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 RANGAP1 5905 broad.mit.edu 37 22 41650338 41650338 + Missense_Mutation SNP G G A rs139571477 byFrequency TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:41650338G>A ENST00000455915.2 - 10 2703 c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W RANGAP1_ENST00000356244.3_Missense_Mutation_p.R412W|RANGAP1_ENST00000407260.4_Missense_Mutation_p.R357W|RANGAP1_ENST00000405486.1_Missense_Mutation_p.R412W P46060 RAGP1_HUMAN Ran GTPase activating protein 1 412 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGAATCTTCCGTGAGGGCGTG 0.552000 63 252 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A rs121913495 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:57484421G>A ENST00000371100.4 + 8 3083 c.2531G>A c.(2530-2532)cGt>cAt p.R844H GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 201 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTTCGCTGCCGTGTCCTGACT 0.423000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 5 308 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118550780 118550780 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:118550780G>A ENST00000336338.5 - 31 4539 c.4474C>T c.(4474-4476)Cgg>Tgg p.R1492W NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1492 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTTCTACCCGCATACACTTC 0.493000 16 194 0 0 1 0 0 ASS1 445 broad.mit.edu 37 9 133364801 133364801 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:133364801G>A ENST00000372394.1 + 13 1401 c.920G>A c.(919-921)cGc>cAc p.R307H ASS1_ENST00000372393.3_Missense_Mutation_p.R307H|ASS1_ENST00000352480.5_Missense_Mutation_p.R307H P00966 ASSY_HUMAN argininosuccinate synthase 1 307 R -> C (in CTLN1). arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) CGGGAAGTGCGCAAAATCAAA 0.532000 6 909 0 0 1 0 0 IGHV3-21 0 broad.mit.edu 37 14 106691922 106691922 + RNA SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr14:106691922C>T ENST00000390607.2 - 0 180 TCAGGGACCCCCCAGGCTTGA 0.587000 10 749 0 0 1 0 0 ZNF227 7770 broad.mit.edu 37 19 44739673 44739673 + Missense_Mutation SNP A A T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:44739673A>T ENST00000313040.7 + 6 1295 c.1090A>T c.(1090-1092)Agt>Tgt p.S364C ZNF227_ENST00000391961.2_Missense_Mutation_p.S313C|ZNF227_ENST00000589005.1_Missense_Mutation_p.S313C NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) CTTTAGTCAAAGTTCAAATTT 0.423000 5 327 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67016614 67016614 + Missense_Mutation SNP C C T rs61740908 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:67016614C>T ENST00000340001.4 - 19 2726 c.2515G>A c.(2515-2517)Gtg>Atg p.V839M ABCA9_ENST00000453985.2_Missense_Mutation_p.V839M|ABCA9_ENST00000370732.2_Missense_Mutation_p.V839M NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 839 transport integral to membrane ATP binding|ATPase activity p.V839M(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CAGAGCGCCACGCCACTGATT 0.443000 10 545 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37783861 37783861 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr21:37783861C>T ENST00000314103.4 + 11 1171 c.1020C>T c.(1018-1020)taC>taT p.Y340Y NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 340 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 CTTTTGGTTACGTGTCTAATA 0.522000 6 761 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183855998 183855998 + Silent SNP T T C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:183855998T>C ENST00000273783.3 + 5 851 c.729T>C c.(727-729)gaT>gaC p.D243D EIF2B5_ENST00000444495.1_Silent_p.D243D NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 243 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TTCGATATGATTTACTGGATT 0.478000 20 439 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51400102 51400102 + Nonsense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:51400102C>T ENST00000266037.9 + 49 5313 c.5290C>T c.(5290-5292)Cga>Tga p.R1764* NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1764 Ser-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTCCAGTGCCCGAGGTAAGGA 0.562000 26 50 0 0 1 0 0 ACADL 33 broad.mit.edu 37 2 211070474 211070474 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:211070474G>A ENST00000233710.3 - 6 877 c.650C>T c.(649-651)gCg>gTg p.A217V AC006994.2_ENST00000412065.1_RNA NM_001608.3 NP_001599.1 P28330 ACADL_HUMAN acyl-CoA dehydrogenase, long chain 217 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) ATTTGTGACCGCAACTACAAT 0.398000 6 347 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44388109 44388109 + Splice_Site SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:44388109C>T ENST00000587539.1 - 1 7 c.9_splice c.e1+1 p.R3_splice ZNF404_ENST00000588094.1_5'UTR NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TCAACTCACCCGGGCCATGGT 0.388000 41 169 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154292538 154292538 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:154292538G>A ENST00000285873.7 - 14 1991 c.1916C>T c.(1915-1917)aCg>aTg p.T639M NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 639 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AATCTTGGCCGTATGCCCTGA 0.522000 5 315 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198267359 198267359 + Missense_Mutation SNP C C G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:198267359C>G ENST00000335508.5 - 14 2089 c.1998G>C c.(1996-1998)aaG>aaC p.K666N NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 666 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.K666N(19) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTGTACAATCTTAATACCAG 0.413000 Mis myelodysplastic syndrome 11 319 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26736580 26736580 + Missense_Mutation SNP T T C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:26736580T>C ENST00000529632.2 + 10 2390 c.2194T>C c.(2194-2196)Ttt>Ctt p.F732L SEZ6L_ENST00000248933.6_Missense_Mutation_p.F732L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.F732L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.F732L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.F505L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.F732L NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 732 CUB 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GGGCCAGGGATTTATCATGAA 0.458000 33 192 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 199 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61525110 61525110 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:61525110C>T ENST00000266070.4 - 12 3334 c.3009G>A c.(3007-3009)ttG>ttA p.L1003L DIDO1_ENST00000395335.2_Silent_p.L1003L|DIDO1_ENST00000395343.1_Silent_p.L1003L|DIDO1_ENST00000395340.1_Silent_p.L1003L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1003 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCACAGAAGTCAAGACAGGCT 0.567000 6 480 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34256356 34256356 + Missense_Mutation SNP C C G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:34256356C>G ENST00000379166.2 - 11 3368 c.3249G>C c.(3247-3249)gaG>gaC p.E1083D KIF24_ENST00000379174.3_Missense_Mutation_p.E949D|KIF24_ENST00000402558.2_Missense_Mutation_p.E1083D|KIF24_ENST00000345050.2_Missense_Mutation_p.E949D NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 1083 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CCCCTGTGCTCTCTGCCACTA 0.602000 13 194 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454068 114454068 + Missense_Mutation SNP T T G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:114454068T>G ENST00000369563.3 + 4 1300 c.854T>G c.(853-855)tTt>tGt p.F285C DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 285 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) CTTCGTGCCTTTGTCGCAGCA 0.567000 Other identified genes with known or suspected DNA repair function 64 297 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 286 0 0 1 0 0 USP44 84101 broad.mit.edu 37 12 95922666 95922666 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:95922666G>A ENST00000258499.3 - 3 1829 c.1541C>T c.(1540-1542)cCa>cTa p.P514L USP44_ENST00000393091.2_Missense_Mutation_p.P514L|USP44_ENST00000537435.2_Missense_Mutation_p.P514L|USP44_ENST00000552440.1_Intron NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 514 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 AACCAGACATGGCTGGGAAGC 0.393000 50 247 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 10 575 0 0 1 0 0 FDX1 2230 broad.mit.edu 37 11 110327723 110327723 + Missense_Mutation SNP C C A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:110327723C>A ENST00000260270.2 + 3 630 c.392C>A c.(391-393)aCt>aAt p.T131N NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 131 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) GATGCAATCACTGATGAGGAG 0.403000 12 689 0.010729 0.0107778 1 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 11 254 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242275 5242275 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:5242275G>A ENST00000274181.7 + 17 2771 c.2633G>A c.(2632-2634)cGc>cAc p.R878H NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 878 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCCATCGTGCGCTCTGAGTGC 0.642000 29 170 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48789674 48789674 + Missense_Mutation SNP A A C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:48789674A>C ENST00000595607.1 + 6 1287 c.793A>C c.(793-795)Atg>Ctg p.M265L ZNF114_ENST00000600687.1_Missense_Mutation_p.M265L|ZNF114_ENST00000315849.1_Missense_Mutation_p.M265L|ZNF114_ENST00000597695.1_Missense_Mutation_p.M231L Q8NC26 ZN114_HUMAN zinc finger protein 114 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) AATTCACGCCATGCAGATGCA 0.463000 12 383 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413623 178413623 + Silent SNP G G A rs139758482 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:178413623G>A ENST00000231188.5 - 8 1810 c.1632C>T c.(1630-1632)gaC>gaT p.D544D GRM6_ENST00000517717.1_Silent_p.D544D|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 544 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGCGGTACCCGTCACAGGCCT 0.682000 8 239 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119674244 119674244 + Missense_Mutation SNP A A C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chrX:119674244A>C ENST00000371322.5 - 11 1678 c.1617T>G c.(1615-1617)aaT>aaG p.N539K CUL4B_ENST00000404115.3_Missense_Mutation_p.N557K|CUL4B_ENST00000336592.6_Missense_Mutation_p.N544K NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 557 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CAGCTGGTTTATTTGGTCTTT 0.308000 44 87 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953983 161953983 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:161953983G>A ENST00000294794.3 - 8 2158 c.1735C>T c.(1735-1737)Cgc>Tgc p.R579C OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62C|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580C NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 579 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GTGAAGGCGCGATTGTAGTAG 0.597000 60 264 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48704920 48704920 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr15:48704920C>T ENST00000316623.5 - 65 8527 c.8072G>A c.(8071-8073)gGc>gAc p.G2691D FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2691 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCGGCCCATGCCCATTCCAGA 0.502000 6 713 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103022865 103022865 + Splice_Site SNP A A T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:103022865A>T ENST00000375735.2 + 21 3091 c.2946_splice c.e21-1 p.I983_splice DYNC2H1_ENST00000398093.3_Splice_Site_p.I983_splice|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 983 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TAACCTTTAGATTTTGCCCTT 0.269000 13 117 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 6 642 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 5 61 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122667627 122667627 + Missense_Mutation SNP A A G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:122667627A>G ENST00000284273.5 + 9 1618 c.1243A>G c.(1243-1245)Ata>Gta p.I415V NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 415 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AGGCCGCTACATACGCACCAA 0.473000 16 287 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9197372 9197372 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:9197372C>T ENST00000382496.5 - 10 1641 c.976G>A c.(976-978)Gcc>Acc p.A326T NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 326 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TGCGCGATGGCGCTCAGGTTG 0.597000 54 389 0 0 1 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840902 1840902 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:1840902C>T ENST00000331238.5 - 2 232 c.214G>A c.(214-216)Ggc>Agc p.G72S NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 72 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 CTGAAGTGGCCGGGCTGGAGG 0.637000 26 137 0 0 1 0 0 CATSPER2P1 0 broad.mit.edu 37 15 44028268 44028268 + RNA SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr15:44028268C>T ENST00000381680.2 - 0 1516 NR_002318.2 agccaccgcacccggccAATT 0.532000 74 258 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 26 179 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151271898 151271898 + Missense_Mutation SNP T T A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:151271898T>A ENST00000274576.4 - 2 450 c.158A>T c.(157-159)gAt>gTt p.D53V GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000455880.2_Missense_Mutation_p.D53V|GLRA1_ENST00000471351.2_5'UTR NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 53 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GATCCTGGCATCATATCCGGA 0.498000 14 367 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1256207 1256207 + Missense_Mutation SNP C C A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr16:1256207C>A ENST00000348261.5 + 12 2955 c.2707C>A c.(2707-2709)Cgc>Agc p.R903S CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903S NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 903 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGCCCTGCGGCGCCAGCTCGT 0.632000 9 39 1.58986e-06 1.64958e-06 1 1 0 SMYD4 114826 broad.mit.edu 37 17 1703597 1703597 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:1703597C>T ENST00000305513.7 - 5 1258 c.1091G>A c.(1090-1092)cGc>cAc p.R364H NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 364 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 TATGATTTTGCGAACATCCTC 0.453000 6 364 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 8 155 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 139 0 0 1 0 0 ZNF724P 0 broad.mit.edu 37 19 23414139 23414139 + Missense_Mutation SNP A A G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:23414139A>G ENST00000418100.1 - 3 272 c.155T>C c.(154-156)cTg>cCg p.L52P ZNF724P_ENST00000597037.1_Missense_Mutation_p.L52P endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 ACAGGTGATCAGGTCTGGCTT 0.403000 6 602 0 0 1 0 0 IGHA2 0 broad.mit.edu 37 14 106054658 106054658 + RNA SNP T T G rs114771275 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr14:106054658T>G ENST00000390539.2 - 0 74 GGACCAGGCATGCGACGACCA 0.622000 6 297 0 0 1 0 0 C16orf11 146325 broad.mit.edu 37 16 615296 615296 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr16:615296G>A ENST00000409413.3 + 3 1984 c.1705G>A c.(1705-1707)Gcc>Acc p.A569T NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 569 central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CCCCCAGGGCGCCGAGGTCTG 0.677000 11 37 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98205957 98205957 + Missense_Mutation SNP A A C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:98205957A>C ENST00000370192.3 - 4 412 c.312T>G c.(310-312)atT>atG p.I104M DPYD_ENST00000306031.5_Missense_Mutation_p.I104M|DPYD_ENST00000423006.2_Missense_Mutation_p.I67M NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 104 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CCTTGTTTGCAATACTTGTGA 0.343000 72 326 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21098813 21098813 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr10:21098813G>A ENST00000377122.4 - 25 2929 c.2533C>T c.(2533-2535)Cgc>Tgc p.R845C NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 845 Linker. regulation of actin filament length actin binding|structural constituent of muscle p.R845C(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGATCTGTGCGCCAAACTTTG 0.383000 67 219 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27324303 27324303 + Missense_Mutation SNP C C T rs113949888 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:27324303C>T ENST00000402394.1 - 6 1064 c.796G>A c.(796-798)Gaa>Aaa p.E266K CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 258 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCTCCTTCAGCCTCTGCC 0.687000 6 705 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277190 186277190 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:186277190G>A ENST00000445192.2 + 7 2384 c.2339G>A c.(2338-2340)gGg>gAg p.G780E PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 780 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCCTAAGGGGACTGCTCCA 0.607000 8 853 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 8 203 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119914985 119914985 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:119914985G>A ENST00000331113.4 + 1 1264 c.299G>A c.(298-300)cGc>cAc p.R100H NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 100 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) AATTTCTACCGCACTGGGAAG 0.522000 19 891 0 0 1 0 0 CYLD 1540 broad.mit.edu 37 16 50827516 50827516 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr16:50827516G>A ENST00000540145.1 + 17 2825 c.2410G>A c.(2410-2412)Gac>Aac p.D804N CYLD_ENST00000568704.2_Missense_Mutation_p.D619N|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.D801N|CYLD_ENST00000427738.3_Missense_Mutation_p.D804N|CYLD_ENST00000398568.2_Missense_Mutation_p.D801N|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.D804N|CYLD_ENST00000564326.1_Missense_Mutation_p.D801N|CYLD_ENST00000569418.1_Missense_Mutation_p.D801N Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 804 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) AGAATGCTACGACGATCCGGA 0.438000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 14 618 0 0 1 0 0 ETF1 2107 broad.mit.edu 37 5 137844426 137844426 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:137844426G>A ENST00000499810.2 - 10 1512 c.1064C>T c.(1063-1065)aCg>aTg p.T355M ETF1_ENST00000360541.5_Missense_Mutation_p.T388M|ETF1_ENST00000503014.1_Missense_Mutation_p.T374M P62495 ERF1_HUMAN eukaryotic translation termination factor 1 388 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AATTTCCAACGTAGCTCCAAA 0.413000 6 878 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70757810 70757810 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chrX:70757810G>A ENST00000373719.3 + 3 567 c.350G>A c.(349-351)cGt>cAt p.R117H OGT_ENST00000373701.3_Missense_Mutation_p.R107H|OGT_ENST00000498566.1_3'UTR NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 117 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity p.R117H(1)|p.R107H(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) CATGCATTGCGTCTCAAACCT 0.493000 75 106 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255590 85255590 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:85255590C>T ENST00000266682.5 - 12 2555 c.2014G>A c.(2014-2016)Gat>Aat p.D672N SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Missense_Mutation_p.D565N NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 672 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 CTTGTATCATCGCCCTCTAAG 0.423000 124 507 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121740416 121740416 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:121740416C>T ENST00000452319.1 + 11 1703 c.1643C>T c.(1642-1644)tCg>tTg p.S548L GLI2_ENST00000314490.11_Missense_Mutation_p.S220L|GLI2_ENST00000361492.4_Missense_Mutation_p.S548L|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 548 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TCCAACGCCTCGGACCGCGCC 0.637000 50 281 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596894 39596894 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:39596894C>T ENST00000246646.3 - 1 279 c.280G>A c.(280-282)Gcc>Acc p.A94T NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 94 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) TCACCATAGGCCCCACAGATT 0.602000 69 312 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149513539 149513539 + RNA SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:149513539G>A ENST00000378016.2 + 0 11160 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCACGTCACGCAGCAGGTGG 0.692000 8 44 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5475027 5475027 + Silent SNP T T A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:5475027T>A ENST00000341449.2 + 1 390 c.309T>A c.(307-309)ctT>ctA p.L103L HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATGTTTCTTATTCACTTCT 0.483000 92 431 0 0 1 0 0 TMEM116 89894 broad.mit.edu 37 12 112374530 112374530 + Missense_Mutation SNP A A T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:112374530A>T ENST00000354825.3 - 10 933 c.278T>A c.(277-279)cTg>cAg p.L93Q TMEM116_ENST00000355445.3_Missense_Mutation_p.L150Q|TMEM116_ENST00000437003.2_Missense_Mutation_p.L93Q|TMEM116_ENST00000552374.2_Missense_Mutation_p.L185Q|TMEM116_ENST00000549537.2_Intron|TMEM116_ENST00000550831.3_Missense_Mutation_p.L93Q Q8NCL8 TM116_HUMAN transmembrane protein 116 93 integral to membrane endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1) 8 AAAGCTGCCCAGGAAAATGGC 0.478000 52 227 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5475025 5475025 + Missense_Mutation SNP C C A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:5475025C>A ENST00000341449.2 + 1 388 c.307C>A c.(307-309)Ctt>Att p.L103I HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAGATGTTTCTTATTCACTT 0.483000 95 425 1.40862e-40 1.53352e-40 1 1 0 SARS2 54938 broad.mit.edu 37 19 39421234 39421234 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:39421234G>A ENST00000221431.6 - 1 302 c.143C>T c.(142-144)gCg>gTg p.A48V SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 48 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCCCTCGCGCGCATACTCGTA 0.627000 OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 589 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149542414 149542414 + Missense_Mutation SNP A A G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:149542414A>G ENST00000258484.6 + 13 2229 c.2195A>G c.(2194-2196)cAc>cGc p.H732R NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 732 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) AATGCAGTGCACCTCAATAAT 0.473000 23 187 0 0 1 0 0 RPL28 6158 broad.mit.edu 37 19 55899358 55899358 + Missense_Mutation SNP C C T rs150642428 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:55899358C>T ENST00000344063.2 + 4 895 c.266C>T c.(265-267)aCg>aTg p.T89M RPL28_ENST00000558815.1_Missense_Mutation_p.T89M|RPL28_ENST00000559463.1_Missense_Mutation_p.T89M|RPL28_ENST00000458349.2_Missense_Mutation_p.T89M|RPL28_ENST00000560055.1_Missense_Mutation_p.T89M|RPL28_ENST00000558131.1_Missense_Mutation_p.R83C|RPL28_ENST00000560583.1_Missense_Mutation_p.T89M P46779 RL28_HUMAN ribosomal protein L28 89 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) GCTCGCGCCACGCTCAGCAGC 0.622000 17 379 0 0 1 0 0 GBX1 2636 broad.mit.edu 37 7 150845978 150845978 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:150845978G>A ENST00000297537.4 - 2 789 c.790C>T c.(790-792)Cgc>Tgc p.R264C NM_001098834.1 NP_001092304.1 Q14549 GBX1_HUMAN gastrulation brain homeobox 1 264 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(5)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGTGCGGCGCCGTCGGCTT 0.582000 23 502 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 133 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 10 252 0 0 1 0 0 HNRNPLL 92906 broad.mit.edu 37 2 38812916 38812916 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:38812916G>A ENST00000449105.2 - 3 755 c.416C>T c.(415-417)gCt>gTt p.A139V HNRNPLL_ENST00000409328.1_Missense_Mutation_p.A139V|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.A134V|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.A139V|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.A139V NM_138394.3 NP_612403.2 heterogeneous nuclear ribonucleoprotein L-like CTGTTGACCAGCAATGTACAC 0.418000 22 660 0 0 1 0 0 TBC1D23 55773 broad.mit.edu 37 3 100016873 100016873 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:100016873C>T ENST00000394144.4 + 9 990 c.983C>T c.(982-984)gCg>gTg p.A328V TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.A191V|TBC1D23_ENST00000344949.5_Missense_Mutation_p.A328V NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 328 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 ATCCTTCAAGCGAATCAGCTA 0.443000 8 181 0 0 1 0 0 CHD6 0 broad.mit.edu 37 20 40085993 40085993 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:40085993C>T ENST00000373233.3 - 18 2917 c.2740G>A c.(2740-2742)Gag>Aag p.E914K CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 914 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) ATCTCGCGCTCGTAGGAATTT 0.542000 57 230 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112176765 112176765 + Missense_Mutation SNP A A G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:112176765A>G ENST00000457016.1 + 16 5854 c.5474A>G c.(5473-5475)gAt>gGt p.D1825G APC_ENST00000257430.4_Missense_Mutation_p.D1825G|APC_ENST00000508376.2_Missense_Mutation_p.D1825G|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1825 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GTCTTCAATGATAAGCTCCCA 0.333000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 49 203 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905125 55905125 + Missense_Mutation SNP G G T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:55905125G>T ENST00000301529.1 - 1 69 c.70C>A c.(70-72)Cag>Aag p.Q24K NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AGGGGAATCTGGAGCTCTGGA 0.488000 110 437 8.98033e-41 9.82502e-41 1 1 0 KLHL40 131377 broad.mit.edu 37 3 42727555 42727555 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:42727555G>A ENST00000287777.4 + 1 545 c.445G>A c.(445-447)Gcc>Acc p.A149T NM_152393.2 NP_689606.2 kelch-like family member 40 CGCGCGTCTCGCCGTGGCTGC 0.647000 134 174 0 0 1 0 0 SV2A 0 broad.mit.edu 37 1 149877463 149877463 + Missense_Mutation SNP A A C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:149877463A>C ENST00000369146.3 - 12 2504 c.2014T>G c.(2014-2016)Ttg>Gtg p.L672V SV2A_ENST00000369145.1_Missense_Mutation_p.L672V NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 672 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TCAACAGTCAACACGTCCAGC 0.557000 11 877 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 123005948 123005948 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:123005948C>T ENST00000331738.7 - 3 336 c.191G>A c.(190-192)cGg>cAg p.R64Q RSRC2_ENST00000354654.2_Missense_Mutation_p.G9R NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 64 Ser-rich. breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) GCTTCTGCTCCGGCTCCTGTG 0.308000 4 253 0 0 1 0 0 OPRD1 4985 broad.mit.edu 37 1 29189523 29189523 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:29189523G>A ENST00000234961.2 + 3 1089 c.847G>A c.(847-849)Gtc>Atc p.V283I NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 283 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CTTCGTCATCGTCTGGACGCT 0.662000 4 66 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461676 11461676 + Nonsense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:11461676G>A ENST00000279575.1 - 3 274 c.241C>T c.(241-243)Cga>Tga p.R81* PRB4_ENST00000535904.1_Nonsense_Mutation_p.R81*|PRB4_ENST00000445719.2_Nonsense_Mutation_p.R81* NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 81 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in Ref. 7; CAA30542). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TGTGGGGGTCGTCCTTCTGGC 0.617000 HNSCC(22;0.051) 8 1375 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 9 706 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160087288 160087288 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:160087288C>T ENST00000263635.6 + 27 5588 c.5351C>T c.(5350-5352)aCc>aTc p.T1784I TANC1_ENST00000454300.1_Missense_Mutation_p.T1678I NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1784 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CAAGCCAAAACCTGTTCTGTT 0.498000 40 138 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14006194 14006194 + Missense_Mutation SNP G G A rs145142690 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:14006194G>A ENST00000454313.1 - 3 255 c.197C>T c.(196-198)gCc>gTc p.A66V C19orf57_ENST00000586783.1_Missense_Mutation_p.A66V|C19orf57_ENST00000346736.2_Missense_Mutation_p.A66V|C19orf57_ENST00000591586.1_Missense_Mutation_p.A66V Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 66 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCTGGAGACGGCCTTTCCTGG 0.562000 76 404 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248817 20248817 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr14:20248817G>A ENST00000315957.4 + 1 417 c.336G>A c.(334-336)atG>atA p.M112I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTCGGAGATGTTCTTGCTCA 0.478000 129 1889 0 0 1 0 0 BMX 660 broad.mit.edu 37 X 15526493 15526493 + Missense_Mutation SNP T T C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chrX:15526493T>C ENST00000357607.2 + 2 205 c.17T>C c.(16-18)aTt>aCt p.I6T BMX_ENST00000463891.1_Intron|BMX_ENST00000342014.6_Missense_Mutation_p.I6T|BMX_ENST00000348343.6_Missense_Mutation_p.I6T P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 6 PH. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) ACAAAATCTATTCTAGAAGAA 0.294000 6 236 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4544868 4544868 + Missense_Mutation SNP C C G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:4544868C>G ENST00000570836.1 - 2 175 c.79G>C c.(79-81)Gtc>Ctc p.V27L ALOX15_ENST00000293761.3_Missense_Mutation_p.V27L|ALOX15_ENST00000545513.1_Missense_Mutation_p.V49L|ALOX15_ENST00000574640.1_Missense_Mutation_p.V27L P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 27 PLAT. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) TGCTGGCCGACCAGCCACAGC 0.687000 36 152 0 0 1 0 0 RNF207 388591 broad.mit.edu 37 1 6279452 6279452 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:6279452G>A ENST00000377939.4 + 18 2017 c.1890G>A c.(1888-1890)agG>agA p.R630R RNF207_ENST00000377948.2_3'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 630 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CCACATGGAGGGAACACCCGA 0.532000 29 98 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38564781 38564781 + Missense_Mutation SNP G G C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:38564781G>C ENST00000423485.1 - 11 1463 c.1305C>G c.(1303-1305)atC>atG p.I435M NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 435 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GAATTCCCTTGATTCTATTAT 0.338000 9 249 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 22 49 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:43836817A>G ENST00000372781.3 + 2 936 c.879A>G c.(877-879)acA>acG p.T293T SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I p.T293T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383000 7 303 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 5 190 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68699089 68699089 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr4:68699089G>A ENST00000283916.6 - 7 623 c.525C>T c.(523-525)gcC>gcT p.A175A TMPRSS11D_ENST00000545541.1_Silent_p.A58A|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 175 proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGTCTGGACCGGCCCCACATT 0.463000 22 694 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21208417 21208417 + Missense_Mutation SNP G G A rs150613942 byFrequency TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:21208417G>A ENST00000342679.4 + 9 1000 c.751G>A c.(751-753)Gtc>Atc p.V251I MAP2K3_ENST00000361818.5_Missense_Mutation_p.V222I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.V222I NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 251 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V255I(1) COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CAAGTCCGACGTCTGGAGCCT 0.637000 21 539 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 237 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41559185 41559185 + Splice_Site SNP C C A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr21:41559185C>A ENST00000400454.1 - 14 3129 c.2650_splice c.e14-1 p.E884_splice NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 884 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGTCTGGGGGCTCTGTGCCAT 0.483000 4 129 3.59834e-05 3.69875e-05 1 1 0 MYH13 8735 broad.mit.edu 37 17 10248866 10248866 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:10248866C>T ENST00000418404.3 - 13 1494 c.1331G>A c.(1330-1332)cGc>cAc p.R444H MYH13_ENST00000570743.1_Missense_Mutation_p.R444H|MYH13_ENST00000252172.4_Missense_Mutation_p.R444H Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 444 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTGGTTGATGCGGGTGACCAT 0.522000 6 723 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651648 121651648 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:121651648G>A ENST00000393386.2 + 12 2959 c.2548G>A c.(2548-2550)Gag>Aag p.E850K PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 850 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.E850K(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TTCAGCTACCGAGAGTGATAA 0.478000 5 480 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37653909 37653909 + Missense_Mutation SNP C C G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:37653909C>G ENST00000252011.3 + 18 1741 c.1708C>G c.(1708-1710)Ctg>Gtg p.L570V DHX35_ENST00000373325.2_Missense_Mutation_p.L570V|DHX35_ENST00000373323.4_Missense_Mutation_p.L539V NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 570 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) GGAACATTTCCTGAATTACAA 0.418000 183 781 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75622617 75622617 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:75622617G>A ENST00000294638.5 + 9 1514 c.850G>A c.(850-852)Gtc>Atc p.V284I LHX8_ENST00000356261.3_Missense_Mutation_p.V274I NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 284 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CAAGAAACACGTCAGTCCTAA 0.502000 23 707 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46979145 46979145 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr4:46979145C>T ENST00000264318.3 - 5 1492 c.510G>A c.(508-510)gcG>gcA p.A170A NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 170 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGGGACACTCCGCACTTATGG 0.343000 33 183 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112605307 112605307 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:112605307G>A ENST00000550722.1 - 72 12305 c.11910C>T c.(11908-11910)taC>taT p.Y3970Y HECTD4_ENST00000377560.5_Silent_p.Y3944Y|HECTD4_ENST00000430131.2_Silent_p.Y3694Y NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCTCCTCCCCGTAGGTGATGG 0.647000 4 159 0 0 1 0 0 DNPEP 23549 broad.mit.edu 37 2 220239025 220239025 + Missense_Mutation SNP A A C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:220239025A>C ENST00000273075.4 - 15 1667 c.1447T>G c.(1447-1449)Tta>Gta p.L483V DNPEP_ENST00000373972.1_Missense_Mutation_p.L408V|DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Missense_Mutation_p.L491V NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 473 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) CAATCCACTAAGAGATTATGG 0.473000 50 256 0 0 1 0 0 WDR37 22884 broad.mit.edu 37 10 1149626 1149626 + Missense_Mutation SNP C C A rs150728900 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr10:1149626C>A ENST00000358220.1 + 10 955 c.811C>A c.(811-813)Cgc>Agc p.R271S WDR37_ENST00000263150.4_Missense_Mutation_p.R271S Q9Y2I8 WDR37_HUMAN WD repeat domain 37 271 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) CCCCACCATCCGCGTCCCACT 0.622000 52 241 1.27102e-15 1.36357e-15 1 1 0 ANPEP 290 broad.mit.edu 37 15 90334315 90334315 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr15:90334315G>A ENST00000300060.6 - 19 2851 c.2538C>T c.(2536-2538)agC>agT p.S846S NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 846 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCAGGGTGTAGCTCAGGTACC 0.532000 13 363 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40578077 40578077 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr21:40578077G>A ENST00000342449.3 - 37 4399 c.4321C>T c.(4321-4323)Cgg>Tgg p.R1441W BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441W|BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441W NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1441 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CAATTTTGCCGTTGCTTGAAC 0.328000 141 659 0 0 1 0 0 CES3 23491 broad.mit.edu 37 16 67006841 67006841 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr16:67006841C>T ENST00000303334.4 + 13 1676 c.1605C>T c.(1603-1605)gcC>gcT p.A535A CES3_ENST00000543856.1_Silent_p.A174A|CES3_ENST00000394037.1_Silent_p.A532A NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 535 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) TGCCACGGGCCGGACAGAAGT 0.582000 18 366 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47266683 47266683 + Missense_Mutation SNP G G T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr13:47266683G>T ENST00000311191.6 + 8 1256 c.1027G>T c.(1027-1029)Gac>Tac p.D343Y LRCH1_ENST00000389798.3_Missense_Mutation_p.D343Y|LRCH1_ENST00000389797.3_Missense_Mutation_p.D343Y NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 343 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TTCTGACGAAGACACTGTTAG 0.418000 113 468 2.91849e-64 3.22494e-64 1 1 0 TGFBR2 7048 broad.mit.edu 37 3 30732957 30732957 + Missense_Mutation SNP G G T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:30732957G>T ENST00000295754.5 + 7 1952 c.1570G>T c.(1570-1572)Gac>Tac p.D524Y TGFBR2_ENST00000359013.4_Missense_Mutation_p.D549Y NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 524 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.D524N(1)|p.D524Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CTGGGACCACGACCCAGAGGC 0.607000 105 171 1.43872e-54 1.58188e-54 1 1 0 ABCA4 24 broad.mit.edu 37 1 94497517 94497517 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:94497517C>T ENST00000370225.3 - 27 4031 c.3945G>A c.(3943-3945)caG>caA p.Q1315Q NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1315 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CATTGGAGTCCTGGGGTGTCT 0.632000 19 383 0 0 1 0 0 DAW1 164781 broad.mit.edu 37 2 228762908 228762908 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:228762908G>A ENST00000373666.2 + 6 1087 c.451G>A c.(451-453)Gcc>Acc p.A151T DAW1_ENST00000309931.2_Missense_Mutation_p.A151T|DAW1_ENST00000545118.1_Missense_Mutation_p.A136T dynein assembly factor with WDR repeat domains 1 TGACAAAATCGCCACTGGGTC 0.303000 48 269 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 9 568 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 5 448 0 0 1 0 0 PARVA 55742 broad.mit.edu 37 11 12534985 12534985 + Missense_Mutation SNP G G T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:12534985G>T ENST00000538608.1 + 9 853 c.717G>T c.(715-717)ttG>ttT p.L239F PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000334956.8_Intron Q9NVD7 PARVA_HUMAN parvin, alpha 187 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) CCTGCAGCTTGCGAGCTTCCT 0.542000 11 200 0.010729 0.0107778 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 9 576 0 0 1 0 0 NT5C2 22978 broad.mit.edu 37 10 104934648 104934648 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr10:104934648G>A ENST00000343289.5 - 2 155 c.68C>T c.(67-69)gCc>gTc p.A23V NT5C2_ENST00000404739.3_Missense_Mutation_p.A23V|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Missense_Mutation_p.A23V NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 23 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) CTTTTTCAGGGCATGCTTATC 0.378000 7 804 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661206 22661206 + RNA SNP T T C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:22661206T>C ENST00000426066.1 + 0 298 NR_027293.1 AGCTGAATCATGCAGAATTTG 0.408000 6 210 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7023334 7023334 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr18:7023334C>T ENST00000389658.3 - 19 2623 c.2530G>A c.(2530-2532)Gaa>Aaa p.E844K NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 844 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACAAGATTCGCCAGGCACT 0.532000 49 170 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 12 145 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170029 20170029 + RNA SNP C C T rs144252881 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr15:20170029C>T ENST00000338912.5 - 0 242 CCTGGAACTTCTGTGCATAGC 0.547000 7 638 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7401414 7401414 + Missense_Mutation SNP G G A rs141769858 byFrequency TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:7401414G>A ENST00000322644.6 + 8 1619 c.1220G>A c.(1219-1221)cGc>cAc p.R407H POLR2A_ENST00000572844.1_Missense_Mutation_p.R407H NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 407 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GAACTAGTGCGCAGGGGGAAC 0.517000 5 339 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 7 636 0 0 1 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77334298 77334298 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:77334298G>A ENST00000477717.1 + 2 367 c.132G>A c.(130-132)caG>caA p.Q44Q ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 44 Poly-Gln. protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 agcagcagcagcaacagcagc 0.711000 4 120 0 0 1 0 0 DNAJC4 3338 broad.mit.edu 37 11 63999972 63999972 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:63999972G>A ENST00000321685.3 + 4 716 c.251G>A c.(250-252)cGt>cAt p.R84H DNAJC4_ENST00000321460.5_Missense_Mutation_p.R84H|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Intron NM_005528.3 NP_005519.2 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 84 J. protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding endometrium(1)|lung(1)|prostate(1) 3 GAGGCATACCGTGTGCTCAGC 0.632000 7 179 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178762794 178762794 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:178762794G>A ENST00000286063.5 - 4 1610 c.1293C>T c.(1291-1293)atC>atT p.I431I PDE11A_ENST00000449286.2_Silent_p.I73I|PDE11A_ENST00000409504.1_Silent_p.I73I|PDE11A_ENST00000358450.4_Silent_p.I181I|PDE11A_ENST00000497003.1_5'UTR NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 431 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.I431I(2)|p.I181I(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTGGTGATTCGATGTCCTCTA 0.348000 Primary Pigmented Nodular Adrenocortical Disease, Familial 92 337 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6185257 6185257 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:6185257C>T ENST00000306177.5 + 10 1259 c.1101C>T c.(1099-1101)tgC>tgT p.C367C NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 367 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) GTTTTAATTGCCATGCTGGCC 0.423000 4 154 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94493239 94493239 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:94493239G>A ENST00000375708.3 - 7 1334 c.1136C>T c.(1135-1137)aCg>aTg p.T379M ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.T239M NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 379 Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TTTATTCTGCGTAAAGCACCA 0.527000 6 464 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 197 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 10 257 0 0 1 0 0 AC005562.1 0 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:28961033T>G ENST00000417404.1 + 0 1291 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA AGTTCCAGGATATGACTATAA 0.264000 5 196 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113711435 113711435 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:113711435G>A ENST00000550785.1 + 11 1289 c.1120G>A c.(1120-1122)Gtg>Atg p.V374M TPCN1_ENST00000335509.6_Missense_Mutation_p.V302M|TPCN1_ENST00000392569.4_Missense_Mutation_p.V234M|TPCN1_ENST00000541517.1_Missense_Mutation_p.V374M NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 302 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 CTTCTTCATCGTGTACCTCTC 0.557000 116 606 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 8 110 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282031 152282031 + Silent SNP G G A rs145158439 byFrequency TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:152282031G>A ENST00000368799.1 - 3 5366 c.5331C>T c.(5329-5331)tcC>tcT p.S1777S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1777 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCATGGGCGGACTCAGACT 0.607000 Ichthyosis 9 1175 0 0 1 0 0 IGHV1-58 0 broad.mit.edu 37 14 107078513 107078513 + RNA SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr14:107078513C>T ENST00000390628.2 - 0 271 CTGCCAACGACGATCCATCCT 0.527000 88 329 0 0 1 0 0 S100A8 6279 broad.mit.edu 37 1 153362970 153362970 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:153362970G>A ENST00000368733.3 - 2 211 c.42C>T c.(40-42)gaC>gaT p.D14D S100A8_ENST00000368732.1_Silent_p.D14D|S100A8_ENST00000477801.1_5'UTR NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 14 EF-hand 1. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGTGGTAGACGTCGATGATAG 0.507000 11 899 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33464075 33464075 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:33464075C>T ENST00000379471.2 - 22 2951 c.2864G>A c.(2863-2865)cGc>cAc p.R955H NOL6_ENST00000455041.2_Missense_Mutation_p.R903H|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 955 rRNA processing condensed nuclear chromosome|nucleolus RNA binding p.R955H(1) endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGAGTTTTTGCGGTCTTGGGG 0.567000 6 567 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149092 52149092 + Missense_Mutation SNP C C T rs111981406 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:52149092C>T ENST00000360844.6 - 3 684 c.643G>A c.(643-645)Gtg>Atg p.V215M SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 215 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.V215M(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TGGCGTTTCACCTGACAGGTG 0.647000 5 239 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175041 207175041 + Missense_Mutation SNP A A G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:207175041A>G ENST00000374423.3 + 5 6175 c.5789A>G c.(5788-5790)aAg>aGg p.K1930R NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1930 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CCTAAGCAAAAGGGGCGTGTG 0.428000 4 336 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227659834 227659834 + Silent SNP A A G rs71889337 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:227659834A>G ENST00000305123.4 - 1 4641 c.3621T>C c.(3619-3621)ccT>ccC p.P1207P IRS1_ENST00000498335.1_5'UTR NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1207 Pro-rich. 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) GGGGTTGATGAGGGGGTGGGG 0.582000 8 184 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34286109 34286109 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:34286109C>T ENST00000373381.4 - 8 1336 c.1160G>A c.(1159-1161)gGc>gAc p.G387D NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 347 Sushi 2. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTCGGGTATGCCAGGGTCTGG 0.448000 7 838 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33517490 33517490 + Missense_Mutation SNP G G T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:33517490G>T ENST00000254260.3 - 3 269 c.234C>A c.(232-234)agC>agA p.S78R RHPN2_ENST00000400226.4_5'UTR NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 78 signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) AGTTGACGAAGCTCAGCTCCA 0.562000 9 837 6.72482e-11 7.14513e-11 1 1 0 ELF3 1999 broad.mit.edu 37 1 201981145 201981145 + Nonsense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:201981145G>A ENST00000359651.3 + 2 3416 c.224G>A c.(223-225)tGg>tAg p.W75* ELF3_ENST00000367283.3_Nonsense_Mutation_p.W75*|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W75*|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 75 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GTTCTGGACTGGATCAGCTAC 0.577000 121 612 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70535555 70535555 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr13:70535555G>A ENST00000377844.4 - 3 1461 c.702C>T c.(700-702)tcC>tcT p.S234S KLHL1_ENST00000545028.1_Silent_p.S41S NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 234 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.S234S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CAAAATAGTCGGAGACTGAAC 0.453000 29 202 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111970268 111970268 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:111970268G>A ENST00000374566.3 - 18 2331 c.1814C>T c.(1813-1815)gCg>gTg p.A605V NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 605 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACATGATCCGCAACAGGGGA 0.423000 5 533 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77705082 77705082 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:77705082G>A ENST00000328313.5 + 1 402 c.181G>A c.(181-183)Ggg>Agg p.G61R NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 61 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCCCGAGACGGGGTGAAGGC 0.647000 4 126 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95515048 95515048 + RNA SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:95515048C>T ENST00000432432.2 - 0 609 NR_040113.1 TGGGGTATTACTGTCCTACAA 0.323000 6 835 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140230003 140230003 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:140230003C>T ENST00000378122.3 + 1 2647 c.1923C>T c.(1921-1923)gaC>gaT p.D641D PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D641D|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGAAACGGACGCACCGCGCC 0.682000 53 320 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 5 425 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27533278 27533278 + Missense_Mutation SNP G G A rs149871988 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:27533278G>A ENST00000544915.1 + 4 542 c.323G>A c.(322-324)cGt>cAt p.R108H ARNTL2_ENST00000261178.5_Missense_Mutation_p.R94H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R57H|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R105H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R128H|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R142H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R105H NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 142 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) CCCATGGCGCGTAAACTGGAC 0.418000 5 444 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122659916 122659916 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:122659916G>A ENST00000284273.5 + 6 1255 c.880G>A c.(880-882)Ggt>Agt p.G294S NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 294 SH3. cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CACCAGCGAGGGTTGGATCTA 0.532000 192 816 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107084691 107084691 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:107084691G>A ENST00000409886.3 - 1 141 c.54C>T c.(52-54)tcC>tcT p.S18S RGPD3_ENST00000304514.7_Silent_p.S18S NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 18 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCGACGGGGCGGAGCCCTGCA 0.721000 5 70 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 7 221 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1256208 1256208 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr16:1256208G>A ENST00000348261.5 + 12 2956 c.2708G>A c.(2707-2709)cGc>cAc p.R903H CACNA1H_ENST00000358590.4_Missense_Mutation_p.R903H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R903H NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 903 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCCCTGCGGCGCCAGCTCGTG 0.632000 9 38 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50538027 50538027 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:50538027C>T ENST00000262794.5 + 3 521 c.438C>T c.(436-438)tgC>tgT p.C146C MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.C146C|MOV10L1_ENST00000545383.1_Silent_p.C146C|MOV10L1_ENST00000540615.1_Silent_p.C126C|MOV10L1_ENST00000475190.1_3'UTR NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 146 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGAGTGTGTGCGAAGGTATGC 0.512000 47 229 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140229874 140229874 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:140229874C>T ENST00000378122.3 + 1 2518 c.1794C>T c.(1792-1794)gaC>gaT p.D598D PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.D598D|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCAGTGGACGCCGACTCGG 0.672000 76 311 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 184 0 0 1 0 0 NOC4L 79050 broad.mit.edu 37 12 132635870 132635870 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:132635870C>T ENST00000330579.1 + 11 1071 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C NOC4L_ENST00000538784.1_5'UTR|NOC4L_ENST00000535343.1_3'UTR NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 344 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) CGTCAAGTACCGCGCCCGCTT 0.652000 99 483 0 0 1 0 0 T 6862 broad.mit.edu 37 6 166574388 166574388 + Missense_Mutation SNP C C A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr6:166574388C>A ENST00000296946.2 - 8 1439 c.971G>T c.(970-972)gGa>gTa p.G324V T_ENST00000366871.3_Missense_Mutation_p.G266V NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 324 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GGCAGGCATTCCAAGGCTGGA 0.522000 Chordoma, Familial Clustering of 9 312 1.76689e-08 1.85945e-08 1 1 0 DIO3 1735 broad.mit.edu 37 14 102028329 102028329 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr14:102028329G>A ENST00000510508.4 + 1 642 c.496G>A c.(496-498)Ggc>Agc p.G166S DIO3_ENST00000359323.3_Missense_Mutation_p.G140S P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 140 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) TCTCAATTTCGGCAGCTGCAC 0.627000 13 237 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 66878827 66878827 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr13:66878827G>A ENST00000544246.1 - 5 4365 c.3674C>T c.(3673-3675)gCa>gTa p.A1225V PCDH9_ENST00000377865.2_Missense_Mutation_p.A1225V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A1191V|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.A1191V NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1225 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A1225E(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AGCACCTCCTGCTTGCTTATA 0.438000 59 220 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 236617 236617 + Silent SNP G G T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:236617G>T ENST00000264932.6 + 10 1450 c.1335G>T c.(1333-1335)tcG>tcT p.S445S SDHA_ENST00000510361.1_Silent_p.S397S|SDHA_ENST00000504309.1_Silent_p.S445S NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 445 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity p.S445S(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCTGTGCCTCGGTACATGGTG 0.597000 Familial Paragangliomas 5 350 1.23904e-05 1.27957e-05 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 7 314 0 0 1 0 0 DHX58 79132 broad.mit.edu 37 17 40263826 40263826 + Missense_Mutation SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:40263826C>T ENST00000251642.3 - 3 307 c.85G>A c.(85-87)Ggg>Agg p.G29R NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 29 Helicase ATP-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CGGGTCTTCCCGGCACCCGTG 0.592000 6 477 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382863 152382863 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:152382863G>A ENST00000271835.3 - 3 757 c.695C>T c.(694-696)aCt>aTt p.T232I RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 232 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGGTCTGAGTTCCAGATCC 0.572000 186 812 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197544071 197544071 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:197544071G>A ENST00000438796.2 + 3 476 c.432G>A c.(430-432)ccG>ccA p.P144P LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000425562.2_Silent_p.P144P|LRCH3_ENST00000414675.2_Silent_p.P144P|LRCH3_ENST00000334859.4_Silent_p.P144P Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 144 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) CAACATTGCCGGTACACTTGT 0.378000 5 512 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38327854 38327854 + Missense_Mutation SNP T T C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:38327854T>C ENST00000215957.6 + 10 2056 c.1930T>C c.(1930-1932)Tcc>Ccc p.S644P MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 644 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) ACCTGCAGCGTCCCCAGCCAC 0.582000 8 459 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 13 532 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 22 35 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 10 1077 --- --- --- --- CCDC181 57821 broad.mit.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:169366580delT ENST00000545005.1 - 6 1769 c.1262delA c.(1261-1263)agfs p.K421fs CCDC181_ENST00000367805.3_Frame_Shift_Del_p.K421fs|CCDC181_ENST00000367806.3_Frame_Shift_Del_p.K422fs coiled-coil domain containing 181 CTCTTCGTGCTTTTTTTTAAG 0.363 8 263 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 19 441 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969493 237969494 + Frame_Shift_Ins INS - - T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr1:237969493_237969494insT ENST00000366574.2 + 99 14525_14526 c.14208_14209insT c.(14206-14211)aattttfs p.NF4736fs RYR2_ENST00000360064.6_Frame_Shift_Ins_p.NF4742fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.NF4720fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4736 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACTATAACAACTTTTTTTTTGC 0.401 7 227 --- --- --- --- PLEK 5341 broad.mit.edu 37 2 68622834 68622834 + Frame_Shift_Del DEL C C - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:68622834delC ENST00000234313.7 + 9 1118 c.939delC c.(937-939)aafs p.N313fs NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 313 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AGGAAGAGAACCTTTTTGAGA 0.542 108 515 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 12 283 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 13 171 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 214012392 214012393 + Frame_Shift_Del DEL AC AC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:214012392_214012393delAC ENST00000442445.1 - 3 253_254 c.196_197delGT c.(196-198)cfs p.V66fs IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000374327.4_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TGCTGGAGAGACACACACACAC 0.401 9 328 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. 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) TGCAGCAAGGgctgctgctgctg 0.626 10 298 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 9 397 --- --- --- --- KAT2B 8850 broad.mit.edu 37 3 20113878 20113879 + Frame_Shift_Ins INS - - C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:20113878_20113879insC ENST00000263754.4 + 2 812_813 c.357_358insC c.(355-360)acccccfs p.TP119fs KAT2B_ENST00000426228.1_3'UTR NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 119 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 CCTCACCCACTCCCCCCAGAGC 0.450 7 691 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 7 339 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400814 195400815 + RNA INS - - TT TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr3:195400814_195400815insTT ENST00000445430.1 + 0 1410_1411 ACCTGGTTGTCTGGTCAGGCAT 0.574 9 103 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 239 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 10 197 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 9 861 --- --- --- --- GTF2H2B 0 broad.mit.edu 37 5 69730714 69730715 + RNA INS - - T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr5:69730714_69730715insT ENST00000513202.1 + 0 753 NR_033417.1 CTATGAAGGTGTTTTTTTTTCC 0.322 10 308 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 9 288 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 7 429 --- --- --- --- RP11-244K5.8 0 broad.mit.edu 37 6 150225646 150225649 + RNA DEL CAAA CAAA - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr6:150225646_150225649delCAAA ENST00000606915.1 + 0 889 RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA NR_045126.1 TGTGGCAAATCAAACAGAGCTGGA 0.559 9 32 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 10 938 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 14 114 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 14 82 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 9 439 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 9 700 --- --- --- --- PCMTD1 115294 broad.mit.edu 37 8 52733063 52733063 + Frame_Shift_Del DEL T T - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr8:52733063delT ENST00000360540.5 - 7 1328 c.922delA c.(922-924)tgfs p.M308fs PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 308 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) tcctcttccattttttcatcc 0.373 14 359 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 8 1071 --- --- --- --- MYC 4609 broad.mit.edu 37 8 128750605 128750607 + In_Frame_Del DEL CAG CAG - rs61752959 byFrequency TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr8:128750605_128750607delCAG ENST00000377970.2 + 2 652_654 c.142_144delCAG c.(142-144)del p.Q52del MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 37 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q33H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAACTTCTACCAGCAGCAGCAGC 0.611 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 304 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 11 17 --- --- --- --- AQP7 364 broad.mit.edu 37 9 33385689 33385690 + Frame_Shift_Ins INS - - G rs3215969 byFrequency TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:33385689_33385690insG ENST00000537089.1 - 6 742_743 c.424_425insC c.(424-426)catfs p.H142fs AQP7_ENST00000377425.4_Frame_Shift_Ins_p.H177fs|AQP7_ENST00000541274.1_Frame_Shift_Ins_p.P102fs|AQP7_ENST00000539936.1_Frame_Shift_Ins_p.H234fs O14520 AQP7_HUMAN aquaporin 7 234 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity p.R234fs*35(1) NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) GGTGAAGATGCGGGGGGGCAGG 0.579 7 707 --- --- --- --- RGS3 5998 broad.mit.edu 37 9 116246504 116246506 + In_Frame_Del DEL CTT CTT - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:116246504_116246506delCTT ENST00000374140.2 + 7 821_823 c.612_614delCTT c.(610-615)cac>ca p.HF204del RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del|RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 204 C2. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TCCACGAGCACTTCTTCTTGTAA 0.473 13 408 --- --- --- --- COL27A1 85301 broad.mit.edu 37 9 116918267 116918269 + In_Frame_Del DEL GCG GCG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:116918267_116918269delGCG ENST00000356083.3 + 1 428_430 c.37_39delGCG c.(37-39)del p.A18del NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 18 cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ccgaggcacagcggcggcggcgg 0.768 8 125 --- --- --- --- C9orf173 441476 broad.mit.edu 37 9 140146549 140146550 + Frame_Shift_Ins INS - - C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr9:140146549_140146550insC ENST00000388931.3 + 3 391_392 c.365_366insC c.(364-366)cccfs p.P122fs C9orf173_ENST00000412566.1_Frame_Shift_Ins_p.P122fs NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1 NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1 Q8N7X2 CI173_HUMAN chromosome 9 open reading frame 173 122 kidney(1)|large_intestine(1)|lung(5)|pancreas(1) 8 TCCTCCCCACACCCCCACTACA 0.678 49 295 --- --- --- --- ANKRD26 22852 broad.mit.edu 37 10 27324564 27324565 + Frame_Shift_Ins INS - - T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr10:27324564_27324565insT ENST00000376087.4 - 24 2979_2980 c.2814_2815insA c.(2812-2817)aaaaaafs p.KK938fs ANKRD26_ENST00000436985.2_Frame_Shift_Ins_p.KK954fs|ANKRD26_ENST00000376070.3_Frame_Shift_Ins_p.KK495fs NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 937 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CATTTCTTTTCTTTTTCCTGGT 0.297 26 145 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 7 471 --- --- --- --- CUEDC2 79004 broad.mit.edu 37 10 104184037 104184039 + In_Frame_Del DEL GCA GCA - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr10:104184037_104184039delGCA ENST00000369937.4 - 5 538_540 c.393_395delTGC c.(391-396)gca>gc p.AA131del CUEDC2_ENST00000465409.1_5'UTR NM_024040.2 NP_076945.2 Q9H467 CUED2_HUMAN CUE domain containing 2 131 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TTGGGTGTCTGCAGCAGCAGCAG 0.581 10 548 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 9 839 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 7 596 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 9 509 --- --- --- --- KBTBD4 55709 broad.mit.edu 37 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:47599139delA ENST00000533290.1 - 1 1202 c.488delT c.(487-489)tgfs p.L163fs KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 138 BACK. NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TGTGCGGGCCAAAAACCGAGA 0.517 7 932 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000529259.1_3'UTR|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 10 728 --- --- --- --- EXPH5 23086 broad.mit.edu 37 11 108382677 108382678 + Frame_Shift_Ins INS - - G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:108382677_108382678insG ENST00000265843.4 - 6 3666_3667 c.3556_3557insC c.(3556-3558)agafs p.R1186fs EXPH5_ENST00000428840.1_Frame_Shift_Ins_p.R1110fs|EXPH5_ENST00000443411.1_Frame_Shift_Ins_p.R998fs|EXPH5_ENST00000525344.1_Frame_Shift_Ins_p.R1179fs NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1186 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGTGTATTCTTGGAAGTTTTCC 0.416 91 487 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 11 358 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 11 683 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 12 868 --- --- --- --- MBD6 0 broad.mit.edu 37 12 57919654 57919666 + Frame_Shift_Del DEL GGGGCCCCTGGGA GGGGCCCCTGGGA - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:57919654_57919666delGGGGCCCCTGGGA ENST00000355673.3 + 6 1259_1271 c.903_915delGGGGCCCCTGGGA c.(901-915)ctfs p.LGPLG301fs MBD6_ENST00000431731.2_Frame_Shift_Del_p.LGPLG301fs NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 301 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCCTGGTCCTGGGGCCCCTGGGAGGGGCCCCCA 0.695 30 276 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 10 228 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 7 322 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 7 671 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25541678 25541679 + RNA INS - - T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr13:25541678_25541679insT ENST00000429698.1 - 0 282 GTTGAtttttcttttttttgag 0.391 7 19 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 7 495 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr13:33344888delA ENST00000315596.10 + 33 4347 c.4161delA c.(4159-4161)ccfs p.P1387fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1387 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.N1390fs*4(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CATCACAACCAAAAAAAAATG 0.338 7 92 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 13 461 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88329794 88329796 + In_Frame_Del DEL CGG CGG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr13:88329794_88329796delCGG ENST00000325089.6 + 2 2370_2372 c.2151_2153delCGG c.(2149-2154)tac>ta p.YG717del SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 717 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) ACAGCGTGTACGGCGGCGGCGGC 0.645 8 343 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205954 74205956 + In_Frame_Del DEL TGC TGC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr14:74205954_74205956delTGC ENST00000286523.5 - 2 1538_1540 c.756_758delGCA c.(754-759)caa>ca p.QQ252del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.QQ252del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 ctgctgtggttgctgctgctgct 0.645 7 148 --- --- --- --- GPR65 0 broad.mit.edu 37 14 88477554 88477555 + Frame_Shift_Ins INS - - T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr14:88477554_88477555insT ENST00000267549.3 + 2 921_922 c.363_364insT c.(361-366)aattttfs p.NF121fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 121 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACCCTTTGAAGTTTTTTTTCCT 0.426 10 1054 --- --- --- --- CNGB1 1258 broad.mit.edu 37 16 57983275 57983277 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr16:57983275_57983277delTCC ENST00000564448.1 - 14 1143_1145 c.1083_1085delGGA c.(1081-1086)gaa>ga p.EE363del CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 369 Poly-Glu. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 ctcctcctcttcctcctcctcct 0.586 9 214 --- --- --- --- CTRL 1506 broad.mit.edu 37 16 67963919 67963919 + Frame_Shift_Del DEL T T - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr16:67963919delT ENST00000574481.1 - 7 1274 c.713delA c.(712-714)acfs p.N238fs NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 238 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) CACATTGCAGTTTTTGGTGCC 0.552 12 556 --- --- --- --- CHRNB1 1140 broad.mit.edu 37 17 7357666 7357668 + In_Frame_Del DEL CTG CTG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:7357666_7357668delCTG ENST00000306071.2 + 8 938_940 c.871_873delCTG c.(871-873)del p.L294del CHRNB1_ENST00000576360.1_Intron|CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 294 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) TACTGTGTTCCTGCTGCTGCTGG 0.498 7 721 --- --- --- --- WRAP53 55135 broad.mit.edu 37 17 7606722 7606722 + Frame_Shift_Del DEL C C - rs7640 byFrequency TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:7606722delC ENST00000316024.5 + 10 3913 c.1565delC c.(1564-1566)ggfs p.A522fs WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 522 A -> G (in dbSNP:rs7640). positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding p.A522G(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TGTGGGGGGGCGCCAGACTCC 0.582 8 237 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 8 567 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 7 1188 --- --- --- --- LRRC37A11P 0 broad.mit.edu 37 17 37209433 37209433 + RNA DEL T T - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:37209433delT ENST00000425901.2 + 0 3555 NR_033753.2 CAAATCTCtatttttttttta 0.358 3 4 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 7 636 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr17:76046980delA ENST00000335749.4 + 3 2406 c.1837delA c.(1837-1839)aafs p.K614fs TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 614 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGGGATGGGAAAAAAAATGG 0.522 8 454 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 7 78 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 9 265 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - - T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr18:57013193_57013194insT ENST00000251047.5 - 8 1629_1630 c.912_913insA c.(910-915)aaaggafs p.G305fs NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 305 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 9 448 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 7 230 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 18 211 --- --- --- --- SBSN 374897 broad.mit.edu 37 19 36019046 36019047 + Frame_Shift_Del DEL CT CT - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:36019046_36019047delCT ENST00000452271.2 - 1 165_166 c.137_138delAG c.(136-138)gfs p.E46fs SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 46 extracellular region p.E46fs*27(1) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTTGCCCACCTCTCTCTCTGC 0.579 7 871 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43428981 43428982 + RNA INS - - G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:43428981_43428982insG ENST00000406070.2 - 0 1340 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) tccagtctacagtggataataa 0.406 16 176 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 8 506 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 10 1758 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - - G TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr20:56227348_56227349insG ENST00000341744.3 - 4 943_944 c.624_625insC c.(622-627)ccgcagfs p.Q209fs PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 209 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GAGTTACTGCTGGGGGGGCAGG 0.683 52 261 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - rs76572304 TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:35661544delA ENST00000216106.5 + 5 1291 c.1163delA c.(1162-1164)gafs p.E388fs HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 388 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGGCATAGTGAaaaaaaaaag 0.493 10 263 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 383 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 10 572 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 8 385 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 9 698 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3654586b-e1d2-42e7-8560-b339bd5e3488 8a1fecb6-04f4-413a-bed8-63fce4ac7072 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 15 525 --- --- --- ---