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 SLC12A5 57468 broad.mit.edu 37 20 44670044 44670044 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr20:44670044G>C ENST00000454036.1 + 8 1076 c.1000G>C c.(1000-1002)Gag>Cag p.E334Q SLC12A5_ENST00000243964.3_Missense_Mutation_p.E311Q|SLC12A5_ENST00000539566.1_Intron NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 334 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGAAGGAAATGAGACGGTGAC 0.542000 6 74 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048729 180048729 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:180048729C>T ENST00000261937.6 - 13 1911 c.1833G>A c.(1831-1833)aaG>aaA p.K611K FLT4_ENST00000502649.1_Silent_p.K611K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.K611K NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 611 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GATGCACGTTCTTGCAGTCGA 0.672000 5 62 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906627 13906627 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:13906627C>T ENST00000279593.3 - 3 843 c.634G>A c.(634-636)Gga>Aga p.G212R NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 212 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTAGAATCTCCATCGTCCAGG 0.473000 6 78 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46244997 46244997 + Nonsense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:46244997C>T ENST00000334344.6 + 15 3263 c.3091C>T c.(3091-3093)Cag>Tag p.Q1031* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q641*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q882* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1031 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGTACAAGTTCAGCAGCCCCA 0.502000 """N, S, F""" hepatocellular carcinoma 9 78 0 0 1 0 0 EDEM1 9695 broad.mit.edu 37 3 5244672 5244672 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:5244672C>T ENST00000256497.4 + 5 1013 c.880C>T c.(880-882)Cct>Tct p.P294S EDEM1_ENST00000445686.1_Missense_Mutation_p.P99S NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 294 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) GACAGGAGTTCCTCCTGACAC 0.512000 7 76 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134647628 134647628 + Splice_Site SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:134647628C>G ENST00000368586.5 - 49 6967 c.e49-1 TTC40_ENST00000263170.5_Splice_Site NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TGTCTGCACTCTGAAAGTCAG 0.502000 9 68 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949733 27949733 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr9:27949733C>T ENST00000379992.2 - 6 1386 c.937G>A c.(937-939)Gag>Aag p.E313K LINGO2_ENST00000308675.3_Missense_Mutation_p.E313K NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 313 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GAGTGAGGCTCAATGGTGCGA 0.542000 5 69 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr21:11098863A>G ENST00000470054.1 - 0 62 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) ccagcctccaactcccccttc 0.627000 3 19 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122437591 122437591 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:122437591C>G ENST00000474629.2 + 14 4859 c.4593C>G c.(4591-4593)atC>atG p.I1531M PARP14_ENST00000475640.1_3'UTR NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1531 WWE. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CAGATTGTATCAGTGAGTTTA 0.388000 6 159 0 0 1 0 0 CNIH2 254263 broad.mit.edu 37 11 66050518 66050518 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:66050518G>C ENST00000528852.1 + 4 478 c.211G>C c.(211-213)Gaa>Caa p.E71Q CNIH2_ENST00000530519.1_3'UTR|CNIH2_ENST00000311445.6_Missense_Mutation_p.E71Q Q6PI25 CNIH2_HUMAN cornichon family AMPA receptor auxiliary protein 2 71 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 GGTGGTCCCAGAATACTCCAT 0.597000 OREG0021100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 157 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3824138 3824138 + Missense_Mutation SNP T T C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:3824138T>C ENST00000497571.1 - 2 631 c.371A>G c.(370-372)aAg>aGg p.K124R KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Missense_Mutation_p.K124R|KLF6_ENST00000542957.1_Missense_Mutation_p.K124R NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 124 B cell differentiation nucleus zinc ion binding p.K124R(1) breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) GGAGGTAAACTTGGCCGTGGG 0.532000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 152 0 0 1 0 0 YBX3 8531 broad.mit.edu 37 12 10862690 10862690 + Silent SNP T T C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:10862690T>C ENST00000228251.4 - 6 797 c.597A>G c.(595-597)gaA>gaG p.E199E YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Intron NM_003651.4 NP_003642.3 Y box binding protein 3 TGCCGCTCCCTTCCTCCTCCT 0.537000 2 20 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69201033 69201033 + Nonsense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:69201033C>G ENST00000314423.7 + 16 2066 c.1889C>G c.(1888-1890)tCa>tGa p.S630* CIRH1A_ENST00000352319.4_Nonsense_Mutation_p.S515*|CIRH1A_ENST00000563094.1_3'UTR Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 630 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) ACGAATGAATCAGATGTCATC 0.363000 4 84 0 0 1 0 0 ACVR1B 91 broad.mit.edu 37 12 52345548 52345548 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:52345548C>T ENST00000257963.4 + 1 98 c.21C>T c.(19-21)gcC>gcT p.A7A ACVR1B_ENST00000426655.2_Silent_p.A7A|ACVR1B_ENST00000415850.2_Silent_p.A7A|ACVR1B_ENST00000541224.1_Silent_p.A7A NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 7 G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CGGCCGGAGCCTCCTCCTTCT 0.806000 3 8 0 0 1 0 0 TSR1 55720 broad.mit.edu 37 17 2233812 2233812 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:2233812C>T ENST00000301364.4 - 10 2846 c.1767G>A c.(1765-1767)caG>caA p.Q589Q NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 589 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 AATTTACCTTCTGTTCATGAG 0.433000 4 75 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064628 7064628 + Silent SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:7064628C>G ENST00000299481.4 + 4 1717 c.1371C>G c.(1369-1371)gtC>gtG p.V457V NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 457 NACHT. 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) AATCTGATGTCTCTAGTTTTA 0.408000 4 84 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130910385 130910385 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr2:130910385C>T ENST00000409031.1 - 20 3492 c.2344G>A c.(2344-2346)Gaa>Aaa p.E782K SMPD4_ENST00000431183.2_Missense_Mutation_p.E680K|SMPD4_ENST00000453750.1_Missense_Mutation_p.E531K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E640K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E753K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E418K|SMPD4_ENST00000443958.2_Missense_Mutation_p.E446K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E523K NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 743 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) AGCCCAGGTTCTGTGAGGTGG 0.672000 3 12 0 0 1 0 0 EBPL 84650 broad.mit.edu 37 13 50237326 50237326 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr13:50237326C>T ENST00000378284.2 - 3 285 c.247G>A c.(247-249)Gaa>Aaa p.E83K EBPL_ENST00000378270.5_Intron|EBPL_ENST00000242827.6_Missense_Mutation_p.E83K|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378282.5_Intron NM_001278636.1 NP_001265565.1 Q9BY08 EBPL_HUMAN emopamil binding protein-like 83 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) TTGCCATATTCTTTCCCTAAA 0.398000 6 81 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597776 36597776 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:36597776C>T ENST00000299440.5 + 2 3034 c.2922C>T c.(2920-2922)ttC>ttT p.F974F NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 974 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TTAGGCGCTTCCGGAAAATGA 0.468000 Familial Hemophagocytic Lymphohistiocytosis 8 86 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43616136 43616136 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:43616136G>A ENST00000264663.5 + 4 789 c.568G>A c.(568-570)Gat>Aat p.D190N NNT_ENST00000344920.4_Missense_Mutation_p.D190N|NNT_ENST00000512996.2_Missense_Mutation_p.D59N NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 190 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TCAGGGATATGATGCGCTAAG 0.443000 9 83 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3523039 3523039 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:3523039G>A ENST00000441788.2 + 2 288 c.52G>A c.(52-54)Gag>Aag p.E18K FZR1_ENST00000395095.3_Missense_Mutation_p.E18K|FZR1_ENST00000313639.8_Missense_Mutation_p.E18K NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 18 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CATCCAGAATGAGAACACGAT 0.687000 16 120 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451644 19451644 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:19451644C>G ENST00000396229.2 + 3 1033 c.284C>G c.(283-285)tCt>tGt p.S95C TMC5_ENST00000381414.4_Missense_Mutation_p.S95C|TMC5_ENST00000542583.2_Missense_Mutation_p.S95C|TMC5_ENST00000541464.1_Missense_Mutation_p.S95C NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 95 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCTGCAGCCTCTAGAACAAGC 0.483000 16 149 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18119799 18119799 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:18119799G>A ENST00000222250.4 + 3 504 c.361G>A c.(361-363)Gag>Aag p.E121K ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.E116K NM_015683.1 NP_056498.1 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 121 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 GACATCCTTCGAGGGCAAACA 0.617000 6 134 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47177807 47177807 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:47177807C>T ENST00000433867.1 - 19 3087 c.2610G>A c.(2608-2610)ggG>ggA p.G870G PRKD2_ENST00000291281.4_Silent_p.G870G|PRKD2_ENST00000601806.1_Silent_p.G713G|PRKD2_ENST00000600194.1_Silent_p.G713G|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Silent_p.G880G NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 870 G -> E (in a gastric adenocarcinoma sample; somatic mutation). cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GCTCCGCCAGCCCCTGCATGT 0.632000 5 36 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19195026 19195026 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:19195026G>A ENST00000562034.1 + 3 4123 c.325G>A c.(325-327)Gat>Aat p.D109N SYT17_ENST00000355377.2_Missense_Mutation_p.D170N|SYT17_ENST00000562711.2_Missense_Mutation_p.D166N|SYT17_ENST00000568115.1_Missense_Mutation_p.D109N Q9BSW7 SYT17_HUMAN synaptotagmin XVII 170 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 CAACAGCGACGATGTGGACTC 0.567000 9 75 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7979610 7979610 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:7979610G>A ENST00000319144.4 - 11 1675 c.1415C>T c.(1414-1416)tCg>tTg p.S472L ALOX12B_ENST00000577351.1_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 472 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 GGTGAGCTCCGACAGAGCCCG 0.607000 Multiple Myeloma(8;0.094) 5 26 0 0 1 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42976211 42976211 + Nonsense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:42976211C>T ENST00000485511.1 + 9 1203 c.1024C>T c.(1024-1026)Cag>Tag p.Q342* PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.Q334*|PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.Q310*|PPP2R5D_ENST00000461010.1_Nonsense_Mutation_p.Q236* NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 342 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTACCACCCTCAGGTGAGCTG 0.532000 5 54 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 2 10 0 0 1 0 0 NASP 4678 broad.mit.edu 37 1 46080813 46080813 + Nonsense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:46080813C>T ENST00000350030.3 + 10 1882 c.1795C>T c.(1795-1797)Cag>Tag p.Q599* NASP_ENST00000402363.3_Nonsense_Mutation_p.Q601*|NASP_ENST00000372052.4_Nonsense_Mutation_p.Q233*|NASP_ENST00000351223.3_Nonsense_Mutation_p.Q260*|NASP_ENST00000537798.1_Nonsense_Mutation_p.Q535*|NASP_ENST00000530073.1_3'UTR NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 599 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding p.Q601*(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GTACAACTCTCAGTATGATGA 0.512000 4 85 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173337561 173337561 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:173337561G>A ENST00000265085.5 + 2 2615 c.1161G>A c.(1159-1161)gaG>gaA p.E387E CPEB4_ENST00000519835.1_Silent_p.E387E|CPEB4_ENST00000522336.1_Silent_p.E5E|CPEB4_ENST00000517880.1_Silent_p.E5E|CPEB4_ENST00000334035.5_Silent_p.E387E|CPEB4_ENST00000520867.1_Silent_p.E387E NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 387 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACTCACTGGAGAGTTCACTCA 0.343000 9 115 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43858536 43858536 + Splice_Site SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:43858536C>T ENST00000389420.3 - 10 1367 c.e10-1 ADAMTS20_ENST00000553158.1_Splice_Site NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTAACCAGTACTGTAACAGTG 0.343000 4 20 0 0 1 0 0 TRBV5-7 0 broad.mit.edu 37 7 142111442 142111442 + RNA SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr7:142111442G>A ENST00000390378.1 - 0 293 GCAACAAGGCGTTCACATTCA 0.478000 8 80 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90020691 90020691 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:90020691C>T ENST00000563594.1 + 3 1028 c.31C>T c.(31-33)Cgg>Tgg p.R11W DEF8_ENST00000563795.1_Missense_Mutation_p.R11W|DEF8_ENST00000570182.1_Missense_Mutation_p.R11W|DEF8_ENST00000268676.7_Missense_Mutation_p.R72W|DEF8_ENST00000418391.2_Missense_Mutation_p.R11W|DEF8_ENST00000569453.1_Missense_Mutation_p.R11W|DEF8_ENST00000567874.1_Intron NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 72 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GGCCCGTTTCCGGCAGGCCCA 0.642000 4 79 0 0 1 0 0 EIF3D 8664 broad.mit.edu 37 22 36920659 36920659 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr22:36920659C>T ENST00000216190.8 - 4 660 c.290G>A c.(289-291)cGa>cAa p.R97Q EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Missense_Mutation_p.R97Q NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 97 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 AAATCTCATTCGATTCCGCTG 0.512000 14 114 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67979417 67979417 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:67979417C>G ENST00000422611.2 - 21 2932 c.2893G>C c.(2893-2895)Gag>Cag p.E965Q SLC12A4_ENST00000572037.1_Missense_Mutation_p.E915Q|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E932Q|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E957Q|SLC12A4_ENST00000316341.3_Missense_Mutation_p.E963Q|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E963Q NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 963 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TACAGGCTCTCCAGCCGCAGG 0.597000 5 76 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125780318 125780318 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:125780318G>A ENST00000263576.6 + 7 722 c.567G>A c.(565-567)caG>caA p.Q189Q RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 189 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) TGGTTGAGCAGATGGGAAAAT 0.478000 10 118 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346814 71346814 + Nonsense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr4:71346814C>G ENST00000413702.1 + 4 641 c.353C>G c.(352-354)tCa>tGa p.S118* MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Nonsense_Mutation_p.S118*|MUC7_ENST00000304887.5_Nonsense_Mutation_p.S118* NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 118 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACTTTCCCATCAGCTTCCACC 0.428000 5 69 0 0 1 0 0 CBX1 10951 broad.mit.edu 37 17 46148811 46148811 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:46148811C>G ENST00000393408.3 - 5 1024 c.544G>C c.(544-546)Gat>Cat p.D182H CBX1_ENST00000225603.4_Missense_Mutation_p.D182H NM_006807.4 NP_006798.1 P83916 CBX1_HUMAN chromobox homolog 1 182 nuclear heterochromatin|nucleoplasm|spindle chromatin binding|enzyme binding breast(1)|central_nervous_system(1)|kidney(1)|prostate(1) 4 TTCTTGTCATCTTTTTTGTCA 0.493000 3 43 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155450556 155450556 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:155450556C>T ENST00000461783.3 + 6 1472 c.199C>T c.(199-201)Cac>Tac p.H67Y TIAM2_ENST00000318981.5_Missense_Mutation_p.H67Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.H67Y|TIAM2_ENST00000529824.2_Missense_Mutation_p.H67Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H67Y Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 67 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTGCCTTTCTCACTTTAAGAG 0.547000 5 32 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39926406 39926406 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:39926406G>A ENST00000564288.1 + 92 22240 c.21463G>A c.(21463-21465)Gat>Aat p.D7155N MACF1_ENST00000372915.3_Missense_Mutation_p.D7054N|MACF1_ENST00000317713.7_Missense_Mutation_p.D5096N|MACF1_ENST00000567887.1_Missense_Mutation_p.D7192N|MACF1_ENST00000361689.2_Missense_Mutation_p.D5096N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4966N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5598N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5096N Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7054 C-terminal tail (By similarity).|GAR. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCGGCGCATTGATAAGGACCA 0.428000 10 150 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125780286 125780286 + Silent SNP T T C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:125780286T>C ENST00000263576.6 + 7 690 c.535T>C c.(535-537)Ttg>Ctg p.L179L RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 179 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) TACTTATGAATTGGCTCTGCA 0.448000 10 103 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73834209 73834209 + Splice_Site SNP G G T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:73834209G>T ENST00000342056.2 + 9 1619 c.1220_splice c.e9-1 p.K407_splice KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000370392.1_Splice_Site_p.K407_splice|KCNQ5_ENST00000370398.1_Splice_Site_p.K407_splice|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000414165.2_Splice_Site_p.K407_splice|KCNQ5_ENST00000355194.4_Splice_Site_p.K407_splice|KCNQ5_ENST00000403813.2_Intron NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 407 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GCACCTGAAGGAAAGAACAAG 0.383000 4 50 0.00024832 0.000257871 1 1 0 FBXO11 80204 broad.mit.edu 37 2 48040983 48040983 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr2:48040983C>G ENST00000403359.3 - 17 2102 c.2030G>C c.(2029-2031)aGa>aCa p.R677T FBXO11_ENST00000402508.1_Missense_Mutation_p.R593T|FBXO11_ENST00000316377.4_Missense_Mutation_p.R593T|FBXO11_ENST00000434523.2_Missense_Mutation_p.R101T NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 677 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTGTTGCGTCTAATTTTGGG 0.348000 """Mis, F, D""" DLBCL 6 34 0 0 1 0 0 HDGFRP2 0 broad.mit.edu 37 19 4501226 4501226 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:4501226G>A ENST00000301284.4 + 15 1892 c.1828G>A c.(1828-1830)Gag>Aag p.E610K HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E610K NM_001001520.1|NM_032631.2 NP_001001520.1|NP_116020.1 Q7Z4V5 HDGR2_HUMAN 605 transcription, DNA-dependent nucleus DNA binding|protein binding AGTGAATGGCGAGGCCACATC 0.637000 9 80 0 0 1 0 0 NPRL2 10641 broad.mit.edu 37 3 50386439 50386439 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:50386439C>T ENST00000232501.3 - 5 889 c.451G>A c.(451-453)Gag>Aag p.E151K NM_006545.4 NP_006536.3 Q8WTW4 NPRL2_HUMAN nitrogen permease regulator-like 2 (S. cerevisiae) 151 negative regulation of kinase activity protein binding|protein kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 11 GTGTTGGACTCATCTGCAGGG 0.557000 9 101 0 0 1 0 0 GIPC3 126326 broad.mit.edu 37 19 3586871 3586871 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:3586871C>T ENST00000322315.5 + 3 516 c.471C>T c.(469-471)atC>atT p.I157I NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 157 PDZ. breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GTGACAGCATCGAAGCCATCA 0.627000 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 42 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36995226 36995226 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:36995226G>C ENST00000274963.8 + 15 1798 c.1627G>C c.(1627-1629)Gac>Cac p.D543H NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 543 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 AGCCACGCCTGACCAGAGCCT 0.617000 18 177 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172573902 172573902 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:172573902C>G ENST00000231668.9 + 2 222 c.118C>G c.(118-120)Ctt>Gtt p.L40V BNIP1_ENST00000352523.6_Missense_Mutation_p.L40V|BNIP1_ENST00000351486.5_Missense_Mutation_p.L40V|BNIP1_ENST00000393770.4_Missense_Mutation_p.L40V NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 40 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTTAAGTGCTCTTACTGAACT 0.408000 6 46 0 0 1 0 0 ZNF177 7730 broad.mit.edu 37 19 9489680 9489680 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:9489680G>C ENST00000446085.4 + 7 608 c.76G>C c.(76-78)Gag>Cag p.E26Q ZNF177_ENST00000589262.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000541595.2_Missense_Mutation_p.E26Q|ZNF177_ENST00000343499.4_Missense_Mutation_p.E26Q|ZNF177_ENST00000602738.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000602856.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000590616.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.E26Q Q13360 ZN177_HUMAN zinc finger protein 177 26 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 CTTTTCCCAGGAGGAGTGGGC 0.458000 5 53 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43348594 43348594 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr15:43348594C>G ENST00000290650.4 - 11 1307 c.1229G>C c.(1228-1230)aGa>aCa p.R410T UBR1_ENST00000382177.2_Missense_Mutation_p.R410T NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 410 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AGAGATACTTCTGTCATGATC 0.284000 5 88 0 0 1 0 0 TNF 7124 broad.mit.edu 37 6 31543617 31543617 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr6:31543617C>T ENST00000449264.2 + 1 274 c.99C>T c.(97-99)ctC>ctT p.L33L NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 33 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) GCTTGTTCCTCAGCCTCTTCT 0.647000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 6 103 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51172499 51172499 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:51172499C>T ENST00000293441.1 - 22 2736 c.2718G>A c.(2716-2718)atG>atA p.M906I SHANK1_ENST00000359082.3_Missense_Mutation_p.M897I|SHANK1_ENST00000391814.1_Missense_Mutation_p.M914I|SHANK1_ENST00000391813.1_Missense_Mutation_p.M293I NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 906 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GGCTGAATTTCATGGCTGGGG 0.647000 OREG0025642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 41 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99063014 99063014 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr13:99063014C>T ENST00000376586.2 + 15 1965 c.1629C>T c.(1627-1629)ttC>ttT p.F543F FARP1_ENST00000595437.1_Silent_p.F543F|FARP1_ENST00000319562.6_Silent_p.F543F Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 543 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AAGCGTACTTCATAGCTAAGG 0.408000 3 28 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151475099 151475099 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:151475099C>T ENST00000356517.3 + 5 1032 c.923C>T c.(922-924)tCa>tTa p.S308L RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 308 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CTTAGTTATTCATTGCCAGGA 0.363000 8 105 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10209302 10209302 + Silent SNP T T C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:10209302T>C ENST00000377157.3 + 19 2978 c.1917T>C c.(1915-1917)taT>taC p.Y639Y UBE4B_ENST00000253251.8_Silent_p.Y755Y|UBE4B_ENST00000343090.6_Silent_p.Y884Y NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 884 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CTGAGTTTTATGTAGAAGATG 0.274000 5 53 0 0 1 0 0 RP11-1277A3.2 0 broad.mit.edu 37 5 177059130 177059130 + RNA SNP T T G rs6886539 by1000genomes TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr5:177059130T>G ENST00000515045.1 - 0 798 NR_026921.1 CTTGAGGTGGTTGAGTTAGAG 0.542000 3 50 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128036808 128036808 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr2:128036808C>G ENST00000493187.2 - 10 1942 c.1479G>C c.(1477-1479)aaG>aaC p.K493N ERCC3_ENST00000285398.2_Missense_Mutation_p.K557N P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 557 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) AGACAATAATCTTGTCATTCC 0.398000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 29 0 0 1 0 0 PHF16 0 broad.mit.edu 37 X 46898446 46898446 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chrX:46898446G>A ENST00000218343.4 + 8 1249 c.951G>A c.(949-951)ttG>ttA p.L317L PHF16_ENST00000397189.1_Silent_p.L317L NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 317 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 TGTGCAAGTTGAAGACGGGGG 0.532000 6 24 0 0 1 0 0 TPT1 7178 broad.mit.edu 37 13 45914212 45914212 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr13:45914212G>A ENST00000379056.1 - 2 278 c.108C>T c.(106-108)gtC>gtT p.V36V TPT1_ENST00000309246.5_Silent_p.V70V|TPT1_ENST00000379060.4_Silent_p.V58V|TPT1_ENST00000530705.1_Silent_p.V70V|TPT1_ENST00000379055.1_Silent_p.V36V|TPT1_ENST00000529421.1_5'UTR P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 70 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding lung(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) TGACAATATCGACACCAGTGA 0.458000 7 76 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45799002 45799002 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr21:45799002C>G ENST00000397928.1 + 8 1582 c.1137C>G c.(1135-1137)atC>atG p.I379M TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.I379M|TRPM2_ENST00000300482.5_Missense_Mutation_p.I379M|TRPM2_ENST00000397932.2_Missense_Mutation_p.I379M NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 379 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TCTCCCTGATCCAGCAGAAAC 0.597000 4 79 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45889407 45889407 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr19:45889407G>A ENST00000418234.2 - 9 1925 c.1847C>T c.(1846-1848)tCc>tTc p.S616F PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S616F NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 616 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CTTGCGCGGGGAGCCCGCCTT 0.662000 4 10 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81122505 81122505 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr4:81122505C>T ENST00000339711.4 + 9 1512 c.281C>T c.(280-282)tCg>tTg p.S94L PRDM8_ENST00000415738.2_Missense_Mutation_p.S94L|PRDM8_ENST00000504452.1_Missense_Mutation_p.S94L NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 94 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 TTGGTCCAATCGGCCAGAGAT 0.483000 8 33 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156821796 156821796 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:156821796G>A ENST00000368195.3 - 3 1221 c.825C>T c.(823-825)gtC>gtT p.V275V NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 275 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTCAGCTGTGACACAGCGCC 0.657000 5 35 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15780234 15780234 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr4:15780234G>A ENST00000226279.2 + 1 334 c.197G>A c.(196-198)cGa>cAa p.R66Q NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 66 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 GTCCTGGCGCGATGCGTCAAG 0.672000 11 62 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458006 42458006 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:42458006G>A ENST00000262407.5 - 14 1432 c.1401C>T c.(1399-1401)atC>atT p.I467I ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Silent_p.I467I NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 467 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity p.I467I(1) biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) AAGCTCCCACGATCAGGTCTA 0.602000 12 77 0 0 1 0 0 PACSIN3 29763 broad.mit.edu 37 11 47200728 47200728 + Missense_Mutation SNP C C A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:47200728C>A ENST00000539589.1 - 8 1224 c.882G>T c.(880-882)atG>atT p.M294I PACSIN3_ENST00000298838.6_Missense_Mutation_p.M294I NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 294 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 GTGGCCAGTTCATGGCCATGC 0.627000 26 265 2.68265e-12 2.81288e-12 1 1 0 CHST11 50515 broad.mit.edu 37 12 104851270 104851270 + Silent SNP C C A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:104851270C>A ENST00000303694.5 + 1 520 c.81C>A c.(79-81)atC>atA p.I27I CHST11_ENST00000546689.1_Silent_p.I27I|CHST11_ENST00000547956.1_Silent_p.I27I|CHST11_ENST00000549260.1_Silent_p.I27I NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 27 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 GATCCTTTATCCTGGTCATCT 0.532000 6 91 0.00116845 0.00119049 1 1 0 SNHG14 0 broad.mit.edu 37 15 25420149 25420149 + RNA SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr15:25420149G>A ENST00000441592.2 + 0 179 SNORD115-3_ENST00000363100.1_RNA GGATTACGCTGAGGCCTAGCC 0.498000 15 211 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59947626 59947626 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr18:59947626G>A ENST00000398130.2 + 23 3233 c.3001G>A c.(3001-3003)Gac>Aac p.D1001N KIAA1468_ENST00000256858.6_Intron NM_020854.3 NP_065905.2 Q9P260 K1468_HUMAN KIAA1468 1001 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) AGCGTTAGTTGACAAGCGGGT 0.448000 9 127 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72959073 72959073 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:72959073C>T ENST00000425042.2 - 4 568 c.491G>A c.(490-492)cGg>cAg p.R164Q HID1_ENST00000532900.1_5'UTR NM_030630.2 NP_085133.1 HID1 domain containing AGTGCTCCTCCGGTGGCTCTG 0.662000 8 72 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464395 25464395 + Missense_Mutation SNP C C A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:25464395C>A ENST00000376351.3 + 1 405 c.46C>A c.(46-48)Cag>Aag p.Q16K GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 16 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CCTGCTTGCTCAGCTGGGATT 0.637000 6 92 0.000274275 0.000282112 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149639635 149639635 + Missense_Mutation SNP A A T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chrX:149639635A>T ENST00000370401.2 + 4 2100 c.1790A>T c.(1789-1791)cAg>cTg p.Q597L MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L Q13495 MAMD1_HUMAN mastermind-like domain containing 1 597 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TTgcagctgcagcagcagcag 0.607000 3 53 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229567331 229567331 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:229567331G>C ENST00000366684.3 - 7 1151 c.1049C>G c.(1048-1050)tCg>tGg p.S350W ACTA1_ENST00000366683.2_Missense_Mutation_p.S262W NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 350 S -> L (in NEM3). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGTGGACAGCGAGGCCAGGAT 0.627000 11 194 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48395650 48395650 + Silent SNP A A G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:48395650A>G ENST00000380006.2 - 1 2143 c.690T>C c.(688-690)caT>caC p.H230H SIAH1_ENST00000356721.3_Silent_p.H261H|SIAH1_ENST00000394725.2_Silent_p.H230H|LONP2_ENST00000564259.1_3'UTR Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 230 SBD. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) ATCGTCGCCTATGACCATTTA 0.443000 3 34 0 0 1 0 0 LAMP2 0 broad.mit.edu 37 X 119573020 119573020 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chrX:119573020G>C ENST00000371335.4 - 9 1358 c.1222C>G c.(1222-1224)Cag>Gag p.Q408E LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.Q361E|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000434600.2_Intron NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 408 platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 TACAGAGTCTGATATCCAGCA 0.348000 7 33 0 0 1 0 0 COPZ1 22818 broad.mit.edu 37 12 54741787 54741787 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:54741787G>A ENST00000262061.2 + 7 436 c.399G>A c.(397-399)gtG>gtA p.V133V COPZ1_ENST00000548753.1_Silent_p.V45V|COPZ1_ENST00000553231.1_Silent_p.V110V|COPZ1_ENST00000549043.1_Silent_p.V141V|COPZ1_ENST00000416254.2_Silent_p.V82V|COPZ1_ENST00000552218.1_Silent_p.V154V|COPZ1_ENST00000549116.1_Silent_p.V75V|COPZ1_ENST00000552362.1_Silent_p.V133V|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000551779.1_Silent_p.V133V|COPZ1_ENST00000455864.2_Silent_p.V110V NM_001271734.1|NM_001271736.1|NM_016057.1 NP_001258663.1|NP_001258665.1|NP_057141.1 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 133 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 TTTGCAGGGTGATCCTAGAGA 0.512000 8 69 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114380398 114380398 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:114380398G>A ENST00000359785.5 - 13 1759 c.1624C>T c.(1624-1626)Cca>Tca p.P542S PTPN22_ENST00000538253.1_Missense_Mutation_p.P298S|PTPN22_ENST00000528414.1_Missense_Mutation_p.P487S|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.P415S|PTPN22_ENST00000420377.2_Missense_Mutation_p.P542S NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 542 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACCACTTGGAGGCCATGAT 0.393000 5 66 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662792 227662792 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr2:227662792G>A ENST00000305123.4 - 1 1683 c.663C>T c.(661-663)ttC>ttT p.F221F NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 221 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCTCGATGAAGAAGAAGTTTT 0.607000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 114 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7798683 7798683 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:7798683G>C ENST00000380358.4 + 10 1708 c.1707G>C c.(1705-1707)caG>caC p.Q569H CHD3_ENST00000358181.4_Missense_Mutation_p.Q510H|CHD3_ENST00000330494.7_Missense_Mutation_p.Q510H NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 510 Chromo 1. 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|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GTCGAGTGCAGAAGATCCTAC 0.557000 8 138 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67663340 67663340 + Missense_Mutation SNP G G C TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:67663340G>C ENST00000264010.4 + 10 2185 c.1741G>C c.(1741-1743)Gat>Cat p.D581H CTCF_ENST00000401394.1_Missense_Mutation_p.D253H NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 581 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TGCTGGCCCAGATGGCGTAGA 0.408000 7 57 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027623 37027623 + Silent SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chrX:37027623G>A ENST00000358047.3 + 1 1192 c.1140G>A c.(1138-1140)ccG>ccA p.P380P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 380 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATCTCTGCCCGGAACCTCCCA 0.617000 3 48 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10533478 10533478 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:10533478C>T ENST00000583535.1 - 38 5580 c.5493G>A c.(5491-5493)caG>caA p.Q1831Q MYH3_ENST00000226209.7_Silent_p.Q1831Q NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1831 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGTTCTTCTTCTGCTCTCCCT 0.552000 19 226 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90020690 90020690 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr16:90020690C>T ENST00000563594.1 + 3 1027 c.30C>T c.(28-30)ttC>ttT p.F10F DEF8_ENST00000563795.1_Silent_p.F10F|DEF8_ENST00000570182.1_Silent_p.F10F|DEF8_ENST00000268676.7_Silent_p.F71F|DEF8_ENST00000418391.2_Silent_p.F10F|DEF8_ENST00000569453.1_Silent_p.F10F|DEF8_ENST00000567874.1_Intron NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 71 intracellular signal transduction zinc ion binding p.F71F(1) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) TGGCCCGTTTCCGGCAGGCCC 0.642000 4 80 0 0 1 0 0 CCNJ 54619 broad.mit.edu 37 10 97817702 97817702 + Nonsense_Mutation SNP C C T rs149060787 TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:97817702C>T ENST00000265992.5 + 6 1190 c.823C>T c.(823-825)Cag>Tag p.Q275* ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000534974.1_Nonsense_Mutation_p.Q275*|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000465148.2_Nonsense_Mutation_p.Q286*|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000403870.3_Nonsense_Mutation_p.Q274*|ENTPD1-AS1_ENST00000458228.1_RNA NM_001134375.1|NM_001134376.1|NM_019084.4 NP_001127847.1|NP_001127848.1|NP_061957.2 Q5T5M9 CCNJ_HUMAN cyclin J 275 nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) AGTTCACTTTCAGCAACCTCA 0.502000 14 159 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78437190 78437190 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:78437190C>T ENST00000278550.7 - 23 3946 c.3484G>A c.(3484-3486)Gaa>Aaa p.E1162K NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GCGTCAATTTCATAGCCCTGC 0.443000 26 234 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178820385 178820385 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr1:178820385C>T ENST00000234816.2 - 6 1802 c.1355G>A c.(1354-1356)gGa>gAa p.G452E RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G452E NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 452 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 GTACCATACTCCATTTAGGTT 0.438000 6 76 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52238848 52238848 + Silent SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:52238848C>T ENST00000394965.2 + 6 1077 c.717C>T c.(715-717)ctC>ctT p.L239L ALAS1_ENST00000469224.1_Silent_p.L239L|ALAS1_ENST00000310271.2_Silent_p.L239L|ALAS1_ENST00000484952.1_Silent_p.L239L NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 239 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGACTCCCTCATCACCAAAA 0.473000 7 91 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1026001 1026001 + Splice_Site SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr11:1026001G>A ENST00000421673.2 - 21 2737 c.2688_splice c.e21+1 p.T896_splice NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 896 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATGGTTACCGTGGCCAGGAT 0.677000 2 2 0 0 1 0 0 BCL2L14 79370 broad.mit.edu 37 12 12240312 12240312 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr12:12240312C>G ENST00000266434.4 + 3 794 c.599C>G c.(598-600)tCt>tGt p.S200C BCL2L14_ENST00000396367.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000308721.5_Missense_Mutation_p.S200C|BCL2L14_ENST00000396369.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000586576.1_Missense_Mutation_p.S233C|BCL2L14_ENST00000589718.1_Missense_Mutation_p.S200C NM_030766.1 NP_110393.1 Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) 200 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) GCTTCAAGTTCTAAGAAAGGT 0.532000 5 57 0 0 1 0 0 KCNIP2 30819 broad.mit.edu 37 10 103587154 103587154 + Missense_Mutation SNP C C T TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr10:103587154C>T ENST00000358038.3 - 9 1066 c.715G>A c.(715-717)Gag>Aag p.E239K KCNIP2_ENST00000348850.5_Missense_Mutation_p.E212K|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E171K|KCNIP2_ENST00000353068.3_Missense_Mutation_p.E214K|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E272K|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000356640.2_Missense_Mutation_p.E257K|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E207K NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 257 EF-hand 4. N -> S (in Ref. 9; AAP57633). clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) ATGATGTTCTCATCCTGTGGC 0.527000 10 176 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74300217 74300217 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr9:74300217C>G ENST00000377044.4 - 24 4587 c.4048G>C c.(4048-4050)Gaa>Caa p.E1350Q TMEM2_ENST00000396272.3_Missense_Mutation_p.E343Q|TMEM2_ENST00000377066.5_Missense_Mutation_p.E1287Q NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1350 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ATGAATTGTTCAAGCACCCCA 0.458000 7 84 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4715019 4715019 + Missense_Mutation SNP G G A TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr3:4715019G>A ENST00000302640.8 + 20 2709 c.2359G>A c.(2359-2361)Gtg>Atg p.V787M ITPR1_ENST00000443694.2_Missense_Mutation_p.V787M|ITPR1_ENST00000423119.2_Missense_Mutation_p.V802M|ITPR1_ENST00000357086.4_Missense_Mutation_p.V802M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V787M|ITPR1_ENST00000354582.6_Missense_Mutation_p.V802M NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 802 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGTCACCCCCGTGAAATATGC 0.562000 12 124 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18150552 18150552 + Missense_Mutation SNP C C G TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:18150552C>G ENST00000327031.4 - 21 2832 c.2607G>C c.(2605-2607)aaG>aaC p.K869N FLII_ENST00000379450.4_Missense_Mutation_p.K783N|FLII_ENST00000579294.1_Missense_Mutation_p.K858N|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.K814N NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 869 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) TCTGGTCTTTCTTCTCGGCGT 0.667000 7 55 0 0 1 0 0 DNAJC25 548645 broad.mit.edu 37 9 114393996 114393996 + Frame_Shift_Del DEL G G - TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr9:114393996delG ENST00000313525.3 + 1 365 c.309delG c.(307-309)ctfs p.L103fs DNAJC25_ENST00000556107.1_Frame_Shift_Del_p.L103fs|DNAJC25-GNG10_ENST00000374294.3_Frame_Shift_Del_p.L103fs NM_001015882.2 NP_001015882.2 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 103 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 CTTTCCTGCTGGTGGCAACCG 0.741 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-DO-A2HM-01B-11D-A22D-08 TCGA-DO-A2HM-10B-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4db75b1-bd83-4158-a816-9d95c4ebdd8e 89bf52a8-dfde-48d5-96ee-d81e013d6ca1 g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 3 4 --- --- --- ---