 9 1338 c.1184T>G c.(1183-1185)cTt>cGt p.L395R VPS54_ENST00000409558.3_Missense_Mutation_p.L383R|VPS54_ENST00000354504.3_Intron NM_016516.2 NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 395 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TAAAAAATTAAGCTTTCTTTG 0.234000 12 35 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57549949 57549949 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:57549949C>T ENST00000243077.3 + 9 1766 c.1300C>T c.(1300-1302)Cag>Tag p.Q434* NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 434 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGCCAATGCCCAGCAGAAGAC 0.547000 34 133 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 7 88 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179549403 179549403 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:179549403G>A ENST00000589042.1 - 131 32852 c.32628C>T c.(32626-32628)ctC>ctT p.L10876L TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L9632L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.L10559L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10559 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) CTTTGGCTGGGAGAGGTTCTT 0.413000 17 55 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145847964 145847964 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:145847964C>T ENST00000296702.5 + 6 1234 c.1196C>T c.(1195-1197)aCc>aTc p.T399I TCERG1_ENST00000394421.2_Intron NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 399 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCACCAAGACCGGTAATTTT 0.388000 21 57 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110763663 110763663 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:110763663G>A ENST00000451085.1 + 4 1881 c.835G>A c.(835-837)Gat>Aat p.D279N IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D279N|LRRN3_ENST00000308478.5_Missense_Mutation_p.D279N|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 279 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACGAAGGGGTGATTTTAGCAA 0.338000 35 94 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348842 30348842 + Missense_Mutation SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:30348842A>G ENST00000327564.7 + 1 819 c.758A>G c.(757-759)tAt>tGt p.Y253C LRRC37B_ENST00000394713.3_Missense_Mutation_p.Y226C|LRRC37B_ENST00000543378.2_Missense_Mutation_p.Y144C|LRRC37B_ENST00000341671.7_Missense_Mutation_p.Y226C|LRRC37B_ENST00000584368.1_Missense_Mutation_p.Y238C Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 226 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CCAGATGATTATTTGAGTATG 0.493000 64 171 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431406 135431406 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chrX:135431406C>T ENST00000394143.1 + 6 5832 c.5541C>T c.(5539-5541)atC>atT p.I1847I GPR112_ENST00000412101.1_Silent_p.I1642I|GPR112_ENST00000370652.1_Silent_p.I1847I|GPR112_ENST00000287534.4_Silent_p.I1784I|GPR112_ENST00000394141.1_Silent_p.I1642I NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1847 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAGCTGAGATCTCTACTCCAA 0.443000 31 51 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49574007 49574007 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:49574007G>A ENST00000221444.1 - 2 1039 c.684C>T c.(682-684)ctC>ctT p.L228L NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 228 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) GACAGACCAGGAGGCGTACCA 0.527000 35 68 0 0 1 0 0 MAP3K2 10746 broad.mit.edu 37 2 128084364 128084364 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:128084364G>A ENST00000409947.1 - 8 778 c.496C>T c.(496-498)Ccc>Tcc p.P166S MAP3K2_ENST00000344908.5_Missense_Mutation_p.P166S Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 166 activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TAACCTGGGGGAGGAGAACTT 0.393000 18 37 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4944897 4944897 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:4944897G>A ENST00000321961.2 - 1 740 c.673C>T c.(673-675)Cgc>Tgc p.R225C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCACGGTGCGAAGGATGAGG 0.537000 24 82 0 0 1 0 0 NLGN2 57555 broad.mit.edu 37 17 7318902 7318902 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:7318902G>A ENST00000302926.2 + 6 1183 c.1110G>A c.(1108-1110)caG>caA p.Q370Q NLGN2_ENST00000575301.1_Silent_p.Q370Q NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 370 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) TCATGCAGCAGGGAGAATTCC 0.607000 37 136 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100173 110100173 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:110100173G>A ENST00000518632.1 + 2 783 c.432G>A c.(430-432)aaG>aaA p.K144K TRHR_ENST00000311762.2_Silent_p.K144K P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 144 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GAGCCAAAAAGATTATCATCT 0.403000 24 151 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 6 167 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894487 123894487 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr11:123894487C>T ENST00000375024.1 + 1 768 c.768C>T c.(766-768)ttC>ttT p.F256F NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCTGTGTTTTCATTTACCTGA 0.542000 50 150 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064001 9064001 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:9064001G>A ENST00000397910.4 - 3 23648 c.23445C>T c.(23443-23445)ttC>ttT p.F7815F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7817 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGTCTCAAGGAAGGCAGGAG 0.527000 56 148 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517560 20517560 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:20517560C>T ENST00000375099.3 + 2 590 c.506C>T c.(505-507)gCc>gTc p.A169V NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 169 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CGAGCTTGTGCCGTGGAGAGG 0.532000 4 119 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682927 218682927 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:218682927C>T ENST00000171887.4 - 24 4268 c.3816G>A c.(3814-3816)ctG>ctA p.L1272L TNS1_ENST00000430930.1_Silent_p.L1251L|TNS1_ENST00000419504.1_Silent_p.L1259L NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1272 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGCCGGCCCAGGCTGGGAC 0.682000 16 36 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38997158 38997158 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:38997158G>A ENST00000355481.4 + 56 8795 c.8664G>A c.(8662-8664)cgG>cgA p.R2888R RYR1_ENST00000360985.3_Silent_p.R2888R|RYR1_ENST00000359596.3_Silent_p.R2888R NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2888 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGTGGGGACGGAagaagaagc 0.587000 21 67 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51535267 51535267 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:51535267C>T ENST00000525263.1 - 3 441 c.322G>A c.(322-324)Gac>Aac p.D108N KLK12_ENST00000250351.4_Missense_Mutation_p.D108N|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Missense_Mutation_p.D108N Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 108 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) AGCCGGAGGTCGTGCTCGTGG 0.677000 13 47 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160851925 160851925 + Missense_Mutation SNP C C T rs151006223 byFrequency TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:160851925C>T ENST00000326245.3 - 4 342 c.227G>A c.(226-228)gGt>gAt p.G76D NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 76 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCAGCCGCCACCCCCAGAGGT 0.592000 21 106 0 0 1 0 0 BATF3 55509 broad.mit.edu 37 1 212860169 212860169 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:212860169G>A ENST00000243440.1 - 3 570 c.348C>T c.(346-348)ccC>ccT p.P116P BATF3_ENST00000478275.1_5'UTR NM_018664.2 NP_061134.1 Q9NR55 BATF3_HUMAN basic leucine zipper transcription factor, ATF-like 3 116 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781) GGTCCGGCCGGGGAGGCACTG 0.612000 30 113 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141722186 141722186 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:141722186G>A ENST00000475668.2 + 7 883 c.829G>A c.(829-831)Gat>Aat p.D277N MGAM_ENST00000549489.2_Missense_Mutation_p.D277N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 277 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTATCGGCATGATATGAATTG 0.488000 82 76 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89938513 89938513 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:89938513G>A ENST00000405460.2 + 12 2397 c.2301G>A c.(2299-2301)ttG>ttA p.L767L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 767 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) TAATTATTTTGGAAAATGATG 0.408000 53 127 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110460428 110460428 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:110460428G>A ENST00000378402.5 + 39 5937 c.5833G>A c.(5833-5835)Gaa>Aaa p.E1945K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1945 IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGAGATCTTGGAAATCTCCGT 0.388000 HNSCC(38;0.096) 11 43 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43384943 43384943 + Silent SNP A A T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:43384943A>T ENST00000372851.3 - 6 708 c.642T>A c.(640-642)ggT>ggA p.G214G RIMS4_ENST00000541604.2_Silent_p.G215G NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 214 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CGCGAGCCACACCCATGAACT 0.627000 8 42 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404752 20404752 + Nonsense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:20404752G>A ENST00000285600.4 + 1 986 c.927G>A c.(925-927)tgG>tgA p.W309* NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TGAACTCCTGGAAAAACTAGG 0.438000 17 82 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82586136 82586136 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:82586136G>A ENST00000423517.2 - 5 4470 c.4133C>T c.(4132-4134)cCa>cTa p.P1378L PCLO_ENST00000333891.8_Missense_Mutation_p.P1378L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1309 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 AATAAGACTTGGAATTTCACC 0.448000 20 46 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110437354 110437354 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:110437354G>A ENST00000378402.5 + 24 2842 c.2738G>A c.(2737-2739)gGa>gAa p.G913E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 913 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTCTACAGAGGAAATAATTGG 0.338000 HNSCC(38;0.096) 32 26 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197024898 197024898 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:197024898G>A ENST00000367412.1 - 8 1344 c.1301C>T c.(1300-1302)tCa>tTa p.S434L NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 434 Sushi 7. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AGATATTTTTGATCCCCTCAG 0.413000 55 101 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133191246 133191246 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:133191246C>T ENST00000302334.2 + 6 1170 c.1081C>T c.(1081-1083)Cag>Tag p.Q361* BFSP2_ENST00000511434.1_3'UTR NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 361 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CATGGAGCTCCAGAACCTGGG 0.642000 18 46 0 0 1 0 0 WDR38 401551 broad.mit.edu 37 9 127618829 127618829 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:127618829G>A ENST00000373574.1 + 6 624 c.568G>A c.(568-570)Gga>Aga p.G190R NM_001045476.1|NM_001276374.1 NP_001038941.1|NP_001263303.1 Q5JTN6 WDR38_HUMAN WD repeat domain 38 190 breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 GGCGCTAGAGGGACACAGTGC 0.637000 11 35 0 0 1 0 0 SPACA4 171169 broad.mit.edu 37 19 49110327 49110327 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:49110327C>T ENST00000321762.1 + 1 328 c.92C>T c.(91-93)tCc>tTc p.S31F FAM83E_ENST00000263266.3_Intron NM_133498.2 NP_598005.1 Q8TDM5 SACA4_HUMAN sperm acrosome associated 4 31 UPAR/Ly6 1. cell adhesion acrosomal vesicle|anchored to membrane|plasma membrane central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) CTCACCGACTCCATGCAGTGT 0.637000 47 142 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42042667 42042667 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:42042667G>A ENST00000220809.4 - 7 819 c.563C>T c.(562-564)cCc>cTc p.P188L PLAT_ENST00000270189.6_Missense_Mutation_p.P188L|PLAT_ENST00000352041.3_Missense_Mutation_p.P142L|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.P188L|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000519510.1_Missense_Mutation_p.P125L NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 188 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GTAGCACCAGGGCTTTGAGTC 0.547000 15 63 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27861295 27861295 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr17:27861295C>T ENST00000261716.3 + 19 3040 c.2521C>T c.(2521-2523)Cgg>Tgg p.R841W TAOK1_ENST00000536202.1_Missense_Mutation_p.R693W NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 841 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GGTCTCCCTCCGGAGGGCACT 0.408000 20 41 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459899 66459899 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr9:66459899C>T ENST00000424345.1 + 0 159 agtgtctggacattaaaatct 0.378000 4 16 0 0 1 0 0 F2RL3 9002 broad.mit.edu 37 19 17001362 17001362 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr19:17001362C>T ENST00000248076.3 + 2 1418 c.1088C>T c.(1087-1089)aCc>aTc p.T363I NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 363 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCGGGGGACACCGTGGCCTCC 0.637000 6 18 0 0 1 0 0 HOXA6 3203 broad.mit.edu 37 7 27187306 27187306 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr7:27187306G>A ENST00000222728.3 - 1 87 c.63C>T c.(61-63)ttC>ttT p.F21F HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_Intron NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 21 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 GCTGGCCCAAGAAGGAGTCCT 0.607000 19 65 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211320 78211320 + RNA SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr15:78211320C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGCTTTTGCAGCCTCTCAC 0.587000 5 408 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132999853 132999853 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr8:132999853G>A ENST00000254624.5 + 18 2194 c.1969G>A c.(1969-1971)Gat>Aat p.D657N EFR3A_ENST00000334503.4_Missense_Mutation_p.D657N|EFR3A_ENST00000519656.1_Missense_Mutation_p.D621N NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 657 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GCATGAAAAAGATTTGTACTT 0.358000 15 17 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517560 20517560 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:20517560C>T ENST00000375099.3 + 2 590 c.506C>T c.(505-507)gCc>gTc p.A169V NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 169 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CGAGCTTGTGCCGTGGAGAGG 0.532000 4 119 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 41 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740711 37740711 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr9:37740711G>A ENST00000539465.1 + 15 2779 c.2186G>A c.(2185-2187)cGg>cAg p.R729Q FRMPD1_ENST00000536622.1_Missense_Mutation_p.R551Q|FRMPD1_ENST00000541302.1_Missense_Mutation_p.R598Q|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R729Q Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 729 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) ACAGCTTCCCGGCAAGGGGGA 0.647000 16 53 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119749443 119749443 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:119749443G>A ENST00000541757.1 + 15 1345 c.965G>A c.(964-966)gGa>gAa p.G322E MARCO_ENST00000327097.4_Missense_Mutation_p.G400E Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 400 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.G400V(2) 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 GGAGACCAGGGAGTGAAAGGT 0.547000 5 14 0 0 1 0 0 ALDH3B1 221 broad.mit.edu 37 11 67786692 67786692 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr11:67786692C>T ENST00000539229.1 + 6 561 c.445C>T c.(445-447)Ctg>Ttg p.L149L ALDH3B1_ENST00000342456.6_Silent_p.L113L|ALDH3B1_ENST00000316367.6_Silent_p.L149L|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Silent_p.L149L NM_001161473.1 NP_001154945.1 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 150 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) CGAGAAGATCCTGGCCGAGGT 0.637000 3 32 0 0 1 0 0 SPATA17 128153 broad.mit.edu 37 1 217947744 217947744 + Silent SNP A A G TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:217947744A>G ENST00000366933.4 + 7 643 c.588A>G c.(586-588)gcA>gcG p.A196A NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 196 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TACAGAAGGCAAAGCCTTTAA 0.433000 34 141 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 32 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682926 218682926 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:218682926C>T ENST00000171887.4 - 24 4269 c.3817G>A c.(3817-3819)Ggc>Agc p.G1273S TNS1_ENST00000430930.1_Missense_Mutation_p.G1252S|TNS1_ENST00000419504.1_Missense_Mutation_p.G1260S NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1273 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGGTGCCGGCCCAGGCTGGGA 0.682000 16 35 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66466210 66466210 + RNA SNP C C T rs147345298 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr9:66466210C>T ENST00000424345.1 + 0 843 acctgagtgactctctcctag 0.438000 3 21 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358289 124358289 + Splice_Site SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr10:124358289G>A ENST00000338354.3 + 26 3062 c.e26-1 DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTCCCCTGTAGGATCTGAATC 0.527000 7 443 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682927 218682927 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:218682927C>T ENST00000171887.4 - 24 4268 c.3816G>A c.(3814-3816)ctG>ctA p.L1272L TNS1_ENST00000430930.1_Silent_p.L1251L|TNS1_ENST00000419504.1_Silent_p.L1259L NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1272 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGCCGGCCCAGGCTGGGAC 0.682000 16 36 0 0 1 0 0 HSD17B12 51144 broad.mit.edu 37 11 43837931 43837931 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr11:43837931C>T ENST00000278353.4 + 6 610 c.491C>T c.(490-492)tCt>tTt p.S164F HSD17B12_ENST00000529261.1_3'UTR NM_016142.2 NP_057226.1 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 164 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity endometrium(2)|large_intestine(4)|lung(4) 10 AATATTCTTTCTGTTTGTAAG 0.299000 16 63 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128392735 128392735 + Silent SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:128392735G>A ENST00000389524.4 + 42 5732 c.5679G>A c.(5677-5679)cgG>cgA p.R1893R MYO7B_ENST00000428314.1_Silent_p.R1892R|MYO7B_ENST00000409816.2_Silent_p.R1892R|MYO7B_ENST00000409090.1_Silent_p.R745R Q6PIF6 MYO7B_HUMAN myosin VIIB 1892 FERM 2.|MyTH4 3. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACTTCATGCGGAAATTGTGGC 0.627000 8 25 0 0 1 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459884 66459884 + RNA SNP T T G rs139166660 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr9:66459884T>G ENST00000424345.1 + 0 144 tagtagatgttcttcagtgtc 0.368000 6 17 0 0 1 0 0 LOC101930452 101930452 broad.mit.edu 37 12 9548908 9548908 + RNA SNP G G C rs78201839 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr12:9548908G>C ENST00000567749.1 + 0 3083 GACCTGCAAAGCCAGGCAGAA 0.542000 4 11 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70279378 70279378 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr11:70279378C>T ENST00000346329.3 + 15 1635 c.1327C>T c.(1327-1329)Ccc>Tcc p.P443S CTTN_ENST00000376561.3_Missense_Mutation_p.P443S|CTTN_ENST00000538675.1_Missense_Mutation_p.P164S|CTTN_ENST00000301843.8_Missense_Mutation_p.P480S NM_138565.2 NP_612632.1 Q14247 SRC8_HUMAN cortactin 480 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GGGCCACTATCCCGCAGGTAC 0.687000 12 29 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98850543 98850543 + RNA SNP C C A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr12:98850543C>A ENST00000554295.1 - 0 380 NR_033801.1 GGGTACCATACCTCAGGATCA 0.527000 5 20 3.59834e-05 3.7619e-05 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 130 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57075434 57075434 + Nonsense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr16:57075434C>T ENST00000436936.1 + 18 3202 c.2977C>T c.(2977-2979)Cag>Tag p.Q993* NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q993*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q993*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q993* Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 993 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCACCTAGAGCAGCTCTGCAA 0.582000 14 60 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205538409 205538409 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:205538409G>A ENST00000367147.4 + 1 305 c.212G>A c.(211-213)gGg>gAg p.G71E MFSD4_ENST00000539267.1_Missense_Mutation_p.G71E|MFSD4_ENST00000536357.1_Missense_Mutation_p.G71E NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 71 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) AGCGCCCTCGGGGGCGTCTTC 0.741000 3 14 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99662020 99662020 + Missense_Mutation SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr7:99662020C>T ENST00000292450.4 + 4 1366 c.1202C>T c.(1201-1203)gCg>gTg p.A401V ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 401 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) AGTCAGCATGCGGGCCTCAGC 0.522000 4 173 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16960045 16960045 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:16960045delT ENST00000412962.1 - 0 16 atacaaaaaattagccaggtg 0.537 2 4 --- --- --- --- LINC01355 100996511 broad.mit.edu 37 1 23611611 23611612 + RNA INS - - TGAG rs58087683 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:23611611_23611612insTGAG ENST00000566551.1 - 0 1633_1634 gcctggaggactgagactcagt 0.480 4 3 --- --- --- --- SLC2A1-AS1 440584 broad.mit.edu 37 1 43433830 43433831 + RNA INS - - A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:43433830_43433831insA ENST00000431759.1 + 0 529 NR_033967.1 ctccatcccagaaaaaaaaaaa 0.436 2 4 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 7 102 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121140484 121140485 + RNA DEL AA AA - rs77501191 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:121140484_121140485delAA ENST00000417218.1 + 0 551 tgatggggttaaaaaaaaaaaa 0.446 5 11 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142663276 142663277 + RNA DEL AA AA - rs61807144 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:142663276_142663277delAA ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA CATTTTTAGCAAAGTTGTTGCA 0.540 3 4 --- --- --- --- LINC00970 101978719 broad.mit.edu 37 1 168878973 168878973 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:168878973delA ENST00000366408.3 - 0 209 aacttgcaccaaaaaaaagtc 0.453 2 4 --- --- --- --- RPS10P7 376693 broad.mit.edu 37 1 201493458 201493458 + RNA DEL G G - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr1:201493458delG ENST00000441932.1 + 0 1948 RP11-134G8.7_ENST00000454651.1_RNA NR_026667.1 aatggagccaggtgtggtgac 0.423 2 4 --- --- --- --- AC105393.1 0 broad.mit.edu 37 2 410021 410023 + RNA DEL CAC CAC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:410021_410023delCAC ENST00000431911.1 + 0 186 tcgtcatccacaccaccatccac 0.527 4 3 --- --- --- --- AC105399.2 0 broad.mit.edu 37 2 78019880 78019880 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:78019880delT ENST00000422418.1 + 0 130 TAAAAATTCCTTTTTTTTTTT 0.393 3 3 --- --- --- --- LOC101927795 101927795 broad.mit.edu 37 2 201670645 201670645 + RNA DEL T T - rs76218291 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr2:201670645delT ENST00000447972.3 - 0 386 cttcttcttcttttttttttc 0.453 3 3 --- --- --- --- AC026188.1 0 broad.mit.edu 37 3 3483705 3483706 + RNA DEL CA CA - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:3483705_3483706delCA ENST00000455703.1 - 0 59 aatacacatgcacacacacaca 0.356 2 4 --- --- --- --- AC133680.1 0 broad.mit.edu 37 3 24827973 24827974 + RNA DEL TG TG - rs6147734 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:24827973_24827974delTG ENST00000455576.1 + 0 132 AATAAGATCAtgtgtgtgtgtg 0.421 2 4 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67834498 67834500 + RNA DEL GCT GCT - rs34065577 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:67834498_67834500delGCT ENST00000482677.1 + 0 615 AGTTACGCAGGCTGCTTTGTGCC 0.399 3 4 --- --- --- --- ECT2 1894 broad.mit.edu 37 3 172491750 172491752 + In_Frame_Del DEL GAG GAG - rs142499943 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr3:172491750_172491752delGAG ENST00000417960.1 + 14 1867_1869 c.1390_1392delGAG c.(1390-1392)del p.E465del ECT2_ENST00000427830.1_In_Frame_Del_p.E466del|ECT2_ENST00000441497.2_In_Frame_Del_p.E466del|ECT2_ENST00000392692.3_In_Frame_Del_p.E497del|ECT2_ENST00000540509.1_In_Frame_Del_p.E497del|ECT2_ENST00000232458.5_In_Frame_Del_p.E466del NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 466 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CCTTGCACCAGAGGAGATTAAGA 0.340 22 66 --- --- --- --- TACC3 10460 broad.mit.edu 37 4 1742685 1742688 + Frame_Shift_Del DEL AGAA AGAA - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:1742685_1742688delAGAA ENST00000313288.4 + 13 2301_2304 c.2195_2198delAGAA c.(2194-2199)cafs p.QK732fs NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 732 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) TTTGAGAAACAGAAAGAGGTGATC 0.515 40 174 --- --- --- --- LOC102723828 102723828 broad.mit.edu 37 4 32007449 32007450 + RNA INS - - C TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:32007449_32007450insC ENST00000513211.1 + 0 426 ttcctcttcttcttcctcttct 0.480 2 4 --- --- --- --- UBA6-AS1 550112 broad.mit.edu 37 4 68896880 68896880 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:68896880delT ENST00000500538.2 + 0 1905 aattttccactacctacccaa 0.493 2 4 --- --- --- --- IL21-AS1 100996941 broad.mit.edu 37 4 123556924 123556924 + RNA DEL T T - rs80270786 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr4:123556924delT ENST00000417927.1 + 0 2797 ACAGTACGTATTTTTTTTTTA 0.303 2 4 --- --- --- --- RP11-804N13.1 0 broad.mit.edu 37 5 21625520 21625521 + RNA INS - - T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr5:21625520_21625521insT ENST00000522350.1 + 0 476 ggggttgtttatttcttgtaaa 0.371 2 4 --- --- --- --- TCP11 6954 broad.mit.edu 37 6 35108525 35108525 + Splice_Site DEL G G - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr6:35108525delG ENST00000311875.5 - 2 579 c.163_splice c.e2+1 p.P54_splice TCP11_ENST00000512012.1_Splice_Site_p.P41_splice|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000444780.2_Splice_Site_p.P54_splice|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000418521.2_Intron Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 41 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 TGGACCTACAGGGAGGGGGGT 0.647 8 38 --- --- --- --- RASA4CP 401331 broad.mit.edu 37 7 44073250 44073251 + RNA INS - - AAC TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:44073250_44073251insAAC ENST00000446874.1 - 0 502 acttggtatcaaacaacaacaa 0.436 2 4 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 5 2 --- --- --- --- GS1-57L11.1 0 broad.mit.edu 37 8 2663275 2663275 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:2663275delA ENST00000520024.1 + 0 300 CATGTGGCTGAAAAAAGACTC 0.448 2 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117028113 117028113 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr8:117028113delT ENST00000505156.2 - 0 1558 NR_046215.1 acttaatagcttttttttttc 0.303 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66461837 66461838 + RNA INS - - A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:66461837_66461838insA ENST00000424345.1 + 0 224 atacctcatttattgagaattt 0.322 4 3 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66464331 66464332 + RNA INS - - A rs142894132 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:66464331_66464332insA ENST00000424345.1 + 0 224 GCACAATAGACAAAATATTCTC 0.332 4 4 --- --- --- --- NR4A3 8013 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 7 86 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 7 88 --- --- --- --- RP11-54A9.1 0 broad.mit.edu 37 12 76672342 76672343 + RNA DEL GT GT - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr12:76672342_76672343delGT ENST00000553247.1 + 0 77 TGGCATGGTAGTGTGTGTGGCT 0.485 2 4 --- --- --- --- KTN1-AS1 100129075 broad.mit.edu 37 14 56014174 56014174 + RNA DEL G G - rs72015246 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:56014174delG ENST00000554558.1 - 0 364 aaaaaaaaaagaaTTGGCACA 0.443 5 11 --- --- --- --- RP11-486O13.4 0 broad.mit.edu 37 14 70987174 70987175 + RNA DEL TG TG - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr14:70987174_70987175delTG ENST00000556646.1 - 0 183 ctactctgcctgtgttctgtca 0.416 2 4 --- --- --- --- LOC102723461 102723461 broad.mit.edu 37 15 21965351 21965351 + RNA DEL A A - rs138566364 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:21965351delA ENST00000500487.1 - 0 254 ttcacttactaaaaaaaaaat 0.363 2 4 --- --- --- --- GOLGA6L2 283685 broad.mit.edu 37 15 23685749 23685751 + In_Frame_Del DEL CTC CTC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:23685749_23685751delCTC ENST00000567107.1 - 8 1923_1925 c.1871_1873delGAG c.(1870-1875)gaa>g p.GE624del GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron golgin A6 family-like 2 breast(1)|endometrium(7) 8 ctcgcatcttctcctcctggtcc 0.586 3 6 --- --- --- --- LOC101929232 101929232 broad.mit.edu 37 15 29040257 29040258 + RNA INS - - TG rs149728175 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr15:29040257_29040258insTG ENST00000562423.1 + 0 267 CAAAAGAAATAtgtgtgtgtgt 0.337 3 5 --- --- --- --- RP11-10K17.6 0 broad.mit.edu 37 16 5192290 5192290 + RNA DEL A A - rs79587073 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:5192290delA ENST00000589323.1 + 0 451 tcccatttctaaaaaaaaaaa 0.483 2 4 --- --- --- --- RP11-26L20.3 0 broad.mit.edu 37 16 55326242 55326242 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:55326242delT ENST00000558730.2 - 0 88 ggaagacagataatgaacaag 0.458 2 4 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 8 102 --- --- --- --- RP11-260A9.6 0 broad.mit.edu 37 17 25318216 25318216 + RNA DEL T T - rs111803514 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr17:25318216delT ENST00000580686.1 - 0 189 TGCTGGCCTCTGGCAGGCTGG 0.612 2 4 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2348975 2348976 + RNA DEL TC TC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:2348975_2348976delTC ENST00000452401.2 + 0 1431 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGATTCCGTTCTCTCTCCACA 0.520 4 2 --- --- --- --- ZIM2-AS1 101929059 broad.mit.edu 37 19 57282349 57282349 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr19:57282349delT ENST00000595954.1 + 0 71 AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA TTGGAAAAAATGCATAATAAT 0.224 2 4 --- --- --- --- NKX2-4 644524 broad.mit.edu 37 20 21378018 21378020 + In_Frame_Del DEL TGC TGC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:21378018_21378020delTGC ENST00000351817.4 - 1 646_648 c.18_20delGCA c.(16-21)aac>aa p.KH6del NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 6 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 GGGCGTCGTGTGCTTTGGGCTCA 0.739 12 26 --- --- --- --- DLGAP4-AS1 101926987 broad.mit.edu 37 20 35185947 35185947 + RNA DEL A A - rs112371150 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr20:35185947delA ENST00000439595.1 - 0 467 RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA actccgtctcaaaaaaaaaaa 0.552 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11087107 11087108 + RNA INS - - A rs59538900 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:11087107_11087108insA ENST00000470054.1 - 0 324 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) gactccatctcaaaaaaaaatt 0.460 5 1 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11090438 11090438 + RNA DEL T T - rs111496627 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 682f554f-98f2-451a-b28c-d9a10cc66211 g.chr21:11090438delT ENST00000470054.1 - 0 324 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) aattatttacttttttttttt 0.398 4 2 --- --- --- --- CROCCP2 84809 broad.mit.edu 37 1 16960045 16960045 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:16960045delT ENST00000412962.1 - 0 16 atacaaaaaattagccaggtg 0.537 2 4 --- --- --- --- LINC01355 100996511 broad.mit.edu 37 1 23611611 23611612 + RNA INS - - TGAG rs58087683 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:23611611_23611612insTGAG ENST00000566551.1 - 0 1633_1634 gcctggaggactgagactcagt 0.480 4 3 --- --- --- --- LOC102606465 102606465 broad.mit.edu 37 1 101532419 101532419 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:101532419delA ENST00000446527.1 + 0 143 RP11-421L21.3_ENST00000453011.1_RNA|RP11-421L21.3_ENST00000416329.1_RNA ttacataggtaaatatgtgct 0.403 2 4 --- --- --- --- RP11-297H3.3 0 broad.mit.edu 37 1 170183980 170183981 + RNA DEL CA CA - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:170183980_170183981delCA ENST00000439184.1 + 0 304 gtctctctgtcacacacacaca 0.465 4 3 --- --- --- --- RP1-35C21.2 0 broad.mit.edu 37 1 177504597 177504598 + RNA INS - - A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:177504597_177504598insA ENST00000438575.1 - 0 296 aaacaaaaaagaaaaaaaaaag 0.386 2 4 --- --- --- --- RP11-323I1.1 0 broad.mit.edu 37 1 213954098 213954098 + RNA DEL G G - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:213954098delG ENST00000456240.1 + 0 143 agggctcagtggtgcatgcct 0.517 2 4 --- --- --- --- LOC101927787 101927787 broad.mit.edu 37 1 234811423 234811424 + RNA INS - - TG TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr1:234811423_234811424insTG ENST00000442382.1 - 0 96 gtgtgtgtgcatgtgtgtgtgt 0.450 2 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22174521 22174522 + RNA INS - - AGAA rs79348110 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:22174521_22174522insAGAA ENST00000450551.1 - 0 296 AC068490.1_ENST00000430520.1_lincRNA gtgatgaagagagaaagaaagg 0.381 3 3 --- --- --- --- LOC102723824 102723824 broad.mit.edu 37 2 42389868 42389869 + RNA DEL CA CA - rs140855840 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:42389868_42389869delCA ENST00000422013.2 - 0 262 aaaacaaaaccacacacacaca 0.515 2 4 --- --- --- --- AC105399.2 0 broad.mit.edu 37 2 78019880 78019880 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:78019880delT ENST00000422418.1 + 0 130 TAAAAATTCCTTTTTTTTTTT 0.393 3 3 --- --- --- --- LINC01114 284998 broad.mit.edu 37 2 105366609 105366609 + RNA DEL G G - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:105366609delG ENST00000425879.1 - 0 1754 NR_038231.1 TGAGGCCTGTGGAGGTTGAAG 0.642 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 164688145 164688145 + RNA DEL A A - rs35683701 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr2:164688145delA ENST00000429636.1 - 0 379 cttacctttcacaggttacaa 0.408 5 2 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67971538 67971538 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr3:67971538delA ENST00000482677.1 + 0 1653 TGCGTCACTGAAAAAAAATGA 0.413 2 4 --- --- --- --- RP11-501O2.4 0 broad.mit.edu 37 3 147946505 147946508 + RNA DEL AACT AACT - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr3:147946505_147946508delAACT ENST00000460324.1 - 0 317 TGTCaaaaagaactaacatgtttt 0.304 2 4 --- --- --- --- RP11-625I7.1 0 broad.mit.edu 37 4 78383580 78383581 + RNA INS - - T rs146128986 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr4:78383580_78383581insT ENST00000513871.1 - 0 122 gttttgttttgtttttttgctt 0.386 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190767809 190767809 + RNA DEL C C - rs66472777 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr4:190767809delC ENST00000511785.1 - 0 425 attctcCGTGCCGTGTCCCTC 0.632 2 4 --- --- --- --- LOC285696 285696 broad.mit.edu 37 5 17189014 17189015 + RNA INS - - A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr5:17189014_17189015insA ENST00000399760.2 - 0 971 NR_027253.1 AGAAGACACAGAAAAAAAAAGC 0.322 2 4 --- --- --- --- LINC01336 104326191 broad.mit.edu 37 5 74347312 74347312 + RNA DEL T T - rs34550195 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr5:74347312delT ENST00000503568.1 - 0 215 TATGTGGTGCTGTGATAAGCC 0.537 4 2 --- --- --- --- RP11-203H2.1 0 broad.mit.edu 37 6 8331045 8331045 + RNA DEL C C - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr6:8331045delC ENST00000439891.2 + 0 269 TGGTTCTGCTCCACAGTGTGG 0.498 2 4 --- --- --- --- LINC01010 154092 broad.mit.edu 37 6 134787874 134787874 + RNA DEL G G - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr6:134787874delG ENST00000431422.1 + 0 275 RP11-557H15.3_ENST00000417483.1_lincRNA NR_038217.1|NR_038218.1 actagtccaagaaACCCAGAA 0.363 2 4 --- --- --- --- RASA4CP 401331 broad.mit.edu 37 7 44073250 44073251 + RNA INS - - AAC TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr7:44073250_44073251insAAC ENST00000446874.1 - 0 502 acttggtatcaaacaacaacaa 0.436 2 4 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 64778994 64778994 + RNA DEL C C - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr8:64778994delC ENST00000524360.1 - 0 247 RP11-32K4.1_ENST00000523191.1_RNA|RP11-32K4.1_ENST00000521958.1_RNA ttagatagttcccagagtgcc 0.527 2 4 --- --- --- --- AC104417.1 0 broad.mit.edu 37 8 143026959 143026960 + RNA DEL GC GC - rs57562651 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr8:143026959_143026960delGC ENST00000408196.1 + 0 100_101 gcatgtgtgtgcgtgtgcatgt 0.540 2 4 --- --- --- --- LINC01410 103352539 broad.mit.edu 37 9 66461837 66461838 + RNA INS - - A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr9:66461837_66461838insA ENST00000424345.1 + 0 224 atacctcatttattgagaattt 0.322 4 3 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66522446 66522446 + RNA DEL C C - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr9:66522446delC ENST00000445604.2 - 0 1465 TGTCACATGTCCTGCTACCCC 0.483 2 4 --- --- --- --- LINC01501 340515 broad.mit.edu 37 9 93249341 93249341 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr9:93249341delA ENST00000449990.1 - 0 647 NR_034157.1 ATCAGAGAGCAAAAAAAGTGA 0.493 2 4 --- --- --- --- RP11-94P11.4 0 broad.mit.edu 37 11 105181392 105181392 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr11:105181392delA ENST00000528811.1 - 0 96 TTCAGTACCTATCTCCTTCAA 0.428 2 4 --- --- --- --- RN7SL770P 0 broad.mit.edu 37 12 56589124 56589124 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr12:56589124delT ENST00000581566.1 + 0 194 agtgcagtggtgcgatcatgg 0.552 2 4 --- --- --- --- RP11-171L9.1 0 broad.mit.edu 37 12 78928361 78928361 + RNA DEL G G - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr12:78928361delG ENST00000546865.1 - 0 85 tttgaaccttggtctttttca 0.393 2 4 --- --- --- --- RP11-244H18.3 0 broad.mit.edu 37 14 20108142 20108142 + RNA DEL C C - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr14:20108142delC ENST00000551144.1 + 0 438 RP11-597A11.1_ENST00000548261.1_RNA ATGATGCCCACGTGAGCTGGC 0.408 4 3 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20143915 20143915 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr14:20143915delA ENST00000548261.1 + 0 391 ACAAGCAACCAAAAACTACAC 0.428 3 5 --- --- --- --- RP11-486O13.4 0 broad.mit.edu 37 14 70987174 70987175 + RNA DEL TG TG - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr14:70987174_70987175delTG ENST00000556646.1 - 0 183 ctactctgcctgtgttctgtca 0.416 2 4 --- --- --- --- LOC102723461 102723461 broad.mit.edu 37 15 21965351 21965351 + RNA DEL A A - rs138566364 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr15:21965351delA ENST00000500487.1 - 0 254 ttcacttactaaaaaaaaaat 0.363 2 4 --- --- --- --- RP11-507B12.1 0 broad.mit.edu 37 15 61978601 61978601 + RNA DEL C C - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr15:61978601delC ENST00000559590.1 - 0 57 tacctctgtaccaggacattt 0.463 2 4 --- --- --- --- RP11-510J16.5 0 broad.mit.edu 37 16 82142059 82142059 + RNA DEL C C - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr16:82142059delC ENST00000567021.1 - 0 43 ttgataggttcagcaaaccac 0.428 2 4 --- --- --- --- OR1R1P 9596 broad.mit.edu 37 17 3289283 3289284 + RNA INS - - ACAG rs141499169 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr17:3289283_3289284insACAG ENST00000573491.1 - 0 169 TGGTGGACGGAACAGACGCCCA 0.644 4 2 --- --- --- --- MYHAS 100128560 broad.mit.edu 37 17 10480115 10480115 + RNA DEL G G - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr17:10480115delG ENST00000587182.1 + 0 231 TGTAGACTGTGGGAGAAGAGT 0.438 2 4 --- --- --- --- RP11-861E21.1 0 broad.mit.edu 37 18 12433732 12433732 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr18:12433732delT ENST00000589843.1 + 0 104 ccggccagtattttttttttt 0.557 3 2 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22420746 22420749 + RNA DEL TGTA TGTA - rs150796141 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr18:22420746_22420749delTGTA ENST00000582650.1 + 0 235 tgtacgtatgtgtatgtgtctatg 0.402 4 2 --- --- --- --- RP11-157P23.2 0 broad.mit.edu 37 18 45049153 45049154 + RNA INS - - A rs146814119 by1000genomes TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr18:45049153_45049154insA ENST00000565127.1 + 0 275 atattttttttatcccctacaG 0.426 4 3 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54842290 54842290 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr19:54842290delT ENST00000507363.1 - 0 430 cagccCCCTCtttttttttta 0.557 2 4 --- --- --- --- FAM182A 284800 broad.mit.edu 37 20 26054990 26054992 + RNA DEL CAC CAC - rs111574025 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr20:26054990_26054992delCAC ENST00000376398.2 + 0 819 NR_026713.1 breast(1)|endometrium(2)|kidney(1) 4 acttcattatcaccacctCcacc 0.458 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29595617 29595618 + RNA INS - - A rs145720535 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr20:29595617_29595618insA ENST00000432067.1 - 0 74 CTATTCCATGTAAAAAAATCAC 0.401 2 4 --- --- --- --- APCDD1L-AS1 149773 broad.mit.edu 37 20 57132361 57132361 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr20:57132361delA ENST00000427140.1 + 0 943 NR_034147.1 tgctgagtggagggagggtgt 0.547 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11045626 11045626 + RNA DEL G G - rs60108847 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr21:11045626delG ENST00000470054.1 - 0 774 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) TCCAAAATAAGATGTGAAAAG 0.363 6 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069012 11069013 + RNA INS - - C rs150046862 TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr21:11069012_11069013insC ENST00000470054.1 - 0 324 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) tttttcaacttcaaaaaattaa 0.272 3 5 --- --- --- --- ABCC13 150000 broad.mit.edu 37 21 15696997 15696998 + RNA INS - - AA TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr21:15696997_15696998insAA ENST00000482980.1 + 0 2888 ctgtctcaaagaaaaaaaaaaa 0.446 2 4 --- --- --- --- AP000318.2 0 broad.mit.edu 37 21 35657458 35657458 + RNA DEL A A - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr21:35657458delA ENST00000427022.1 + 0 430 tcctcgtgataagtgtattta 0.433 2 4 --- --- --- --- CTA-833B7.2 0 broad.mit.edu 37 22 37248347 37248347 + RNA DEL T T - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chr22:37248347delT ENST00000330602.2 - 0 349 tagcggggcgtggtggcagat 0.502 2 4 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5ed20959-4227-4868-b41a-972b2074725c 862ef39a-d56e-43e6-91eb-be0aa35560d1 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 8 96 --- --- --- ---