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 CCDC77 84318 broad.mit.edu 37 12 550091 550091 + Missense_Mutation SNP G G T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr12:550091G>T ENST00000239830.4 + 12 1428 c.1249G>T c.(1249-1251)Gta>Tta p.V417L CCDC77_ENST00000540180.1_Missense_Mutation_p.V385L|CCDC77_ENST00000422000.1_Missense_Mutation_p.V385L|CCDC77_ENST00000412006.2_Missense_Mutation_p.V385L NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 417 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) TATCCTGGAAGTAGAAGGCTT 0.433000 28 42 1.77063e-15 2.0025e-15 1 1 0 GNAZ 2781 broad.mit.edu 37 22 23438530 23438530 + Silent SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr22:23438530C>T ENST00000248996.4 + 2 1314 c.648C>T c.(646-648)ttC>ttT p.F216F RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 216 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TCCACTGCTTCGAGGGCGTCA 0.562000 78 104 0 0 1 0 0 EIF6 3692 broad.mit.edu 37 20 33872044 33872044 + Missense_Mutation SNP G G T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr20:33872044G>T ENST00000374450.3 - 3 392 c.128C>A c.(127-129)tCc>tAc p.S43Y EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374443.3_Missense_Mutation_p.P83T|EIF6_ENST00000374436.3_Missense_Mutation_p.S43Y NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 43 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) GATGGTATCGGAGAGCTCGCC 0.677000 28 41 3.86903e-22 4.48241e-22 1 1 0 OR51B5 282763 broad.mit.edu 37 11 5363992 5363992 + Nonsense_Mutation SNP C C A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr11:5363992C>A ENST00000300773.2 - 1 817 c.763G>T c.(763-765)Gga>Tga p.G255* HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGACAATCCAATCACTGTG 0.448000 18 36 2.37509e-13 2.59349e-13 1 1 0 IFNA2 3440 broad.mit.edu 37 9 21384772 21384772 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:21384772C>T ENST00000380206.2 - 1 624 c.557G>A c.(556-558)aGt>aAt p.S186N NM_000605.3 NP_000596.2 P01563 IFNA2_HUMAN interferon, alpha 2 186 blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1) 13 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TCATTCCTTACTTCTTAAACT 0.378000 45 57 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84103573 84103573 + Missense_Mutation SNP G G A rs140160203 TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr16:84103573G>A ENST00000343411.3 - 14 2348 c.1853C>T c.(1852-1854)cCg>cTg p.P618L NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 618 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CTTGCTTCGCGGGGGAGTAGG 0.428000 100 9 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 99995514 99995514 + Silent SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:99995514C>T ENST00000289371.6 + 11 2077 c.1875C>T c.(1873-1875)aaC>aaT p.N625N NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AAAATGTAAACACCGAAAAGC 0.299000 6 15 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924764 105924764 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr11:105924764C>T ENST00000526793.1 - 3 811 c.652G>A c.(652-654)Gtt>Att p.V218I KBTBD3_ENST00000531837.1_Missense_Mutation_p.V218I|KBTBD3_ENST00000534815.1_Missense_Mutation_p.V139I NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 214 BACK. NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CTAAGGACAACTTTCAGTACC 0.333000 18 51 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47365610 47365610 + Missense_Mutation SNP C C A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr18:47365610C>A ENST00000285039.7 - 36 5055 c.4756G>T c.(4756-4758)Gac>Tac p.D1586Y MYO5B_ENST00000324581.6_Missense_Mutation_p.D701Y|MYO5B_ENST00000592688.1_Missense_Mutation_p.D156Y|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1586 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCGGTGAGGTCAAAATTCTTA 0.493000 27 45 2.48779e-11 2.68569e-11 1 1 0 TNFRSF10A 8797 broad.mit.edu 37 8 23082527 23082527 + Silent SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr8:23082527C>T ENST00000221132.3 - 1 112 c.48G>A c.(46-48)gtG>gtA p.V16V RP11-1149O23.3_ENST00000517774.1_RNA NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 16 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) GATTCGGAGTCACTGCCAGGA 0.612000 13 1 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87489308 87489308 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr10:87489308G>A ENST00000327946.7 - 9 1382 c.1297C>T c.(1297-1299)Cgc>Tgc p.R433C GRID1_ENST00000536331.1_Missense_Mutation_p.R4C NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 433 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCTTGGAGGCGGCTGCCCATG 0.517000 Multiple Myeloma(13;0.14) 21 46 0 0 1 0 0 EPHX3 79852 broad.mit.edu 37 19 15338452 15338452 + Silent SNP C C T rs143850888 byFrequency TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr19:15338452C>T ENST00000221730.3 - 7 1099 c.879G>A c.(877-879)caG>caA p.Q293Q EPHX3_ENST00000435261.1_Silent_p.Q293Q|EPHX3_ENST00000602233.1_Silent_p.Q293Q NM_024794.2 NP_079070.1 Q9H6B9 EPHX3_HUMAN epoxide hydrolase 3 293 extracellular region hydrolase activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 TGGTCAGCTCCTGGGGTTCCA 0.632000 12 18 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43850875 43850875 + Missense_Mutation SNP T T C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr20:43850875T>C ENST00000372769.3 + 2 692 c.602T>C c.(601-603)cTa>cCa p.L201P NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 201 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ACTGAAGAACTAGTAGTTAAC 0.383000 26 25 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172725255 172725255 + Missense_Mutation SNP C C G TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:172725255C>G ENST00000422440.2 - 3 182 c.145G>C c.(145-147)Gat>Cat p.D49H SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_5'UTR NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 49 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CTATTTGGATCATTATACAGT 0.383000 24 34 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137309085 137309085 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:137309085C>T ENST00000540193.1 + 4 1324 c.401C>T c.(400-402)cCg>cTg p.P134L RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.P231L P19793 RXRA_HUMAN retinoid X receptor, alpha 231 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding p.P231L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GAGGACATGCCGGTGGAGAGG 0.652000 12 31 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6457364 6457364 + Missense_Mutation SNP G G A rs137852635 TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr12:6457364G>A ENST00000358945.3 - 13 2191 c.1751C>T c.(1750-1752)tCg>tTg p.S584L SCNN1A_ENST00000540037.1_Missense_Mutation_p.S262L|SCNN1A_ENST00000228916.2_Missense_Mutation_p.S562L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S621L|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S585L P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 562 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) AGACAACACCGAGGAGCCGAA 0.572000 15 22 0 0 1 0 0 ZNF783 100289678 broad.mit.edu 37 7 148963916 148963916 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr7:148963916G>A ENST00000434415.1 + 3 590 c.427G>A c.(427-429)Gtg>Atg p.V143M NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 143 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) CCAGGTGCCCGTGACCTTCGA 0.607000 44 70 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52781415 52781415 + Nonsense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr14:52781415G>A ENST00000245457.5 + 1 303 c.149G>A c.(148-150)tGg>tAg p.W50* PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 50 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) GCGCGCCGCTGGCGGGGGGAC 0.697000 5 9 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38103714 38103714 + Missense_Mutation SNP T T A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr3:38103714T>A ENST00000308059.6 + 4 749 c.728T>A c.(727-729)gTc>gAc p.V243D DLEC1_ENST00000452631.2_Missense_Mutation_p.V243D|DLEC1_ENST00000346219.3_Missense_Mutation_p.V243D Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 243 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AAGCGTTCCGTCCAGAAGAAA 0.463000 26 24 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292839 102292839 + RNA SNP C C A rs62026971 TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr15:102292839C>A ENST00000561463.1 + 0 885 CTCGTGGAGGCGTCGGCAGAG 0.597000 3 15 1 1 1 1 0 SLC2A3 6515 broad.mit.edu 37 12 8086455 8086455 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr12:8086455C>T ENST00000075120.7 - 2 299 c.59G>A c.(58-60)gGc>gAc p.G20D NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 20 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TTGGAAAGAGCCGATTGTAGC 0.448000 OREG0021656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 34 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502714 91502714 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr12:91502714C>T ENST00000266718.4 - 2 497 c.43G>A c.(43-45)Ggt>Agt p.G15S LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 15 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 CCACTGGTACCACCAATCAAT 0.363000 11 24 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1405908 1405908 + Missense_Mutation SNP A A G TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr10:1405908A>G ENST00000381312.1 - 3 717 c.392T>C c.(391-393)gTg>gCg p.V131A NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 131 DRBM 1. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GTGCAGCTGCACCAGCGCGTT 0.677000 9 13 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193466 128193466 + Silent SNP C C A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr10:128193466C>A ENST00000284694.7 - 3 423 c.303G>T c.(301-303)gcG>gcT p.A101A C10orf90_ENST00000454341.1_Silent_p.A101A|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Silent_p.A198A|C10orf90_ENST00000392694.1_Silent_p.A54A|C10orf90_ENST00000356858.3_Silent_p.A54A NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 101 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CCGGAAGTAACGCAAATGCTC 0.602000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 46 5.44703e-19 6.23455e-19 1 1 0 KIAA2026 158358 broad.mit.edu 37 9 6007677 6007677 + Silent SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:6007677C>T ENST00000399933.3 - 1 110 c.111G>A c.(109-111)caG>caA p.Q37Q KIAA2026_ENST00000381461.2_Silent_p.Q37Q NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 37 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GCCCTGAGGTCTGGGCCGCCG 0.716000 6 11 0 0 1 0 0 NDUFA10 4705 broad.mit.edu 37 2 240946758 240946758 + Missense_Mutation SNP G G T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:240946758G>T ENST00000252711.2 - 7 879 c.779C>A c.(778-780)gCa>gAa p.A260E NDUFA10_ENST00000404554.1_Missense_Mutation_p.A260E|NDUFA10_ENST00000307300.4_Missense_Mutation_p.A290E NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 260 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AGCTTCCCTTGCAGAATATTG 0.308000 5 13 0.000602214 0.000615165 1 1 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 150 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41877360 41877360 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr3:41877360G>A ENST00000301831.4 - 18 2222 c.1760C>T c.(1759-1761)aCc>aTc p.T587I NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 587 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) TCTCACCTGGGTGGCTACAAG 0.378000 50 59 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55562761 55562761 + Nonsense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr1:55562761G>A ENST00000294383.6 - 49 5799 c.5800C>T c.(5800-5802)Cga>Tga p.R1934* USP24_ENST00000407756.1_Nonsense_Mutation_p.R1774* NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1934 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TCCACACTTCGCCCATTTTCC 0.488000 18 30 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112182795 112182795 + Nonsense_Mutation SNP C C A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:112182795C>A ENST00000412145.1 - 9 3382 c.829G>T c.(829-831)Gaa>Taa p.E277* PTPN3_ENST00000374541.2_Nonsense_Mutation_p.E408*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.E254*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.E232* NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 408 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TCTTCCGTTTCCGTGATGTAG 0.507000 22 15 2.39556e-15 2.6774e-15 1 1 0 ABCA9 10350 broad.mit.edu 37 17 67008197 67008197 + Nonsense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr17:67008197G>A ENST00000340001.4 - 23 3278 c.3067C>T c.(3067-3069)Cga>Tga p.R1023* ABCA9_ENST00000453985.2_Nonsense_Mutation_p.R1023*|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.R1023* NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1023 transport integral to membrane ATP binding|ATPase activity 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) GTGTTACTTCGGTACCCATAC 0.418000 16 65 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371086 139371086 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:139371086G>A ENST00000313050.7 - 1 1055 c.982C>T c.(982-984)Cgg>Tgg p.R328W SEC16A_ENST00000431893.2_Missense_Mutation_p.R150W|SEC16A_ENST00000290037.6_Missense_Mutation_p.R150W|SEC16A_ENST00000371706.3_Missense_Mutation_p.R150W NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 150 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GAGGCGGGCCGGTGCTCATTC 0.592000 15 17 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20388887 20388887 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr14:20388887G>A ENST00000315915.4 + 1 147 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTGTGCTGGGAAATCTTCTC 0.413000 45 157 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153026544 153026544 + Missense_Mutation SNP A A C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr5:153026544A>C ENST00000285900.5 + 3 620 c.277A>C c.(277-279)Act>Cct p.T93P GRIA1_ENST00000448073.4_Missense_Mutation_p.T103P|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Missense_Mutation_p.T103P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.T24P|GRIA1_ENST00000340592.5_Missense_Mutation_p.T93P NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 93 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGAACGTAGGACTGTCAACAT 0.463000 41 45 0 0 1 0 0 RBP4 5950 broad.mit.edu 37 10 95353761 95353761 + Silent SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr10:95353761G>A ENST00000371467.1 - 5 706 c.387C>T c.(385-387)taC>taT p.Y129Y RBP4_ENST00000371464.3_Silent_p.Y129Y|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Silent_p.Y127Y P02753 RET4_HUMAN retinol binding protein 4, plasma 129 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) CATACGTGTCGTAGTCTGTGT 0.572000 18 54 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32975425 32975425 + Silent SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr12:32975425G>A ENST00000340811.4 - 8 1923 c.1815C>T c.(1813-1815)ggC>ggT p.G605G PKP2_ENST00000070846.6_Silent_p.G649G NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 649 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGCTTCGACTGCCAAAACATC 0.393000 4 57 0 0 1 0 0 CA11 770 broad.mit.edu 37 19 49142241 49142241 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr19:49142241G>A ENST00000084798.4 - 8 1544 c.865C>T c.(865-867)Cgg>Tgg p.R289W SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 289 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) TGCAGGGGCCGGCTGTTACCG 0.647000 5 4 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16492112 16492112 + Silent SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr20:16492112G>A ENST00000354981.2 - 6 664 c.507C>T c.(505-507)acC>acT p.T169T KIF16B_ENST00000355755.3_Silent_p.T169T|KIF16B_ENST00000408042.1_Silent_p.T169T|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 169 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCAAATTGAAGGTTTTAGATG 0.328000 41 47 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109691914 109691914 + Silent SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:109691914G>A ENST00000277225.5 + 3 6010 c.5721G>A c.(5719-5721)ctG>ctA p.L1907L ZNF462_ENST00000457913.1_Silent_p.L1907L|ZNF462_ENST00000441147.2_Silent_p.L752L Q96JM2 ZN462_HUMAN zinc finger protein 462 1907 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAGCCGAGCTGACCTCACACT 0.498000 14 16 0 0 1 0 0 TEX10 54881 broad.mit.edu 37 9 103111575 103111575 + Missense_Mutation SNP T T C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:103111575T>C ENST00000374902.4 - 2 247 c.71A>G c.(70-72)aAg>aGg p.K24R TEX10_ENST00000535814.1_Missense_Mutation_p.K27R|TEX10_ENST00000537512.1_Intron NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 24 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) ATTTTGTAACTTGGGCTTCTT 0.308000 3 34 0 0 1 0 0 OR1E1 8387 broad.mit.edu 37 17 3301275 3301275 + Missense_Mutation SNP G G C rs1735010 TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr17:3301275G>C ENST00000322608.2 - 1 429 c.430C>G c.(430-432)Ctg>Gtg p.L144V NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 AGCGCCACCAGGGCGAGACAG 0.567000 OREG0007321 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 5 26 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15470660 15470660 + Silent SNP T T C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr7:15470660T>C ENST00000342526.3 - 4 652 c.483A>G c.(481-483)agA>agG p.R161R NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 161 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 GGACAGACTGTCTCAGTGCTG 0.358000 28 30 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73649903 73649903 + Missense_Mutation SNP A A G TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr13:73649903A>G ENST00000377687.4 + 4 1789 c.1253A>G c.(1252-1254)gAt>gGt p.D418G KLF5_ENST00000539231.1_Missense_Mutation_p.D327G NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 418 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GCGCGATCGGATGAGCTGACC 0.597000 20 37 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552529 1552529 + Silent SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr20:1552529G>A ENST00000381605.4 - 3 652 c.588C>T c.(586-588)aaC>aaT p.N196N RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 196 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.N196N(1) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CGGGGTCCACGTTGGTCTGGA 0.552000 36 49 0 0 1 0 0 ZNF275 10838 broad.mit.edu 37 X 152612855 152612855 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chrX:152612855G>A ENST00000421401.3 + 4 889 c.712G>A c.(712-714)Gcc>Acc p.A238T ZNF275_ENST00000370251.3_Missense_Mutation_p.A238T|ZNF275_ENST00000440091.1_Missense_Mutation_p.A268T|ZNF275_ENST00000370249.2_Missense_Mutation_p.A185T A6NFS0 A6NFS0_HUMAN zinc finger protein 275 238 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AAAGCCTTTCGCCTGCAAGGC 0.577000 44 5 0 0 1 0 0 MSS51 118490 broad.mit.edu 37 10 75185672 75185672 + Silent SNP T T A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr10:75185672T>A ENST00000299432.2 - 5 1031 c.966A>T c.(964-966)acA>acT p.T322T MSS51_ENST00000372912.1_Silent_p.T322T NM_001024593.1 NP_001019764.1 Q4VC12 ZMY17_HUMAN MSS51 mitochondrial translational activator 322 zinc ion binding TAAGCTGAATTGTGCCAGGTT 0.552000 16 34 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77298758 77298758 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr5:77298758G>A ENST00000255194.6 - 27 3428 c.3253C>T c.(3253-3255)Cgg>Tgg p.R1085W AP3B1_ENST00000519295.1_Missense_Mutation_p.R1036W NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 1085 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) TTCAGTTCCCGCAGCAGAACA 0.493000 Hermansky-Pudlak syndrome 31 39 0 0 1 0 0 GPAA1 8733 broad.mit.edu 37 8 145138146 145138146 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr8:145138146C>T ENST00000355091.4 + 2 315 c.194C>T c.(193-195)gCg>gTg p.A65V GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Intron NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 65 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGCAGTTTGCGGGCGGAGAC 0.672000 4 86 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120353838 120353838 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr10:120353838C>T ENST00000239032.2 - 2 1057 c.919G>A c.(919-921)Gcc>Acc p.A307T PRLHR_ENST00000369169.1_Missense_Mutation_p.A307T NM_004248.2 NP_004239 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 307 female pregnancy integral to plasma membrane neuropeptide Y receptor activity p.A307P(1) large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GGGTCGATGGCGTGGGGGTCG 0.647000 21 36 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266137 41266137 + Missense_Mutation SNP C C T rs121913409 TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr3:41266137C>T ENST00000349496.5 + 3 414 c.134C>T c.(133-135)tCt>tTt p.S45F CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45F NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 45 Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S45F(384)|p.S45del(53)|p.A5_A80del(53)|p.S45C(19)|p.S45Y(17)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.S45_S47>C(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.S45fs*2(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACAGCTCCTTCTCTGAGTGGT 0.498000 S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 12 16 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 4 56 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 101023036 101023036 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr3:101023036C>T ENST00000193391.7 - 3 642 c.455G>A c.(454-456)gGc>gAc p.G152D NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 152 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AAAATTTGTGCCCATTTCAAA 0.408000 4 79 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112182796 112182796 + Silent SNP C C A rs142732873 byFrequency TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:112182796C>A ENST00000412145.1 - 9 3381 c.828G>T c.(826-828)acG>acT p.T276T PTPN3_ENST00000374541.2_Silent_p.T407T|PTPN3_ENST00000262539.3_Silent_p.T253T|PTPN3_ENST00000446349.1_Silent_p.T231T NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 407 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CTTCCGTTTCCGTGATGTAGG 0.507000 22 15 7.87624e-14 8.7005e-14 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50468301 50468301 + Silent SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr7:50468301G>A ENST00000331340.3 + 8 1691 c.1536G>A c.(1534-1536)ggG>ggA p.G512G IKZF1_ENST00000343574.5_Silent_p.G425G|IKZF1_ENST00000438033.1_Silent_p.G425G|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Silent_p.G369G|IKZF1_ENST00000439701.1_Silent_p.G470G|IKZF1_ENST00000346667.4_Silent_p.G282G|IKZF1_ENST00000359197.5_Silent_p.G470G|IKZF1_ENST00000357364.4_Silent_p.G425G NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 512 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TAACGCGAGGGGAGCACCGCT 0.637000 """D,T""" BCL6 """ALL, DLBCL""" 16 9 0 0 1 0 0 FAM86EP 348926 broad.mit.edu 37 4 3944146 3944146 + RNA SNP A A G TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr4:3944146A>G ENST00000313946.8 - 0 2185 CTGATCCTGCAGGCAAGCTAA 0.537000 4 17 0 0 1 0 0 SHOX2 6474 broad.mit.edu 37 3 157823797 157823797 + Missense_Mutation SNP G G T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr3:157823797G>T ENST00000389589.4 - 1 152 c.17C>A c.(16-18)gCg>gAg p.A6E SHOX2_ENST00000483851.2_Missense_Mutation_p.A6E|SHOX2_ENST00000441443.2_5'UTR|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.A6E|SHOX2_ENST00000554685.1_5'UTR NM_003030.4 NP_003021.3 O60902 SHOX2_HUMAN short stature homeobox 2 6 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GGAGACGAACGCCGTAAGTTC 0.592000 14 19 6.72482e-11 7.17818e-11 1 1 0 PCBP1 5093 broad.mit.edu 37 2 70315530 70315530 + Missense_Mutation SNP C C G TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:70315530C>G ENST00000303577.5 + 1 946 c.655C>G c.(655-657)Cta>Gta p.L219V PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 219 nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 GGGACCACCTCTAGATGCCTA 0.602000 7 11 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 3 40 0 0 1 0 0 FAM20A 54757 broad.mit.edu 37 17 66535530 66535530 + Nonsense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr17:66535530G>A ENST00000592554.1 - 10 2031 c.1309C>T c.(1309-1311)Cga>Tga p.R437* PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 437 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) TGGGAGTGTCGTCCGAACCTA 0.512000 12 65 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71780310 71780310 + Missense_Mutation SNP T T C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:71780310T>C ENST00000258104.3 + 20 2199 c.1922T>C c.(1921-1923)gTc>gCc p.V641A DYSF_ENST00000413539.2_Missense_Mutation_p.V672A|DYSF_ENST00000409651.1_Missense_Mutation_p.V673A|DYSF_ENST00000429174.2_Missense_Mutation_p.V641A|DYSF_ENST00000410041.1_Missense_Mutation_p.V659A|DYSF_ENST00000409582.3_Missense_Mutation_p.V658A|DYSF_ENST00000409744.1_Missense_Mutation_p.V628A|DYSF_ENST00000410020.3_Missense_Mutation_p.V659A|DYSF_ENST00000409762.1_Missense_Mutation_p.V658A|DYSF_ENST00000409366.1_Missense_Mutation_p.V642A|DYSF_ENST00000394120.2_Missense_Mutation_p.V642A NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 641 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 AGCCGTGCAGTCTTTGACGGT 0.587000 14 17 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80404869 80404869 + Missense_Mutation SNP T T C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr5:80404869T>C ENST00000265080.4 + 13 1877 c.1810T>C c.(1810-1812)Tcc>Ccc p.S604P NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 604 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGAAGAGAATTCCAAAGTCAC 0.333000 15 31 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230326 147230326 + Missense_Mutation SNP T T C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr1:147230326T>C ENST00000271348.2 - 2 1182 c.1021A>G c.(1021-1023)Aag>Gag p.K341E GJA5_ENST00000369237.1_Missense_Mutation_p.K341E|RP11-433J22.2_ENST00000428911.1_RNA NM_005266.5 NP_005257.2 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 341 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) AGACGTCGCTTGTCACTATGA 0.547000 28 25 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7612385 7612385 + Silent SNP T T C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr7:7612385T>C ENST00000340080.4 + 4 700 c.279T>C c.(277-279)ggT>ggC p.G93G MIOS_ENST00000405785.1_Silent_p.G93G NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 93 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAAGCCTTGGTCAAGATCATA 0.398000 32 43 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12939151 12939151 + Silent SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chrX:12939151G>A ENST00000218032.6 + 2 2079 c.1992G>A c.(1990-1992)gcG>gcA p.A664A TLR8_ENST00000311912.5_Silent_p.A682A NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 664 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ATTTGCCAGCGAGTCTCACTG 0.383000 30 2 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 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_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_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) 25 29 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 5 78 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111794202 111794202 + Silent SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr3:111794202C>T ENST00000452346.2 + 15 1821 c.1818C>T c.(1816-1818)atC>atT p.I606I TMPRSS7_ENST00000419127.1_Silent_p.I480I Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 606 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TTCACCGCATCATCGGAGGCA 0.547000 4 85 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66440990 66440990 + Silent SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr5:66440990C>T ENST00000404260.3 + 23 3194 c.2886C>T c.(2884-2886)tcC>tcT p.S962S MAST4_ENST00000403625.2_Silent_p.S959S|MAST4_ENST00000405643.1_Silent_p.S780S|MAST4_ENST00000403666.1_Silent_p.S770S|MAST4_ENST00000261569.7_Silent_p.S765S O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 962 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TATCAACATCCAACTCTTCAG 0.383000 4 10 0 0 1 0 0 TTC31 64427 broad.mit.edu 37 2 74717852 74717852 + Nonsense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:74717852C>T ENST00000410003.1 + 5 541 c.532C>T c.(532-534)Cga>Tga p.R178* TTC31_ENST00000233623.5_Nonsense_Mutation_p.R178*|TTC31_ENST00000442235.2_Nonsense_Mutation_p.R34*|TTC31_ENST00000463189.1_3'UTR Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 178 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 AGAGAAAAAGCGACTCAAGAA 0.547000 5 10 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118968583 118968583 + Splice_Site SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr5:118968583G>A ENST00000515256.1 + 2 383 c.211G>A c.(211-213)Gga>Aga p.G71R A1A519 F170A_HUMAN family with sequence similarity 170, member A 71 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 CATCCACAGTGGTAAGGGTGC 0.537000 18 26 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41598929 41598929 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr17:41598929G>A ENST00000262415.3 + 21 3331 c.3259G>A c.(3259-3261)Gac>Aac p.D1087N DHX8_ENST00000540306.1_Missense_Mutation_p.D1087N NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1087 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AGGCATAATGGACAGGTAAGC 0.473000 19 64 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94708167 94708167 + Missense_Mutation SNP A A G TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr14:94708167A>G ENST00000304338.3 + 10 1173 c.1019A>G c.(1018-1020)tAt>tGt p.Y340C NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 340 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TTGGAATTTTATAAGAAACTT 0.308000 16 26 0 0 1 0 0 SLC37A2 219855 broad.mit.edu 37 11 124955360 124955360 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr11:124955360G>A ENST00000403796.2 + 15 1619 c.1318G>A c.(1318-1320)Ggc>Agc p.G440S SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000407458.1_Missense_Mutation_p.G440S|SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.G440S NM_001145290.1 NP_001138762.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 440 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) TGACGGCACCGGCTCCATAGG 0.642000 5 18 0 0 1 0 0 SERBP1 26135 broad.mit.edu 37 1 67895855 67895855 + Silent SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr1:67895855C>T ENST00000370994.4 - 1 243 c.129G>A c.(127-129)ggG>ggA p.G43G SERBP1_ENST00000370995.2_Silent_p.G43G|SERBP1_ENST00000370990.5_Silent_p.G43G|SERBP1_ENST00000361219.6_Silent_p.G43G NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 43 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 CAACGCCGCCCCCGCCGGCTT 0.627000 4 65 0 0 1 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979592 124979592 + Silent SNP G G C TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr6:124979592G>C ENST00000368416.1 + 4 594 c.534G>C c.(532-534)gcG>gcC p.A178A NKAIN2_ENST00000368417.1_Intron|NKAIN2_ENST00000545433.1_Intron|NKAIN2_ENST00000546092.1_Intron Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 5 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) ATTTCTGTGCGAACTCAGTGC 0.443000 13 12 0 0 1 0 0 AFG3L2 10939 broad.mit.edu 37 18 12351323 12351323 + Missense_Mutation SNP C C A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr18:12351323C>A ENST00000269143.3 - 11 1639 c.1408G>T c.(1408-1410)Gac>Tac p.D470Y NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 470 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) ATCTGCCTGTCGAAACGCCCC 0.458000 13 22 1.5842e-08 1.65384e-08 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158257894 158257894 + Silent SNP G G T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr4:158257894G>T ENST00000296526.7 + 11 2164 c.1839G>T c.(1837-1839)tcG>tcT p.S613S GRIA2_ENST00000507898.1_Silent_p.S566S|GRIA2_ENST00000449365.1_Silent_p.S566S|GRIA2_ENST00000393815.2_Silent_p.S566S|GRIA2_ENST00000264426.9_Silent_p.S613S NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 613 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GCGATATTTCGCCAAGGTTGG 0.413000 48 65 6.31075e-24 7.4015e-24 1 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68222855 68222855 + Missense_Mutation SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr14:68222855G>A ENST00000347230.4 - 36 6734 c.6596C>T c.(6595-6597)cCt>cTt p.P2199L ZFYVE26_ENST00000557306.1_Missense_Mutation_p.P45L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2199 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AACTTCTGGAGGACTCTCCTG 0.463000 65 99 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162614 33162614 + RNA SNP G G A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr5:33162614G>A ENST00000510327.1 - 0 346 ACACCGTGCCGACAGTGGTAA 0.483000 5 13 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580440 40580440 + Missense_Mutation SNP C C T TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr19:40580440C>T ENST00000450241.2 - 6 2118 c.1807G>A c.(1807-1809)Ggt>Agt p.G603S ZNF780A_ENST00000594395.1_Missense_Mutation_p.G638S|ZNF780A_ENST00000340963.5_Missense_Mutation_p.G637S|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.G637S|ZNF780A_ENST00000455521.1_Missense_Mutation_p.G638S|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GCCTTCTCACCTGTGTGAATG 0.408000 35 52 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1918064 1918064 + Missense_Mutation SNP C C A TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr20:1918064C>A ENST00000358771.4 + 8 1517 c.1365C>A c.(1363-1365)agC>agA p.S455R SIRPA_ENST00000400068.3_Missense_Mutation_p.S459R|SIRPA_ENST00000356025.3_Missense_Mutation_p.S455R NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 455 blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) AGTATGCCAGCATTCAGACCA 0.617000 18 23 1.99824e-07 2.0634e-07 1 1 0 NR1I2 8856 broad.mit.edu 37 3 119534285 119534285 + Splice_Site SNP A A G TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr3:119534285A>G ENST00000393716.2 + 7 2892 c.1053A>G c.(1051-1053)ccA>ccG p.P351P NR1I2_ENST00000466380.1_Splice_Site_p.P314P|NR1I2_ENST00000337940.4_Splice_Site_p.P390P NM_003889.3 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 351 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) TCTTCTCCCCAGGTGAGGATC 0.572000 21 30 0 0 1 0 0 GPX7 2882 broad.mit.edu 37 1 53072617 53072617 + Splice_Site SNP C C G TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr1:53072617C>G ENST00000361314.4 + 2 438 c.400C>G c.(400-402)Cag>Gag p.Q134E GPX7_ENST00000459779.1_3'UTR NM_015696.4 NP_056511.2 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 134 response to oxidative stress extracellular region glutathione peroxidase activity breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) GTACCTGGCCCGTAAGTCCTG 0.597000 5 100 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16464417 16464417 + Frame_Shift_Del DEL G G - rs150826389 TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr1:16464417delG ENST00000358432.5 - 5 1397 c.1243delC c.(1243-1245)cgcfs p.R415fs NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 415 Fibronectin type-III 1. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACGCCATTGCGGGCCTCCACG 0.622 15 28 --- --- --- --- CAMSAP2 23271 broad.mit.edu 37 1 200818513 200818519 + Frame_Shift_Del DEL AAATGAA AAATGAA - TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr1:200818513_200818519delAAATGAA ENST00000358823.2 + 11 2886_2892 c.2616_2622delAAATGAA c.(2614-2622)ttaaatgaafs p.LNE872fs CAMSAP2_ENST00000236925.4_Frame_Shift_Del_p.LNE883fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.LNE856fs NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 883 cytoplasm|microtubule protein binding p.E874*(1) AAGAAACTTTAAATGAAGGAGAGATTT 0.406 32 84 --- --- --- --- ASIC4 55515 broad.mit.edu 37 2 220402688 220402688 + Frame_Shift_Del DEL G G - rs115824877 byFrequency TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:220402688delG ENST00000358078.4 + 10 1935 c.1921delG c.(1921-1923)gggfs p.G642fs ASIC4_ENST00000347842.3_Frame_Shift_Del_p.G623fs Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 623 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity AGTGGAGGGTGGGGGGGTCAG 0.627 3 6 --- --- --- --- AGFG1 3267 broad.mit.edu 37 2 228398355 228398355 + Frame_Shift_Del DEL C C - TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr2:228398355delC ENST00000310078.8 + 7 1165 c.905delC c.(904-906)tccfs p.S302fs AGFG1_ENST00000409171.1_Frame_Shift_Del_p.S302fs|AGFG1_ENST00000373671.3_Frame_Shift_Del_p.S262fs|AGFG1_ENST00000409979.2_Frame_Shift_Del_p.S326fs|AGFG1_ENST00000409315.1_Frame_Shift_Del_p.S302fs NM_001135188.1|NM_001135189.1|NM_004504.4 NP_001128660.1|NP_001128661.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 TTCAATACTTCCCAGAGTCAT 0.393 26 53 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 738496 738497 + Frame_Shift_Ins INS - - AGATG TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr9:738496_738497insAGATG ENST00000382303.1 + 12 4197_4198 c.3545_3546insAGATG c.(3544-3549)ttagatfs p.-1183fs KANK1_ENST00000382293.3_Frame_Shift_Ins_p.-1025fs|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Frame_Shift_Ins_p.-1183fs NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) AAGCTGCTGTTAGATGCCGGTA 0.520 8 30 --- --- --- --- HGS 9146 broad.mit.edu 37 17 79663729 79663729 + Frame_Shift_Del DEL G G - TCGA-XF-AAMH-01A-11D-A42E-08 TCGA-XF-AAMH-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bb07f28-fa98-4583-bbd5-4a38ca63b306 2226b682-b9de-450c-85e0-204ddd200a78 g.chr17:79663729delG ENST00000329138.4 + 17 1794 c.1659delG c.(1657-1659)acgfs p.T553fs NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 553 Gln-rich.|Interaction with NF2.|Interaction with STAM1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) AGAAGCAGACGGTCCAGATGC 0.672 13 44 --- --- --- ---