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 ARX 170302 broad.mit.edu 37 X 25028406 25028406 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chrX:25028406T>A ENST00000379044.4 - 3 1300 c.1090A>T c.(1090-1092)Agg>Tgg p.R364W NM_139058.2 NP_620689.1 Q96QS3 ARX_HUMAN aristaless related homeobox 364 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 AAGTCCAGCCTCATGGCCAGT 0.597000 30 11 0 0 0.827153 0 0 CAMLG 819 broad.mit.edu 37 5 134074397 134074397 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:134074397G>A ENST00000297156.2 + 1 207 c.87G>A c.(85-87)gcG>gcA p.A29A CAMLG_ENST00000514518.1_Silent_p.A29A NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 29 defense response endoplasmic reticulum|integral to membrane NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) AGCGTCGGGCGGAGCTGCGTC 0.672000 3 55 0 0 0.184627 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66288833 66288833 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:66288833C>G ENST00000419755.3 + 9 1005 c.927C>G c.(925-927)atC>atG p.I309M ZDHHC24_ENST00000526986.1_3'UTR|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.I272M|BBS1_ENST00000537537.1_Missense_Mutation_p.I160M|BBS1_ENST00000455748.2_Missense_Mutation_p.I175M ATGGAAACATCTATATTCTGA 0.552000 16 25 0 0 0.557998 0 0 FRY 10129 broad.mit.edu 37 13 32783164 32783164 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:32783164C>G ENST00000380250.3 + 32 4689 c.4193C>G c.(4192-4194)tCt>tGt p.S1398C NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1398 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GTGACTGCTTCTCACGGGCTG 0.592000 38 91 0 0 0.827153 0 0 MUC16 94025 broad.mit.edu 37 19 9017366 9017366 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:9017366C>T ENST00000397910.4 - 26 38161 c.37958G>A c.(37957-37959)aGg>aAg p.R12653K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12655 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGACTGTTCCTGTCCAGGGT 0.567000 259 52 0 0 0.870114 0 0 WDR36 134430 broad.mit.edu 37 5 110441021 110441021 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:110441021C>T ENST00000506538.2 + 10 1796 c.1223C>T c.(1222-1224)tCc>tTc p.S408F WDR36_ENST00000505303.1_Missense_Mutation_p.S352F|WDR36_ENST00000513710.2_Missense_Mutation_p.S408F NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 408 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) CAGTCATTTTCCACGGTACAT 0.348000 6 19 0 0 0.248553 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147600709 147600709 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:147600709C>T ENST00000361727.3 + 14 2667 c.2151C>T c.(2149-2151)taC>taT p.Y717Y NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 717 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGCACTACTACTGGGGAGGCT 0.512000 HNSCC(39;0.1) 6 21 0 0 0.307466 0 0 SV2B 9899 broad.mit.edu 37 15 91769539 91769539 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr15:91769539A>G ENST00000394232.1 + 2 516 c.46A>G c.(46-48)Agt>Ggt p.S16G SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.S16G|SV2B_ENST00000557291.1_Intron NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 16 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) CTATGCTCCCAGTGATGGCTA 0.522000 20 30 0 0 0.624587 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77094406 77094406 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:77094406G>A ENST00000328299.3 + 5 981 c.833G>A c.(832-834)aGg>aAg p.R278K NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 278 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 GGGGGTCATAGGTTTATCACT 0.378000 16 32 0 0 0.520397 0 0 ANO1 55107 broad.mit.edu 37 11 70028637 70028637 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:70028637C>T ENST00000355303.5 + 24 2738 c.2433C>T c.(2431-2433)ttC>ttT p.F811F ANO1_ENST00000531349.1_Silent_p.F520F|ANO1_ENST00000538023.1_Silent_p.F811F|ANO1_ENST00000530676.1_Silent_p.F665F|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Silent_p.F665F NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 811 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 CGTCTGACTTCATCCCGCGCC 0.612000 22 42 0 0 0.706142 0 0 PSMA7 5688 broad.mit.edu 37 20 60712444 60712444 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:60712444G>A ENST00000370873.4 - 6 756 c.630C>T c.(628-630)gtC>gtT p.V210V PSMA7_ENST00000370861.1_Silent_p.V140V|PSMA7_ENST00000484488.1_5'UTR NM_002792.3 NP_002783.1 O14818 PSA7_HUMAN proteasome (prosome, macropain) subunit, alpha type, 7 210 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity large_intestine(1)|lung(2) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CTCGCCTCATGACAGCAAGTT 0.463000 OREG0026105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 125 75 0 0 0.870114 0 0 FAM71A 149647 broad.mit.edu 37 1 212798352 212798352 + Missense_Mutation SNP A A T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:212798352A>T ENST00000294829.3 + 1 564 c.133A>T c.(133-135)Ata>Tta p.I45L RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 45 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GTATGCACCGATATTTGAGAG 0.512000 44 114 0 0 0.870114 0 0 KLHL22 84861 broad.mit.edu 37 22 20812254 20812254 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr22:20812254G>C ENST00000328879.4 - 5 1302 c.1146C>G c.(1144-1146)atC>atG p.I382M KLHL22_ENST00000440659.2_Missense_Mutation_p.I239M NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 382 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCAGGGACTGGATCTGGAACC 0.602000 24 46 0 0 0.769981 0 0 TPTE 7179 broad.mit.edu 37 21 10934109 10934109 + Missense_Mutation SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr21:10934109A>C ENST00000298232.7 - 15 1181 c.814T>G c.(814-816)Tac>Gac p.Y272D TPTE_ENST00000361285.4_Missense_Mutation_p.Y290D|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Y252D NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 290 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTAGGATCGTAAGCTCTTTCA 0.303000 14 74 0 0 0.479597 0 0 HESX1 8820 broad.mit.edu 37 3 57232284 57232284 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:57232284G>T ENST00000295934.3 - 4 535 c.499C>A c.(499-501)Cat>Aat p.H167N HESX1_ENST00000473921.1_Missense_Mutation_p.H133N NM_003865.2 NP_003856.1 Q9UBX0 HESX1_HUMAN HESX homeobox 1 167 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) GATTCTCTATGGGACCTTTTC 0.299000 3 21 0.00024832 0.000252676 0.150653 1 0 FBXL7 23194 broad.mit.edu 37 5 15500819 15500819 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:15500819G>A ENST00000504595.1 + 1 515 c.34G>A c.(34-36)Gag>Aag p.E12K NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 12 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GTACGGCAGTGAGGGTGAGTG 0.692000 100 280 0 0 0.870114 0 0 IRX2 153572 broad.mit.edu 37 5 2749625 2749625 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:2749625T>C ENST00000382611.6 - 2 774 c.526A>G c.(526-528)Aac>Gac p.N176D IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.N176D NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 176 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GTCATCTTGTTCTCCTTCTTG 0.597000 31 91 0 0 0.819951 0 0 PTGIR 5739 broad.mit.edu 37 19 47124612 47124612 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:47124612G>A ENST00000291294.2 - 3 1219 c.1086C>T c.(1084-1086)ccC>ccT p.P362P PTGIR_ENST00000598865.1_Silent_p.P150P|PTGIR_ENST00000594275.1_Silent_p.P119P|PTGIR_ENST00000597185.1_Silent_p.P91P NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 362 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) ACTGCTGTGTGGGAGGCAAGG 0.657000 53 15 0 0 0.870114 0 0 PLEKHF2 79666 broad.mit.edu 37 8 96166422 96166422 + Silent SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:96166422C>G ENST00000315367.3 + 2 391 c.150C>G c.(148-150)ccC>ccG p.P50P PLEKHF2_ENST00000519516.1_Silent_p.P50P NM_024613.3 NP_078889.1 Q9H8W4 PKHF2_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 2 50 PH. transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) GGAAAAAGCCCAAAGCAAGGC 0.358000 17 63 0 0 0.557998 0 0 DACH1 1602 broad.mit.edu 37 13 72440381 72440381 + Nonsense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:72440381G>C ENST00000305425.4 - 1 949 c.527C>G c.(526-528)tCa>tGa p.S176* DACH1_ENST00000359684.2_Nonsense_Mutation_p.S176*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.S176*|DACH1_ENST00000354591.4_Nonsense_Mutation_p.S176* NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 174 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GGACGGGGTTGAGTACACGGG 0.607000 6 14 0 0 0.217242 0 0 RABEP1 9135 broad.mit.edu 37 17 5257704 5257704 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:5257704A>G ENST00000262477.6 + 8 1238 c.1014A>G c.(1012-1014)gcA>gcG p.A338A RABEP1_ENST00000408982.2_Silent_p.A338A|RABEP1_ENST00000546142.2_Silent_p.A338A|RABEP1_ENST00000537505.1_Silent_p.A295A|RABEP1_ENST00000341923.6_Silent_p.A338A NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 338 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 ACAAAAAAGCAGATGTTGAGG 0.323000 8 30 0 0 0.335167 0 0 SYNE2 23224 broad.mit.edu 37 14 64690078 64690078 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:64690078A>G ENST00000357395.3 + 113 20592 c.9448A>G c.(9448-9450)Atg>Gtg p.M3150V SYNE2_ENST00000358025.3_Missense_Mutation_p.M6788V|SYNE2_ENST00000458046.2_Missense_Mutation_p.M436V|SYNE2_ENST00000394768.2_Missense_Mutation_p.M3150V|SYNE2_ENST00000555022.1_Missense_Mutation_p.M643V|SYNE2_ENST00000344113.4_Missense_Mutation_p.M6765V|SYNE2_ENST00000441438.2_Missense_Mutation_p.M310V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M6681V|SYNE2_ENST00000554805.1_Missense_Mutation_p.M548V|SYNE2_ENST00000555002.1_Missense_Mutation_p.M3422V|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6765 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCAAGATTTAATGGCCTTGCA 0.428000 15 28 0 0 0.520397 0 0 LRP5 4041 broad.mit.edu 37 11 68174203 68174203 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:68174203C>T ENST00000294304.7 + 9 2119 c.2013C>T c.(2011-2013)ctC>ctT p.L671L NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 671 Beta-propeller 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCATCCCGCTCACGGGCGTCA 0.587000 10 29 0 0 0.361761 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764201 77764201 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:77764201C>G ENST00000521891.2 + 10 5492 c.5044C>G c.(5044-5046)Caa>Gaa p.Q1682E ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1637E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1656E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1637E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1637 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATCTCTGCTCAACCTGCACA 0.403000 HNSCC(33;0.089) 11 43 0 0 0.361761 0 0 MIEN1 84299 broad.mit.edu 37 17 37885818 37885818 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:37885818A>G ENST00000394231.3 - 4 596 c.305T>C c.(304-306)cTa>cCa p.L102P MIEN1_ENST00000577810.1_3'UTR|MIEN1_ENST00000474210.1_5'UTR|ERBB2_ENST00000584888.1_Intron Q9BRT3 CQ037_HUMAN migration and invasion enhancer 1 102 cell redox homeostasis cytosol|membrane selenium binding GATCTTTTCTAGGGTTTCTCC 0.542000 40 190 0 0 0.847076 0 0 FUS 2521 broad.mit.edu 37 16 31202302 31202302 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:31202302A>G ENST00000254108.7 + 14 1517 c.1412A>G c.(1411-1413)gAt>gGt p.D471G FUS_ENST00000568685.1_Missense_Mutation_p.D472G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Missense_Mutation_p.D470G NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 471 Arg/Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) TACGGGGATGATCGTCGTGGT 0.592000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 53 101 0 0 0.870114 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102476256 102476256 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:102476256G>C ENST00000360184.4 + 30 6218 c.6054G>C c.(6052-6054)atG>atC p.M2018I NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2018 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCATCACCATGAACCCTGGCT 0.547000 31 50 0 0 0.788014 0 0 CMYA5 202333 broad.mit.edu 37 5 79030171 79030171 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:79030171G>T ENST00000446378.2 + 2 5614 c.5583G>T c.(5581-5583)ttG>ttT p.L1861F NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1861 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAGAGAATTTGCCTTTGGAAC 0.343000 8 34 2.17888e-05 2.23277e-05 0.335167 1 0 CCND3 896 broad.mit.edu 37 6 42016405 42016405 + Translation_Start_Site SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:42016405C>T ENST00000372988.4 - 0 301 CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000510503.1_De_novo_Start_OutOfFrame|CCND3_ENST00000415497.2_De_novo_Start_OutOfFrame|CCND3_ENST00000511642.1_Intron NM_001136017.2 NP_001129489.1 P30281 CCND3_HUMAN cyclin D3 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCAGTCTCCACCCCTGCAGTG 0.672000 T IGH@ MM 14 22 0 0 0.539581 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 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 CTACCCCTAAAGGGACTGCTC 0.582000 3 136 0 0 0.115264 0 0 MLLT6 4302 broad.mit.edu 37 17 36869255 36869255 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:36869255G>A ENST00000378137.5 + 9 960 c.869G>A c.(868-870)gGg>gAg p.G290E MLLT6_ENST00000325718.7_Intron P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 0 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GGGAGTTTGGGGTGCTGTCTG 0.597000 T MLL AL 63 77 0 0 0.870114 0 0 HOXA10 3206 broad.mit.edu 37 7 27213894 27213894 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:27213894G>A ENST00000283921.4 - 1 31 c.32C>T c.(31-33)tCg>tTg p.S11L RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 11 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 ATAATTTGGCGAAGGGAGCAG 0.587000 46 86 0 0 0.853193 0 0 PRSS8 5652 broad.mit.edu 37 16 31144121 31144121 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:31144121G>A ENST00000317508.6 - 4 683 c.420C>T c.(418-420)ctC>ctT p.L140L PRSS8_ENST00000568261.1_Silent_p.L86L NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 140 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 TGGGTCTGCTGAGTTGGAGGA 0.642000 279 88 0 0 0.870114 0 0 ACPP 55 broad.mit.edu 37 3 132056364 132056364 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:132056364C>T ENST00000336375.5 + 5 611 c.521C>T c.(520-522)tCa>tTa p.S174L ACPP_ENST00000475741.1_Intron|ACPP_ENST00000351273.7_Missense_Mutation_p.S174L NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 174 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 ACTTTGAAATCAGAGGAATTC 0.398000 53 10 0 0 0.870114 0 0 CDC20B 166979 broad.mit.edu 37 5 54410097 54410097 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:54410097C>T ENST00000296733.1 - 12 1671 c.1497G>A c.(1495-1497)cgG>cgA p.R499R CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Silent_p.R503R|CDC20B_ENST00000322374.6_Silent_p.R461R NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 503 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) cagaaaacacccgggtctggt 0.532000 35 74 0 0 0.769981 0 0 GSTA5 221357 broad.mit.edu 37 6 52698951 52698951 + Silent SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:52698951A>C ENST00000370989.2 - 4 431 c.402T>G c.(400-402)ccT>ccG p.P134P GSTA5_ENST00000284562.2_Silent_p.P134P|GSTA5_ENST00000475052.1_5'UTR Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) TTTCAAAGGCAGGGAAGTAGC 0.423000 52 92 0 0 0.870114 0 0 PHACTR2 9749 broad.mit.edu 37 6 143929448 143929448 + Translation_Start_Site SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:143929448T>C ENST00000427704.2 + 1 132 c.2T>C c.(1-3)aTg>aCg p.M1T PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000305766.6_Start_Codon_SNP_p.M1T NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 1 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TCCTGAGACATGGACAACGCC 0.542000 18 31 0 0 0.639603 0 0 AES 166 broad.mit.edu 37 19 3053861 3053861 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:3053861C>T ENST00000221561.8 - 7 930 c.751G>A c.(751-753)Gat>Aat p.D251N AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Missense_Mutation_p.D184N|AES_ENST00000586839.1_Missense_Mutation_p.D128N NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 184 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGTCACCATCGTGCCCGTTC 0.682000 19 83 0 0 0.681144 0 0 SYBU 55638 broad.mit.edu 37 8 110588178 110588178 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:110588178C>G ENST00000399066.3 - 6 1667 c.940G>C c.(940-942)Gag>Cag p.E314Q SYBU_ENST00000424158.2_Missense_Mutation_p.E322Q|SYBU_ENST00000422135.1_Missense_Mutation_p.E317Q|SYBU_ENST00000533065.1_Missense_Mutation_p.E198Q|SYBU_ENST00000440310.1_Missense_Mutation_p.E317Q|SYBU_ENST00000528331.1_Missense_Mutation_p.E198Q|SYBU_ENST00000408889.3_Missense_Mutation_p.E198Q|SYBU_ENST00000446070.2_Missense_Mutation_p.E316Q|SYBU_ENST00000408908.2_Missense_Mutation_p.E317Q|SYBU_ENST00000433638.1_Missense_Mutation_p.E317Q|SYBU_ENST00000276646.9_Missense_Mutation_p.E317Q|SYBU_ENST00000533171.1_Missense_Mutation_p.E317Q|SYBU_ENST00000533895.1_Missense_Mutation_p.E316Q|SYBU_ENST00000529690.1_Missense_Mutation_p.E187Q|SYBU_ENST00000528647.1_Missense_Mutation_p.E316Q|SYBU_ENST00000532779.1_Missense_Mutation_p.E249Q|SYBU_ENST00000529175.1_Missense_Mutation_p.E111Q|SYBU_ENST00000419099.1_Missense_Mutation_p.E316Q NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 317 Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CGGTGACACTCCTCCTCAATC 0.502000 26 73 0 0 0.681144 0 0 MED1 5469 broad.mit.edu 37 17 37563898 37563898 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:37563898G>C ENST00000300651.6 - 17 4799 c.4576C>G c.(4576-4578)Cat>Gat p.H1526D MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1526 Lys-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.H1526Y(1) NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTGATGCTATGAGATTTTTTC 0.428000 HNSCC(31;0.082) 21 83 0 0 0.639603 0 0 CDC73 79577 broad.mit.edu 37 1 193121533 193121533 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:193121533A>G ENST00000367435.3 + 10 1115 c.931A>G c.(931-933)Act>Gct p.T311A NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 311 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 CAAAATTGACACTATGGGAAC 0.333000 12 11 0 0 0.500413 0 0 KIAA1683 80726 broad.mit.edu 37 19 18378333 18378333 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:18378333C>G ENST00000392413.4 - 3 232 c.17G>C c.(16-18)aGa>aCa p.R6T KIAA1683_ENST00000600359.3_5'UTR|KIAA1683_ENST00000600328.3_Missense_Mutation_p.R6T NM_001145304.1 NP_001138776.1 Q9H0B3 K1683_HUMAN KIAA1683 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGGTCAGCTCTGCCTGTGGG 0.652000 88 177 0 0 0.870114 0 0 CCR6 1235 broad.mit.edu 37 6 167550264 167550264 + Silent SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:167550264T>G ENST00000341935.5 + 3 1098 c.546T>G c.(544-546)acT>acG p.T182T CCR6_ENST00000349984.4_Silent_p.T182T|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.T182T NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 182 T -> S (in Ref. 4; AAB06949). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) CCAGCTCAACTTTTGTCTTCA 0.517000 35 40 0 0 0.804634 0 0 PRX 57716 broad.mit.edu 37 19 40909668 40909668 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:40909668G>A ENST00000291825.7 - 5 397 c.129C>T c.(127-129)ttC>ttT p.F43F PRX_ENST00000324001.7_Silent_p.F43F NM_020956.2 NP_066007.1 Q9BXM0 PRAX_HUMAN periaxin 43 PDZ. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTCCCGAACGAAGATTCCCT 0.701000 5 15 0 0 0.217242 0 0 HUWE1 10075 broad.mit.edu 37 X 53672365 53672365 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chrX:53672365G>A ENST00000342160.3 - 6 859 c.402C>T c.(400-402)gtC>gtT p.V134V HUWE1_ENST00000218328.8_Silent_p.V134V|HUWE1_ENST00000262854.6_Silent_p.V134V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 134 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GGAGATTGAGGACTGCCAGCA 0.458000 17 8 0 0 0.575678 0 0 ALG5 29880 broad.mit.edu 37 13 37563687 37563687 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:37563687A>G ENST00000239891.3 - 5 447 c.381T>C c.(379-381)taT>taC p.Y127Y ALG5_ENST00000443765.1_Silent_p.Y97Y|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Silent_p.Y127Y NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 127 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) TGTCACTTCCATATTTCTGGC 0.284000 19 34 0 0 0.639603 0 0 MED15 51586 broad.mit.edu 37 22 20909319 20909319 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr22:20909319G>A ENST00000263205.7 + 5 404 c.335G>A c.(334-336)gGg>gAg p.G112E MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.G112E|MED15_ENST00000406969.1_Missense_Mutation_p.G86E|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Missense_Mutation_p.G86E NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 112 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TCTCTGGGCGGGATGGGTAGC 0.647000 3 58 0 0 0.150653 0 0 ZNF214 7761 broad.mit.edu 37 11 7022651 7022651 + Missense_Mutation SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:7022651T>G ENST00000278314.4 - 3 578 c.263A>C c.(262-264)cAa>cCa p.Q88P ZNF214_ENST00000536068.1_Missense_Mutation_p.Q88P NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) ATCTGTCCCTTGAACAGTTTC 0.438000 122 166 0 0 0.870114 0 0 OR4C46 119749 broad.mit.edu 37 11 51515382 51515382 + Missense_Mutation SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:51515382T>G ENST00000328188.1 + 1 101 c.101T>G c.(100-102)aTc>aGc p.I34S NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GTCATCTATATCATCACTGTG 0.433000 51 86 0 0 0.870114 0 0 CD6 923 broad.mit.edu 37 11 60777201 60777201 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:60777201G>A ENST00000313421.7 + 5 1125 c.939G>A c.(937-939)gaG>gaA p.E313E CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Silent_p.E313E|CD6_ENST00000344028.5_Silent_p.E313E|CD6_ENST00000352009.5_Silent_p.E313E|CD6_ENST00000452451.2_Silent_p.E313E NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 313 SRCR 3. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 CTGCGGTTGAGAGGCCCAAGG 0.592000 29 54 0 0 0.769981 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424411 47424411 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:47424411G>A ENST00000404338.3 + 1 2479 c.2479G>A c.(2479-2481)Gga>Aga p.G827R NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 827 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity ACTACCAATCGGACTGCACAA 0.408000 23 33 0 0 0.681144 0 0 TRIO 7204 broad.mit.edu 37 5 14507245 14507245 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:14507245G>A ENST00000344204.4 + 56 8651 c.8627G>A c.(8626-8628)cGc>cAc p.R2876H TRIO_ENST00000344135.5_Missense_Mutation_p.R375H|TRIO_ENST00000537187.1_Missense_Mutation_p.R2700H NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2876 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GACCAGGGTCGCCTCCTGGAC 0.567000 15 53 0 0 0.520397 0 0 SLC4A5 57835 broad.mit.edu 37 2 74462335 74462335 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:74462335C>A ENST00000394019.2 - 22 2723 c.2326G>T c.(2326-2328)Gcc>Tcc p.A776S SLC4A5_ENST00000423644.1_Missense_Mutation_p.A776S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A776S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A776S|SLC4A5_ENST00000359484.4_Intron|SLC4A5_ENST00000377634.4_Missense_Mutation_p.A776S|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.A776S NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 776 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GCCACCAGGGCCCGGACCTGC 0.532000 20 10 1.96292e-10 2.08516e-10 0.592651 1 0 ZNF536 9745 broad.mit.edu 37 19 31039640 31039640 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:31039640A>G ENST00000355537.3 + 4 3261 c.3114A>G c.(3112-3114)acA>acG p.T1038T NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1038 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCGGGGTCACAGTCAACTGCA 0.537000 32 104 0 0 0.779181 0 0 OR7G2 390882 broad.mit.edu 37 19 9213857 9213857 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:9213857C>T ENST00000305456.2 - 1 125 c.126G>A c.(124-126)ccG>ccA p.P42P NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GCTGCAGTTCCGGATCCTCTA 0.468000 30 94 0 0 0.788014 0 0 SPTAN1 6709 broad.mit.edu 37 9 131388155 131388155 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:131388155C>T ENST00000372739.3 + 48 6287 c.6177C>T c.(6175-6177)atC>atT p.I2059I SPTAN1_ENST00000372731.4_Silent_p.I2054I|SPTAN1_ENST00000358161.5_Silent_p.I2059I NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2054 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CCAAGGCCATCGAGGCCCGGC 0.602000 73 132 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179397839 179397839 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:179397839C>G ENST00000589042.1 - 358 103727 c.103503G>C c.(103501-103503)gaG>gaC p.E34501D TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25561D|TTN_ENST00000460472.2_Missense_Mutation_p.E25436D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25628D|TTN_ENST00000591111.1_Missense_Mutation_p.E32860D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31933D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32860 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTCAGAGCCTCTTTAGCTA 0.428000 37 60 0 0 0.834066 0 0 MOGAT3 346606 broad.mit.edu 37 7 100841559 100841559 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:100841559G>A ENST00000223114.4 - 5 747 c.581C>T c.(580-582)gCg>gTg p.A194V MOGAT3_ENST00000379423.3_Missense_Mutation_p.A194V|MOGAT3_ENST00000440203.2_Missense_Mutation_p.A194V NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 194 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GGCCTCGTGCGCACCCCCCAC 0.677000 70 23 0 0 0.870114 0 0 KRT79 338785 broad.mit.edu 37 12 53215788 53215788 + Silent SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:53215788C>G ENST00000330553.5 - 9 1510 c.1476G>C c.(1474-1476)ggG>ggC p.G492G NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 492 Tail. keratin filament structural molecule activity p.G492G(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCCCCCCACTCCCACCCAGGG 0.612000 39 55 0 0 0.847076 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50659212 50659212 + Silent SNP A A G rs141527317 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr22:50659212A>G ENST00000439308.2 - 16 4068 c.3576T>C c.(3574-3576)tcT>tcC p.S1192S TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1192 9 X 27 AA tandem repeats. G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCTGGCATCAGACACGTGTC 0.617000 4 121 0 0 0.217242 0 0 BIN2 51411 broad.mit.edu 37 12 51707619 51707619 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:51707619G>A ENST00000267012.4 - 2 211 c.150C>T c.(148-150)ttC>ttT p.F50F BIN2_ENST00000544402.1_Silent_p.F24F|BIN2_ENST00000452142.2_Silent_p.F50F|BIN2_ENST00000604560.1_Intron NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 50 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GTTGTTGGTAGAAGTTGCTAG 0.468000 34 43 0 0 0.827153 0 0 FOLH1B 219595 broad.mit.edu 37 11 89385754 89385754 + RNA SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:89385754G>A ENST00000532352.1 + 0 391 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CTCTCCTCAAGGAATGCCAGA 0.368000 8 27 0 0 0.361761 0 0 SPATA19 219938 broad.mit.edu 37 11 133715054 133715054 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:133715054G>C ENST00000299140.3 - 2 164 c.110C>G c.(109-111)tCt>tGt p.S37C SPATA19_ENST00000532889.1_Missense_Mutation_p.S37C NM_174927.1 NP_777587.1 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 37 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1) 11 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) ATGTAGTACAGACACAGCCTC 0.458000 34 60 0 0 0.859065 0 0 ZNF626 199777 broad.mit.edu 37 19 20807986 20807986 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:20807986C>G ENST00000601440.1 - 4 843 c.697G>C c.(697-699)Gaa>Caa p.E233Q CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TTGCCACATTCTTCACATTTG 0.398000 11 41 0 0 0.457914 0 0 PIWIL1 9271 broad.mit.edu 37 12 130834457 130834457 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:130834457G>A ENST00000245255.3 + 9 1261 c.989G>A c.(988-990)aGc>aAc p.S330N NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 330 PAZ. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) AATCCCAAGAGCACCTTTAAG 0.408000 14 46 0 0 0.520397 0 0 DSPP 1834 broad.mit.edu 37 4 88534106 88534106 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:88534106C>T ENST00000399271.1 + 4 888 c.768C>T c.(766-768)gaC>gaT p.D256D DSPP_ENST00000282478.7_Silent_p.D256D|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 256 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AGGATGAAGACGAGGGTTCTG 0.507000 13 27 0 0 0.479597 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1841803 1841803 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:1841803G>A ENST00000518288.1 + 13 1489 c.1326G>A c.(1324-1326)agG>agA p.R442R ARHGEF10_ENST00000262112.6_Silent_p.R442R|ARHGEF10_ENST00000398564.1_Silent_p.R442R|ARHGEF10_ENST00000398560.1_Silent_p.R403R|ARHGEF10_ENST00000349830.3_Silent_p.R417R|ARHGEF10_ENST00000520359.1_Silent_p.R379R O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 442 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CTCTTAAGAGGATTTTGGAGG 0.313000 13 42 0 0 0.479597 0 0 PBX2 5089 broad.mit.edu 37 6 32157485 32157485 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:32157485C>T ENST00000375050.4 - 1 478 c.208G>A c.(208-210)Gag>Aag p.E70K NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 70 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GCCTGGGCCTCGTCCAGGCTC 0.647000 31 34 0 0 0.840704 0 0 DPP10 57628 broad.mit.edu 37 2 116066873 116066873 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:116066873T>A ENST00000410059.1 + 2 599 c.119T>A c.(118-120)cTg>cAg p.L40Q DPP10_ENST00000393147.2_Missense_Mutation_p.L44Q|DPP10_ENST00000310323.8_Missense_Mutation_p.L33Q|DPP10_ENST00000409163.1_5'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 40 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATTGCTCTGCTGGTGATTTTA 0.408000 28 28 0 0 0.804634 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806241 97806241 + Silent SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:97806241T>G ENST00000358642.2 + 1 225 c.225T>G c.(223-225)acT>acG p.T75T NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATGCTTGTACTTCAACCTCTA 0.428000 46 125 0 0 0.870114 0 0 MLST8 64223 broad.mit.edu 37 16 2256159 2256159 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:2256159C>G ENST00000569417.1 + 2 427 c.73C>G c.(73-75)Cgc>Ggc p.R25G MLST8_ENST00000397124.1_Missense_Mutation_p.R25G|MLST8_ENST00000301724.10_Missense_Mutation_p.R25G|MLST8_ENST00000564088.1_Missense_Mutation_p.R25G|MLST8_ENST00000565250.1_Missense_Mutation_p.R25G|MLST8_ENST00000382450.4_Missense_Mutation_p.R25G|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301725.7_Missense_Mutation_p.R44G NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 25 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 CCACACCGTGCGCTTCTGGCA 0.706000 46 64 0 0 0.870114 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40823016 40823016 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:40823016C>G ENST00000591022.1 - 9 1804 c.1417G>C c.(1417-1419)Gag>Cag p.E473Q PLEKHH3_ENST00000456950.2_Intron|PLEKHH3_ENST00000412503.1_Intron|PLEKHH3_ENST00000293349.6_Intron NM_024927.4 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 473 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) ATTTACTTCTCAAACCTGGTG 0.637000 69 252 0 0 0.870114 0 0 FSTL5 56884 broad.mit.edu 37 4 162421208 162421208 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:162421208T>C ENST00000306100.5 - 12 1854 c.1418A>G c.(1417-1419)cAg>cGg p.Q473R FSTL5_ENST00000379164.4_Missense_Mutation_p.Q472R|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q463R|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q472R NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 473 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AATGTGCCTCTGAAATTCACA 0.338000 7 2 0 0 0.278610 0 0 NUP93 9688 broad.mit.edu 37 16 56870618 56870618 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:56870618G>A ENST00000564887.1 + 15 2148 c.1519G>A c.(1519-1521)Gac>Aac p.D507N NUP93_ENST00000569842.1_Missense_Mutation_p.D630N|NUP93_ENST00000542526.1_Missense_Mutation_p.D507N|NUP93_ENST00000308159.5_Missense_Mutation_p.D630N NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 630 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 AAAGCTGTATGACCTTGCCAA 0.428000 14 20 0 0 0.500413 0 0 OR5D18 219438 broad.mit.edu 37 11 55587569 55587569 + Nonsense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:55587569C>A ENST00000333976.4 + 1 484 c.464C>A c.(463-465)tCa>tAa p.S155* NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TGGGGAGTCTCATGTTCCTTG 0.478000 42 70 3.50607e-19 3.80809e-19 0.870114 1 0 USP14 9097 broad.mit.edu 37 18 179002 179002 + Missense_Mutation SNP G G A rs141269921 by1000genomes TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:179002G>A ENST00000261601.7 + 4 356 c.265G>A c.(265-267)Gta>Ata p.V89I USP14_ENST00000400266.3_Missense_Mutation_p.V78I|USP14_ENST00000383589.2_Intron|USP14_ENST00000582707.1_Intron NM_005151.3 NP_005142.1 P54578 UBP14_HUMAN ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2) 11 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) AACTGTCTTCGTAGAAGACAT 0.373000 25 22 0 0 0.750413 0 0 CCNL2 81669 broad.mit.edu 37 1 1325721 1325721 + Nonsense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:1325721C>A ENST00000400809.3 - 8 900 c.895G>T c.(895-897)Gaa>Taa p.E299* CCNL2_ENST00000408952.5_Nonsense_Mutation_p.E77*|CCNL2_ENST00000505849.1_5'UTR NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 299 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TTTCTTTTTTCCACTTCACCC 0.552000 35 56 1.59361e-14 1.71165e-14 0.827153 1 0 PLIN3 10226 broad.mit.edu 37 19 4852049 4852049 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:4852049G>A ENST00000221957.4 - 5 789 c.613C>T c.(613-615)Ccc>Tcc p.P205S PLIN3_ENST00000592528.1_Missense_Mutation_p.P193S|PLIN3_ENST00000585479.1_Missense_Mutation_p.P205S NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 205 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) TCCGTAAGGGGCAGGTGGTTG 0.682000 OREG0025175 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 81 0 0 0.639603 0 0 ABCC10 89845 broad.mit.edu 37 6 43400684 43400684 + Silent SNP C C T rs145760020 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:43400684C>T ENST00000244533.3 + 1 1196 c.837C>T c.(835-837)caC>caT p.H279H ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.H322H NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 322 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CACTAAGCCACGGCCTGCTCT 0.587000 34 57 0 0 0.819951 0 0 MUC16 94025 broad.mit.edu 37 19 9072253 9072253 + Missense_Mutation SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:9072253A>C ENST00000397910.4 - 3 15396 c.15193T>G c.(15193-15195)Tcc>Gcc p.S5065A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5067 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATAGGAGAGGAGAGCTTATCC 0.478000 65 18 0 0 0.870114 0 0 OTOGL 283310 broad.mit.edu 37 12 80660235 80660235 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:80660235G>A ENST00000458043.2 + 20 2208 c.2202G>A c.(2200-2202)gtG>gtA p.V734V OTOGL_ENST00000547103.1_Silent_p.V734V NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CCTTAGCTGTGGTGTGCCAGA 0.473000 19 22 0 0 0.624587 0 0 KIT 3815 broad.mit.edu 37 4 55564535 55564535 + Silent SNP A A T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:55564535A>T ENST00000288135.5 + 3 520 c.423A>T c.(421-423)ccA>ccT p.P141P NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 141 Ig-like C2-type 2. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TCACAGACCCAGAAGTGACCA 0.512000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 12 29 0 0 0.479597 0 0 PROM1 8842 broad.mit.edu 37 4 16077403 16077403 + Missense_Mutation SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:16077403T>G ENST00000505450.1 - 2 739 c.127A>C c.(127-129)Acc>Ccc p.T43P PROM1_ENST00000539194.1_Missense_Mutation_p.T43P|PROM1_ENST00000540805.1_Missense_Mutation_p.T43P|PROM1_ENST00000543373.1_Missense_Mutation_p.T43P|PROM1_ENST00000447510.2_Missense_Mutation_p.T43P|PROM1_ENST00000510224.1_Missense_Mutation_p.T43P|PROM1_ENST00000508167.1_Missense_Mutation_p.T43P NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 43 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 GAGTCTTGGGTCTCATAATTT 0.488000 17 0 0 0 0.557998 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409117 17409117 + Silent SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:17409117G>T ENST00000339994.4 - 1 1089 c.522C>A c.(520-522)gcC>gcA p.A174A KCNJ11_ENST00000528731.1_Silent_p.A87A NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 87 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CCCTGCGGTGGGCTTGGGCAG 0.597000 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 21 3.62473e-10 3.8364e-10 0.608945 1 0 TMEM56 148534 broad.mit.edu 37 1 95609471 95609471 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:95609471C>G ENST00000370203.4 + 2 305 c.14C>G c.(13-15)aCa>aGa p.T5R RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.T5R|TMEM56_ENST00000463375.1_3'UTR NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 5 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) GAGATCAACACAAAACTGCTC 0.313000 17 16 0 0 0.624587 0 0 RBM26 64062 broad.mit.edu 37 13 79942951 79942951 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:79942951C>A ENST00000438737.2 - 6 1249 c.809G>T c.(808-810)aGt>aTt p.S270I RBM26_ENST00000267229.7_Missense_Mutation_p.S270I|RBM26_ENST00000438724.1_Missense_Mutation_p.S270I Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 270 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TTCAGACCAACTTTCGGTAGT 0.433000 37 67 9.14704e-12 9.75236e-12 0.840704 1 0 PGC 5225 broad.mit.edu 37 6 41708252 41708252 + Silent SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:41708252G>C ENST00000373025.3 - 6 806 c.744C>G c.(742-744)ctC>ctG p.L248L NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 248 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TCTGCCAGTAGAGTTCCTGGG 0.617000 64 87 0 0 0.870114 0 0 ATP13A3 79572 broad.mit.edu 37 3 194147857 194147857 + Silent SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:194147857A>C ENST00000439040.1 - 29 3863 c.3072T>G c.(3070-3072)ggT>ggG p.G1024G ATP13A3_ENST00000256031.4_Silent_p.G1024G Q9H7F0 AT133_HUMAN ATPase type 13A3 1024 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.G1024G(1) NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CCCAAAAAAAACCCAAAGATT 0.388000 40 10 0 0 0.864702 0 0 MAP4 4134 broad.mit.edu 37 3 47913544 47913544 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:47913544T>A ENST00000426837.2 - 13 5891 c.5804A>T c.(5803-5805)aAg>aTg p.K1935M MAP4_ENST00000383737.4_Missense_Mutation_p.K518M|MAP4_ENST00000264724.11_Missense_Mutation_p.K525M|MAP4_ENST00000360240.6_Missense_Mutation_p.K790M|MAP4_ENST00000395734.3_Missense_Mutation_p.K790M|MAP4_ENST00000462206.1_5'UTR|MAP4_ENST00000420772.2_Missense_Mutation_p.K541M|MAP4_ENST00000441748.2_De_novo_Start_InFrame P27816 MAP4_HUMAN microtubule-associated protein 4 790 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) AGAAGCTGGCTTGGATGGTGA 0.562000 98 150 0 0 0.870114 0 0 GALNT2 2590 broad.mit.edu 37 1 230398367 230398367 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:230398367C>G ENST00000366672.4 + 12 1257 c.1185C>G c.(1183-1185)ttC>ttG p.F395L GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.F357L NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 395 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACAAAAATTTCTATTATGCAG 0.448000 65 146 0 0 0.870114 0 0 GPR32 2854 broad.mit.edu 37 19 51274466 51274466 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:51274466G>C ENST00000270590.4 + 1 746 c.609G>C c.(607-609)caG>caC p.Q203H NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 203 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) AGACTGCCCAGATTTGGATTG 0.552000 57 13 0 0 0.870114 0 0 ARPP21 10777 broad.mit.edu 37 3 35731587 35731587 + Missense_Mutation SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:35731587T>G ENST00000187397.4 + 8 956 c.500T>G c.(499-501)cTt>cGt p.L167R ARPP21_ENST00000337271.5_Missense_Mutation_p.L167R|ARPP21_ENST00000417925.1_Missense_Mutation_p.L167R|ARPP21_ENST00000444190.1_Missense_Mutation_p.L167R|ARPP21_ENST00000458225.1_Missense_Mutation_p.L167R NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 167 R3H. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AGGATGATACTTTTGAAAATG 0.294000 9 21 0 0 0.307466 0 0 FLNB 2317 broad.mit.edu 37 3 58062849 58062849 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:58062849C>T ENST00000357272.4 + 2 534 c.369C>T c.(367-369)atC>atT p.I123I FLNB_ENST00000429972.2_Silent_p.I123I|FLNB_ENST00000348383.5_Silent_p.I123I|FLNB_ENST00000358537.3_Silent_p.I123I|FLNB_ENST00000490882.1_Silent_p.I123I|FLNB_ENST00000295956.4_Silent_p.I123I O75369 FLNB_HUMAN filamin B, beta 123 Actin-binding. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACTACTCCATCTCCATGCCCG 0.552000 37 60 0 0 0.834066 0 0 INPP5A 3632 broad.mit.edu 37 10 134591246 134591246 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr10:134591246G>A ENST00000368594.3 + 13 1326 c.1049G>A c.(1048-1050)cGc>cAc p.R350H INPP5A_ENST00000368593.3_Missense_Mutation_p.R350H NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 350 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TGGTGTGACCGCATCCTCATG 0.652000 36 56 0 0 0.834066 0 0 POTEG 404785 broad.mit.edu 37 14 19553758 19553758 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:19553758G>C ENST00000409832.3 + 1 394 c.342G>C c.(340-342)aaG>aaC p.K114N NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 114 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GGAGCGGCAAGAGCAAAGTGG 0.597000 72 792 0 0 0.870114 0 0 MYH4 4622 broad.mit.edu 37 17 10364372 10364372 + Splice_Site SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:10364372C>G ENST00000255381.2 - 12 1119 c.e12-1 CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CCACAGCACTCTGTCAAAAGA 0.473000 22 103 0 0 0.740014 0 0 ARID1A 8289 broad.mit.edu 37 1 27106492 27106492 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:27106492G>A ENST00000324856.7 + 20 6474 c.6103G>A c.(6103-6105)Gag>Aag p.E2035K ARID1A_ENST00000540690.1_Missense_Mutation_p.E363K|ARID1A_ENST00000374152.2_Missense_Mutation_p.E1652K|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1818K NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2035 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGAAAAGGAGGAGGAACAGGA 0.557000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 49 69 0 0 0.870114 0 0 TAZ 6901 broad.mit.edu 37 X 153648555 153648555 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chrX:153648555G>A ENST00000299328.5 + 9 940 c.651G>A c.(649-651)atG>atA p.M217I TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000351413.4_Missense_Mutation_p.M203I|TAZ_ENST00000369790.4_Missense_Mutation_p.M173I|TAZ_ENST00000369776.4_Missense_Mutation_p.M187I|TAZ_ENST00000350743.4_Missense_Mutation_p.M187I|TAZ_ENST00000475699.1_Missense_Mutation_p.M190I NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 217 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCAGGAATGAATGACGTCC 0.637000 186 52 0 0 0.870114 0 0 TSC22D1 8848 broad.mit.edu 37 13 45147390 45147390 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:45147390C>T ENST00000458659.2 - 1 3311 c.2821G>A c.(2821-2823)Ggg>Agg p.G941R TSC22D1_ENST00000460842.1_5'UTR|TSC22D1_ENST00000501704.2_Intron NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 941 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) CTGCTACTCCCATCTGAAACT 0.547000 30 16 0 0 0.750413 0 0 EVI5L 115704 broad.mit.edu 37 19 7918186 7918186 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:7918186G>C ENST00000270530.4 + 10 1309 c.1113G>C c.(1111-1113)aaG>aaC p.K371N EVI5L_ENST00000538904.2_Missense_Mutation_p.K371N NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 371 intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 CAGCCATGAAGAGCAAGGAGA 0.627000 OREG0025211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 0.278610 0 0 SDHAP1 255812 broad.mit.edu 37 3 195717090 195717090 + RNA SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:195717090G>A ENST00000427841.1 - 0 60 NR_003264.2 GCCAGGCGCCGAGCGCTTGGC 0.776000 6 19 0 0 0.335167 0 0 MAEL 84944 broad.mit.edu 37 1 166973535 166973535 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:166973535C>T ENST00000367872.4 + 6 886 c.642C>T c.(640-642)taC>taT p.Y214Y MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.Y183Y NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 214 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 CACCTATCTACTGCAAGGTAA 0.343000 5 31 0 0 0.278610 0 0 TNS1 7145 broad.mit.edu 37 2 218699859 218699859 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:218699859C>T ENST00000171887.4 - 19 3312 c.2860G>A c.(2860-2862)Gag>Aag p.E954K TNS1_ENST00000430930.1_Missense_Mutation_p.E954K|TNS1_ENST00000419504.1_Missense_Mutation_p.E954K NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 954 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCCATCTCCTCGAAGGCCTCC 0.572000 38 13 0 0 0.864702 0 0 ABCA8 10351 broad.mit.edu 37 17 66913593 66913593 + Splice_Site SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:66913593C>T ENST00000269080.2 - 15 2065 c.e15-1 ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ACTTTCCTGTCTGAAAAAGAA 0.373000 19 66 0 0 0.557998 0 0 SLC9C2 284525 broad.mit.edu 37 1 173517647 173517647 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:173517647C>G ENST00000367714.3 - 12 1764 c.1342G>C c.(1342-1344)Gcc>Ccc p.A448P SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.A346P NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 448 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TGCTGAGTGGCATTTTGCAAG 0.363000 14 26 0 0 0.539581 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 12 29 0 0 0.457914 0 0 FCHO1 23149 broad.mit.edu 37 19 17892531 17892531 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:17892531G>A ENST00000594202.1 + 23 2118 c.1839G>A c.(1837-1839)cgG>cgA p.R613R FCHO1_ENST00000596951.1_Silent_p.R613R|FCHO1_ENST00000596536.1_Silent_p.R613R|FCHO1_ENST00000595033.1_Silent_p.R563R|FCHO1_ENST00000389133.4_Silent_p.R613R|FCHO1_ENST00000600676.1_Silent_p.R613R|FCHO1_ENST00000597512.1_Silent_p.R620R|FCHO1_ENST00000252771.7_Silent_p.R613R|FCHO1_ENST00000539407.1_Silent_p.R613R NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 613 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 GAGTCTCCCGGGGTCCGAGCC 0.627000 214 45 0 0 0.870114 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181275 57181275 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:57181275C>T ENST00000504228.1 + 6 1712 c.1607C>T c.(1606-1608)cCc>cTc p.P536L KIAA1211_ENST00000541073.1_Missense_Mutation_p.P529L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P536L Q6ZU35 K1211_HUMAN KIAA1211 536 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ATGCCCCGGCCCTACACGTTC 0.642000 15 6 0 0 0.575678 0 0 PLEC 5339 broad.mit.edu 37 8 145049425 145049425 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:145049425C>T ENST00000436759.2 - 2 150 c.113G>A c.(112-114)cGg>cAg p.R38Q PLEC_ENST00000527096.1_Missense_Mutation_p.R38Q NM_000445.3 NP_000436.2 Q15149 PLEC_HUMAN plectin 141 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCGCCGGCTCCGCTGCGTTTT 0.667000 OREG0019050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 73 0 0 0.870114 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1978971 1978971 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:1978971C>G ENST00000255641.8 + 6 1056 c.561C>G c.(559-561)atC>atG p.I187M NM_001319.6 NP_001310.3 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 187 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCACATCATCGACTTCGGGC 0.617000 35 82 0 0 0.827153 0 0 COL5A1 1289 broad.mit.edu 37 9 137717708 137717708 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:137717708C>T ENST00000371817.3 + 63 5439 c.5025C>T c.(5023-5025)gcC>gcT p.A1675A NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1675 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.A1675A(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACTTCACAGCCGGGGGGTCGA 0.592000 29 61 0 0 0.779181 0 0 PRG4 10216 broad.mit.edu 37 1 186276169 186276169 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:186276169C>A ENST00000445192.2 + 7 1363 c.1318C>A c.(1318-1320)Ccc>Acc p.P440T PRG4_ENST00000367483.4_Missense_Mutation_p.P399T|PRG4_ENST00000367486.3_Missense_Mutation_p.P397T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P347T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 440 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 p.P440T(1) 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 ACCCACCACCCCCAAGAAGCC 0.652000 5 99 0.000602214 0.000608509 0.184627 1 0 BRD2 6046 broad.mit.edu 37 6 32944130 32944130 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:32944130C>T ENST00000395289.2 + 6 2315 c.714C>T c.(712-714)ctC>ctT p.L238L BRD2_ENST00000395287.1_Silent_p.L238L|BRD2_ENST00000374831.4_Silent_p.L238L|BRD2_ENST00000443797.2_Silent_p.L118L|BRD2_ENST00000374825.4_Silent_p.L238L|BRD2_ENST00000449085.2_Silent_p.L191L P25440 BRD2_HUMAN bromodomain containing 2 238 L -> F (in dbSNP:rs176250). spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CCACTGTCCTCAACATTCCCC 0.567000 37 72 0 0 0.853193 0 0 GPX3 2878 broad.mit.edu 37 5 150407000 150407000 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:150407000C>T ENST00000388825.4 + 4 459 c.367C>T c.(367-369)Cga>Tga p.R123* GPX3_ENST00000517973.1_Silent_p.S71S NM_002084.3 NP_002075.2 P22352 GPX3_HUMAN glutathione peroxidase 3 (plasma) 123 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding p.R123G(1) kidney(1)|large_intestine(3)|lung(1)|skin(1) 6 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CAGGTATGTCCGACCAGGTGG 0.493000 23 59 0 0 0.681144 0 0 CDCA2 157313 broad.mit.edu 37 8 25364307 25364307 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:25364307G>A ENST00000330560.3 + 15 2602 c.2125G>A c.(2125-2127)Gac>Aac p.D709N CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.D694N NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 709 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGCTGGAACTGACAGTCCTGT 0.373000 6 12 0 0 0.278610 0 0 COL5A1 1289 broad.mit.edu 37 9 137734025 137734025 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:137734025C>T ENST00000371817.3 + 66 5807 c.5393C>T c.(5392-5394)aCg>aTg p.T1798M NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1798 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TACCAGAAGACGGTTCTGGAG 0.522000 10 59 0 0 0.411799 0 0 ANO3 63982 broad.mit.edu 37 11 26655840 26655840 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:26655840T>C ENST00000256737.3 + 19 2815 c.1963T>C c.(1963-1965)Tat>Cat p.Y655H ANO3_ENST00000537978.1_Missense_Mutation_p.Y639H|ANO3_ENST00000531568.1_Missense_Mutation_p.Y509H|ANO3_ENST00000525139.1_Missense_Mutation_p.Y639H NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 655 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TTCCATCTTCTATATCGCTTT 0.368000 10 11 0 0 0.361761 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42860419 42860419 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr21:42860419G>C ENST00000398585.3 - 5 518 c.458C>G c.(457-459)tCt>tGt p.S153C TMPRSS2_ENST00000332149.5_Missense_Mutation_p.S116C|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.S116C|TMPRSS2_ENST00000497881.1_Intron NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 116 SRCR. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CTCTATCCCAGAGTTGGAGCA 0.572000 T """ERG, ETV1, ETV4, ETV5""" prostate 38 12 0 0 0.804634 0 0 DNAH10 196385 broad.mit.edu 37 12 124345628 124345628 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:124345628C>T ENST00000409039.3 + 38 6490 c.6465C>T c.(6463-6465)atC>atT p.I2155I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2155 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCTACGGCATCCTGGACCCAA 0.488000 31 36 0 0 0.779181 0 0 ZNF335 63925 broad.mit.edu 37 20 44596540 44596540 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:44596540G>A ENST00000322927.2 - 5 747 c.647C>T c.(646-648)cCg>cTg p.P216L ZNF335_ENST00000426788.1_Missense_Mutation_p.P61L|ZNF335_ENST00000494955.1_5'UTR NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CAGCTGCACCGGGGAGCTGGG 0.647000 36 121 0 0 0.804634 0 0 CSDE1 7812 broad.mit.edu 37 1 115261332 115261332 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:115261332C>T ENST00000438362.2 - 19 2767 c.2389G>A c.(2389-2391)Gat>Aat p.D797N CSDE1_ENST00000483407.1_5'UTR|CSDE1_ENST00000261443.5_Missense_Mutation_p.D720N|CSDE1_ENST00000530886.1_Missense_Mutation_p.D621N|CSDE1_ENST00000369530.1_Missense_Mutation_p.D766N|CSDE1_ENST00000339438.6_Missense_Mutation_p.D720N|CSDE1_ENST00000534699.1_Missense_Mutation_p.D751N|CSDE1_ENST00000358528.4_Missense_Mutation_p.D751N NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 751 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCAACCGATCAGGTCGAGGA 0.502000 12 31 0 0 0.435327 0 0 MIR17HG 407975 broad.mit.edu 37 13 92003372 92003372 + RNA SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:92003372G>C ENST00000362279.1 + 0 54 NR_029492.1 ACTGCATTATGAGCACTTAAA 0.433000 26 120 0 0 0.706142 0 0 EGFL7 51162 broad.mit.edu 37 9 139565433 139565433 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:139565433G>A ENST00000371699.1 + 8 1514 c.603G>A c.(601-603)caG>caA p.Q201Q EGFL7_ENST00000371698.3_Silent_p.Q201Q|EGFL7_ENST00000406555.3_Silent_p.Q201Q|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Silent_p.Q201Q Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 201 angiogenesis|vasculogenesis calcium ion binding kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) AAGAAGTGCAGAGGCTGCAGT 0.697000 4 5 0 0 0.184627 0 0 STXBP1 6812 broad.mit.edu 37 9 130422312 130422312 + Missense_Mutation SNP G G A rs34830702 byFrequency TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:130422312G>A ENST00000373302.3 + 5 389 c.250G>A c.(250-252)Gtc>Atc p.V84I STXBP1_ENST00000373299.1_Missense_Mutation_p.V84I NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 84 V -> D (in EIEE4; may alter protein structure). axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 TCCACAGTCCGTCCACTCTCT 0.507000 20 51 0 0 0.654019 0 0 ABCC9 10060 broad.mit.edu 37 12 22059097 22059097 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:22059097A>G ENST00000261200.4 - 10 1580 c.1581T>C c.(1579-1581)tcT>tcC p.S527S ABCC9_ENST00000345162.2_Silent_p.S527S|ABCC9_ENST00000261201.4_Silent_p.S527S NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 527 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTTGAGACTAGATAGTTCTT 0.368000 18 45 0 0 0.693898 0 0 RBM47 54502 broad.mit.edu 37 4 40440104 40440104 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:40440104G>A ENST00000319592.4 - 4 1516 c.807C>T c.(805-807)ttC>ttT p.F269F RBM47_ENST00000381793.2_Silent_p.F269F|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.F231F|RBM47_ENST00000381795.6_Silent_p.F269F|RBM47_ENST00000295971.7_Silent_p.F269F A0AV96 RBM47_HUMAN RNA binding motif protein 47 269 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 AGCCGGGGTTGAACTGGCCGA 0.592000 41 52 0 0 0.847076 0 0 MICAL2 9645 broad.mit.edu 37 11 12247845 12247845 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:12247845G>A ENST00000256194.4 + 14 2104 c.1816G>A c.(1816-1818)Gac>Aac p.D606N MICAL2_ENST00000342902.5_Missense_Mutation_p.D606N|MICAL2_ENST00000379612.3_Missense_Mutation_p.D606N|MICAL2_ENST00000537344.1_Missense_Mutation_p.D606N|MICAL2_ENST00000527546.1_Missense_Mutation_p.D606N NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 606 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CCAGGAGCCTGACAAGCTCAG 0.572000 30 57 0 0 0.750413 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181322 57181322 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:57181322A>G ENST00000504228.1 + 6 1759 c.1654A>G c.(1654-1656)Aaa>Gaa p.K552E KIAA1211_ENST00000541073.1_Missense_Mutation_p.K545E|KIAA1211_ENST00000264229.6_Missense_Mutation_p.K552E Q6ZU35 K1211_HUMAN KIAA1211 552 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TCTCTTTCCCAAAGTCAACCT 0.652000 13 1 0 0 0.457914 0 0 COL5A1 1289 broad.mit.edu 37 9 137709646 137709646 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:137709646C>A ENST00000371817.3 + 54 4613 c.4199C>A c.(4198-4200)cCc>cAc p.P1400H NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1400 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCGCAGGCCCCGAAGGCAGA 0.662000 9 5 2.80697e-09 2.96008e-09 0.387290 1 0 C15orf56 644809 broad.mit.edu 37 15 40544683 40544683 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr15:40544683A>G ENST00000319503.3 - 2 310 c.289T>C c.(289-291)Tgt>Cgt p.C97R PAK6_ENST00000560346.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_Intron NM_001039905.1 NP_001034994.1 Q8N910 CO056_HUMAN chromosome 15 open reading frame 56 97 lung(1) 1 all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503) CCCCAGCGACACTTGGCAACT 0.667000 12 4 0 0 0.435327 0 0 AK2 204 broad.mit.edu 37 1 33490112 33490112 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:33490112C>T ENST00000373449.2 - 2 191 c.150G>A c.(148-150)ctG>ctA p.L50L AK2_ENST00000548033.1_Intron|AK2_ENST00000480134.1_Silent_p.L50L|AK2_ENST00000487289.1_Silent_p.L50L|AK2_ENST00000467905.1_Silent_p.L50L|AK2_ENST00000354858.6_Silent_p.L50L|RP1-117O3.2_ENST00000427524.1_RNA NM_001199199.1|NM_013411.4 NP_001186128.1|NP_037543.1 P54819 KAD2_HUMAN adenylate kinase 2 50 nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CCATGGCCCTCAGCATGTCCC 0.468000 16 29 0 0 0.500413 0 0 PTPRD 5789 broad.mit.edu 37 9 8465602 8465602 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:8465602G>A ENST00000381196.4 - 29 4121 c.3578C>T c.(3577-3579)gCc>gTc p.A1193V PTPRD_ENST00000355233.5_Missense_Mutation_p.A782V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1171V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1193V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1180V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A779V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A779V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A782V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1193V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A772V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A772V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1193 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAAGTGAGCGGCAATATATGG 0.428000 TSP Lung(15;0.13) 28 79 0 0 0.740014 0 0 OR8A1 390275 broad.mit.edu 37 11 124440079 124440079 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:124440079G>A ENST00000284287.3 + 1 187 c.115G>A c.(115-117)Gac>Aac p.D39N NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GAAGAGAGCAGACCTCCAGCT 0.527000 15 28 0 0 0.539581 0 0 ASAP3 55616 broad.mit.edu 37 1 23768756 23768756 + Silent SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:23768756G>C ENST00000336689.3 - 7 638 c.594C>G c.(592-594)ctC>ctG p.L198L ASAP3_ENST00000437606.2_Silent_p.L189L NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 198 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding p.L198L(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 CCCCGGCTTTGAGCAGATACT 0.567000 5 14 0 0 0.217242 0 0 ALCAM 214 broad.mit.edu 37 3 105269058 105269058 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:105269058G>A ENST00000306107.5 + 12 1962 c.1462G>A c.(1462-1464)Gaa>Aaa p.E488K ALCAM_ENST00000389927.4_Missense_Mutation_p.E210K|ALCAM_ENST00000472644.2_Missense_Mutation_p.E488K|ALCAM_ENST00000486979.2_Missense_Mutation_p.E437K NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 488 Ig-like C2-type 3. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TTGCACAGCAGAAAACCAACT 0.333000 25 19 0 0 0.693898 0 0 FABP1 2168 broad.mit.edu 37 2 88425824 88425824 + Silent SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:88425824C>A ENST00000393750.3 - 2 142 c.111G>T c.(109-111)ggG>ggT p.G37G FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.G37G P07148 FABPL_HUMAN fatty acid binding protein 1, liver 37 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 TTTCCGACACCCCCTTGATAT 0.532000 104 197 2.09629e-50 2.36546e-50 0.870114 1 0 DCAF7 10238 broad.mit.edu 37 17 61628110 61628110 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:61628110G>C ENST00000310827.4 + 1 289 c.72G>C c.(70-72)tgG>tgC p.W24C DCAF7_ENST00000415273.2_Missense_Mutation_p.W24C|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Missense_Mutation_p.W24C NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 24 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 CGATGAACTGGAGTGTGCGGC 0.642000 28 97 0 0 0.693898 0 0 EOGT 285203 broad.mit.edu 37 3 69031975 69031975 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:69031975C>T ENST00000383701.3 - 15 1943 c.1201G>A c.(1201-1203)Gat>Aat p.D401N EOGT_ENST00000540764.1_Missense_Mutation_p.D300N|EOGT_ENST00000295571.5_Missense_Mutation_p.D317N|EOGT_ENST00000540955.1_Missense_Mutation_p.D125N NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase TACTTGTAATCAACAATCTGG 0.388000 6 17 0 0 0.278610 0 0 PTPRO 5800 broad.mit.edu 37 12 15677896 15677896 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:15677896G>C ENST00000281171.4 + 11 2370 c.2040G>C c.(2038-2040)aaG>aaC p.K680N PTPRO_ENST00000348962.2_Missense_Mutation_p.K680N NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 680 Fibronectin type-III 7. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AAATTAAAAAGAGTGTATGTT 0.343000 10 31 0 0 0.387290 0 0 ARID1A 8289 broad.mit.edu 37 1 27105793 27105793 + Nonsense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:27105793G>T ENST00000324856.7 + 20 5775 c.5404G>T c.(5404-5406)Gag>Tag p.E1802* ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E130*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1419*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1585* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1802 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGAGAATAGTGAGGAGAAGCT 0.438000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 15 24 2.23348e-06 2.29685e-06 0.500413 1 0 RBM47 54502 broad.mit.edu 37 4 40438583 40438583 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:40438583G>A ENST00000381793.2 - 4 1601 c.1205C>T c.(1204-1206)tCt>tTt p.S402F RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.S364F|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.S402F|RBM47_ENST00000319592.4_Intron A0AV96 RBM47_HUMAN RNA binding motif protein 47 402 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 ACGACCAGCAGAATATCCCCC 0.507000 79 171 0 0 0.870114 0 0 RPL12 6136 broad.mit.edu 37 9 130210620 130210620 + Silent SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:130210620G>C ENST00000361436.5 - 5 462 c.375C>G c.(373-375)ctC>ctG p.L125L RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Silent_p.L92L NM_000976.3 NP_000967.1 P30050 RL12_HUMAN ribosomal protein L12 125 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCTTACCAGAGAGTTCTCTGG 0.443000 80 143 0 0 0.870114 0 0 PNLDC1 154197 broad.mit.edu 37 6 160225085 160225085 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:160225085C>T ENST00000610273.1 + 5 475 c.304C>T c.(304-306)Cag>Tag p.Q102* PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Nonsense_Mutation_p.Q113* NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTCCAGTGTTCAGTTTTTGAA 0.413000 53 107 0 0 0.870114 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319580 21319580 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:21319580C>G ENST00000583088.1 + 3 1821 c.926C>G c.(925-927)aCc>aGc p.T309S KCNJ12_ENST00000331718.5_Missense_Mutation_p.T309S NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) ACAGCCATGACCACCCAGGCC 0.607000 Prostate(3;0.18) 22 268 0 0 0.693898 0 0 CEP350 9857 broad.mit.edu 37 1 179989148 179989148 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:179989148C>T ENST00000367607.3 + 12 2657 c.2239C>T c.(2239-2241)Caa>Taa p.Q747* NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 747 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TCACCATTCTCAACCACAGCC 0.383000 45 92 0 0 0.870114 0 0 IL10RA 3587 broad.mit.edu 37 11 117866303 117866303 + Splice_Site SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:117866303G>T ENST00000227752.3 + 6 808 c.e6-1 IL10RA_ENST00000533700.1_Splice_Site|IL10RA_ENST00000545409.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) TGGGCCTGCAGATTTCACCGT 0.577000 94 24 9.50027e-55 1.08042e-54 0.870114 1 0 PAPOLA 10914 broad.mit.edu 37 14 97022284 97022284 + Splice_Site SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:97022284G>A ENST00000216277.8 + 18 1985 c.1765G>A c.(1765-1767)Ggt>Agt p.G589S PAPOLA_ENST00000392990.2_Splice_Site_p.G589S NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 589 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AAGCTCAGGGGGTAAGGAGAT 0.403000 32 29 0 0 0.779181 0 0 KDELC1 79070 broad.mit.edu 37 13 103445990 103445990 + Silent SNP C C T rs144061173 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:103445990C>T ENST00000376004.4 - 3 891 c.555G>A c.(553-555)caG>caA p.Q185Q KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 185 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGCTCTGCCTCTGTCCAAATC 0.383000 34 84 0 0 0.812448 0 0 GDF6 392255 broad.mit.edu 37 8 97157377 97157377 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:97157377C>T ENST00000287020.5 - 2 881 c.782G>A c.(781-783)cGg>cAg p.R261Q NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 261 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) GCCCAGACTCCGCAGGTCCGG 0.736000 3 16 0 0 0.150653 0 0 GLI1 2735 broad.mit.edu 37 12 57861869 57861869 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:57861869C>T ENST00000228682.2 + 10 1261 c.1170C>T c.(1168-1170)gaC>gaT p.D390D GLI1_ENST00000546141.1_Silent_p.D349D|GLI1_ENST00000543426.1_Silent_p.D262D NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 390 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) ATGGTCCTGACGCCCATGTGA 0.572000 23 67 0 0 0.693898 0 0 PIDD 55367 broad.mit.edu 37 11 801284 801284 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:801284G>T ENST00000347755.5 - 9 1705 c.1564C>A c.(1564-1566)Cag>Aag p.Q522K PIDD_ENST00000411829.2_Missense_Mutation_p.Q522K NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 522 ZU5 2. apoptosis|signal transduction cytoplasm|nucleus death receptor binding GGACCGCTCTGTGACAGGCAC 0.677000 27 51 7.63505e-26 8.48338e-26 0.760397 1 0 PGD 5226 broad.mit.edu 37 1 10471526 10471526 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:10471526G>C ENST00000538557.1 + 7 776 c.532G>C c.(532-534)Gag>Cag p.E178Q PGD_ENST00000270776.8_Missense_Mutation_p.E191Q|PGD_ENST00000541529.1_Missense_Mutation_p.E169Q P52209 6PGD_HUMAN phosphogluconate dehydrogenase 191 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CAACGGGATAGAGTATGGGGA 0.582000 13 45 0 0 0.479597 0 0 MYH1 4619 broad.mit.edu 37 17 10409366 10409366 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:10409366A>G ENST00000226207.5 - 18 2113 c.2019T>C c.(2017-2019)ttT>ttC p.F673F CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 673 Actin-binding (By similarity).|Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGCACCGCACAAAGTGGGGGT 0.423000 35 166 0 0 0.870114 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102461424 102461424 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:102461424G>A ENST00000360184.4 + 14 3599 c.3435G>A c.(3433-3435)caG>caA p.Q1145Q NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1145 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TCCATTCCCAGATCTCAAAGG 0.463000 21 35 0 0 0.608945 0 0 TMEM171 134285 broad.mit.edu 37 5 72419597 72419597 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:72419597G>A ENST00000454765.2 + 2 870 c.397G>A c.(397-399)Gtc>Atc p.V133I TMEM171_ENST00000287773.5_Missense_Mutation_p.V133I Q8WVE6 TM171_HUMAN transmembrane protein 171 133 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) GGGCATTTGGGTCCCTGGATG 0.562000 4 148 0 0 0.150653 0 0 POTEM 641455 broad.mit.edu 37 14 20019865 20019865 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:20019865G>T ENST00000551509.1 - 1 407 c.356C>A c.(355-357)cCc>cAc p.P119H NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 119 endometrium(4)|kidney(1)|lung(4) 9 GTCTCCCCAGGGGCCCACTTT 0.602000 66 100 8.80822e-21 9.60295e-21 0.870114 1 0 TLR9 54106 broad.mit.edu 37 3 52256622 52256622 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:52256622G>A ENST00000494383.1 - 5 2169 c.2170C>T c.(2170-2172)Cgt>Tgt p.R724C TLR9_ENST00000597542.1_Silent_p.F594F|TLR9_ENST00000360658.2_Silent_p.F570F Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GGTGAGCCACGAAGCTGAAGT 0.642000 24 23 0 0 0.654019 0 0 GPR108 56927 broad.mit.edu 37 19 6731901 6731901 + Splice_Site SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:6731901C>T ENST00000264080.7 - 14 1327 c.e14+1 GPR108_ENST00000430424.4_Splice_Site|GPR108_ENST00000598626.1_Splice_Site NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CAGGGCCTCACCCTTCCCGTC 0.662000 13 1 0 0 0.457914 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C G rs11540652 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:7577538C>G ENST00000420246.2 - 7 875 c.743G>C c.(742-744)cGg>cCg p.R248P TP53_ENST00000445888.2_Missense_Mutation_p.R248P|TP53_ENST00000269305.4_Missense_Mutation_p.R248P|TP53_ENST00000455263.2_Missense_Mutation_p.R248P|TP53_ENST00000359597.4_Missense_Mutation_p.R248P|TP53_ENST00000413465.2_Missense_Mutation_p.R248P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 124 21 0 0 0.870114 0 0 PTGFRN 5738 broad.mit.edu 37 1 117529499 117529499 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:117529499C>T ENST00000393203.2 + 9 2697 c.2550C>T c.(2548-2550)atC>atT p.I850I NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 850 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CCTGTCTCATCGGGTACTGCA 0.607000 53 77 0 0 0.870114 0 0 GRM1 2911 broad.mit.edu 37 6 146720833 146720833 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:146720833C>T ENST00000392299.2 + 8 3128 c.2658C>T c.(2656-2658)gcC>gcT p.A886A GRM1_ENST00000361719.2_Silent_p.A886A|GRM1_ENST00000492807.2_Silent_p.A886A|GRM1_ENST00000507907.1_Silent_p.A886A|GRM1_ENST00000282753.1_Silent_p.A886A|GRM1_ENST00000355289.4_Silent_p.A886A Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 886 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAGGGAATGCCAAGTGAGTTA 0.488000 6 7 0 0 0.217242 0 0 FAM111B 374393 broad.mit.edu 37 11 58893255 58893255 + Nonsense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:58893255G>A ENST00000343597.3 + 4 1876 c.1685G>A c.(1684-1686)tGg>tAg p.W562* FAM111B_ENST00000529618.1_Nonsense_Mutation_p.W532*|FAM111B_ENST00000411426.1_Nonsense_Mutation_p.W532* NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 562 catalytic activity p.W562*(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 CCAGGACTATGGCGACAGATT 0.373000 14 37 0 0 0.457914 0 0 PANK2 80025 broad.mit.edu 37 20 3870313 3870313 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:3870313C>G ENST00000316562.4 + 1 572 c.566C>G c.(565-567)tCt>tGt p.S189C PANK2_ENST00000610179.1_Missense_Mutation_p.S66C|PANK2_ENST00000497424.1_Intron NM_153638.2 NP_705902.2 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 189 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CGACTGGGCTCTTACAGCGGC 0.751000 6 38 0 0 0.278610 0 0 DPP3 10072 broad.mit.edu 37 11 66262701 66262701 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:66262701G>A ENST00000532677.1 + 13 1872 c.1471G>A c.(1471-1473)Gac>Aac p.D491N DPP3_ENST00000360510.2_Missense_Mutation_p.D472N|DPP3_ENST00000541961.1_Missense_Mutation_p.D472N|DPP3_ENST00000531863.1_Missense_Mutation_p.D492N|DPP3_ENST00000453114.1_Missense_Mutation_p.D472N|DPP3_ENST00000530165.1_Missense_Mutation_p.D442N|DPP3_ENST00000533799.1_3'UTR NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 472 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 ATTCAACTTTGACCAGGAAAC 0.627000 52 80 0 0 0.870114 0 0 FREM1 158326 broad.mit.edu 37 9 14859231 14859231 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:14859231C>T ENST00000380881.4 - 5 1396 c.581G>A c.(580-582)cGa>cAa p.R194Q FREM1_ENST00000422223.2_Missense_Mutation_p.R194Q|FREM1_ENST00000380880.3_Missense_Mutation_p.R194Q Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 194 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTCTTCTGGTCGAGGCTCCCC 0.502000 31 41 0 0 0.769981 0 0 GLP1R 2740 broad.mit.edu 37 6 39047367 39047367 + Silent SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:39047367C>A ENST00000373256.4 + 11 1114 c.1071C>A c.(1069-1071)atC>atA p.I357I NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 357 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) TGACACTCATCCCCCTGCTGG 0.567000 24 55 9.78306e-22 1.0706e-21 0.740014 1 0 L3MBTL4 91133 broad.mit.edu 37 18 6301906 6301906 + Missense_Mutation SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:6301906A>C ENST00000400104.3 - 4 323 c.123T>G c.(121-123)agT>agG p.S41R L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S41R|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.S41R|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S41R Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 41 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) AATTACCGTGACTCAAAGGGG 0.338000 25 118 0 0 0.760397 0 0 ABCG8 64241 broad.mit.edu 37 2 44101118 44101118 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:44101118C>T ENST00000272286.2 + 9 1494 c.1404C>T c.(1402-1404)atC>atT p.I468I NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 468 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGATGTCATCTCCAAATGTG 0.542000 62 97 0 0 0.870114 0 0 CROCCP2 84809 broad.mit.edu 37 1 16952952 16952952 + RNA SNP G G A rs1762946 by1000genomes TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:16952952G>A ENST00000412962.1 - 0 664 TCTGCCCTCAGCTTGGTCACG 0.622000 10 64 0 0 0.335167 0 0 A2M 2 broad.mit.edu 37 12 9248286 9248286 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:9248286A>G ENST00000318602.7 - 16 2169 c.1862T>C c.(1861-1863)cTg>cCg p.L621P NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 621 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TTCTGGTAGCAGGTTGTAAAC 0.368000 12 58 0 0 0.557998 0 0 ALAS2 212 broad.mit.edu 37 X 55054211 55054211 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chrX:55054211C>T ENST00000396198.3 - 2 115 c.30G>A c.(28-30)tgG>tgA p.W10* ALAS2_ENST00000330807.5_Intron|ALAS2_ENST00000335854.4_Intron NM_001037968.3 NP_001033057.1 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 0 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) TTTTCTTGTTCCATCCCAGAG 0.537000 41 8 0 0 0.870114 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107169953 107169953 + RNA SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:107169953G>T ENST00000390633.2 - 0 389 ATACACGGCCGTGTCCTCAGA 0.557000 133 405 4.49191e-84 5.12856e-84 0.870114 1 0 CACHD1 57685 broad.mit.edu 37 1 65095063 65095063 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:65095063C>A ENST00000371073.2 + 5 543 c.543C>A c.(541-543)aaC>aaA p.N181K CACHD1_ENST00000290039.5_Missense_Mutation_p.N130K|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 181 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGAAATCCAACCCTGGAATTA 0.453000 26 52 6.38683e-12 6.83462e-12 0.729181 1 0 ZAN 7455 broad.mit.edu 37 7 100364700 100364700 + RNA SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:100364700C>A ENST00000542585.1 + 0 4828 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGCACCACTTCATGGGCACCT 0.607000 46 86 4.25531e-23 4.69217e-23 0.870114 1 0 GUCY2D 3000 broad.mit.edu 37 17 7906989 7906989 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:7906989G>A ENST00000254854.4 + 2 774 c.624G>A c.(622-624)cgG>cgA p.R208R NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 208 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TCAGGGCCCGGGGCCTGCCTG 0.711000 10 52 0 0 0.387290 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815314 23815314 + Splice_Site SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:23815314T>G ENST00000264867.2 - 8 1911 c.1792A>C c.(1792-1794)Aga>Cga p.R598R PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 598 Arg/Ser-rich. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) AAGGTTTACCTTGAAGAGGAT 0.403000 11 22 0 0 0.500413 0 0 SKAP2 8935 broad.mit.edu 37 7 26709771 26709771 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:26709771C>T ENST00000345317.2 - 12 1341 c.1028G>A c.(1027-1029)gGa>gAa p.G343E SKAP2_ENST00000539623.1_Missense_Mutation_p.G171E NM_003930.3 NP_003921.2 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 343 SH3. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3) 17 GCCAATGGCTCCCTTCATTTC 0.363000 19 28 0 0 0.654019 0 0 ZNF426 79088 broad.mit.edu 37 19 9639507 9639507 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:9639507G>A ENST00000593003.1 - 6 1577 c.1100C>T c.(1099-1101)tCa>tTa p.S367L ZNF426_ENST00000535489.1_Missense_Mutation_p.S405L|ZNF426_ENST00000253115.2_Missense_Mutation_p.S405L Q9BUY5 ZN426_HUMAN zinc finger protein 426 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 ACTAAGATTTGAGGAAACTGC 0.408000 8 27 0 0 0.307466 0 0 PNMAL2 57469 broad.mit.edu 37 19 46997598 46997598 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:46997598G>A ENST00000599531.1 - 1 2157 c.1125C>T c.(1123-1125)gtC>gtT p.V375V PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 375 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TGACGGACAAGACCTGTCGGA 0.642000 8 41 0 0 0.307466 0 0 FMO3 2328 broad.mit.edu 37 1 171085395 171085395 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:171085395G>A ENST00000367755.4 + 8 1342 c.1231G>A c.(1231-1233)Gag>Aag p.E411K FMO3_ENST00000392085.2_Missense_Mutation_p.E411K|FMO3_ENST00000538429.1_Missense_Mutation_p.E348K|FMO3_ENST00000542847.1_Missense_Mutation_p.E391K NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 411 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.E411Q(1) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGATATTAATGAGAAAATGGA 0.358000 11 23 0 0 0.457914 0 0 DSEL 92126 broad.mit.edu 37 18 65180301 65180301 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:65180301C>T ENST00000310045.7 - 2 3048 c.1575G>A c.(1573-1575)tgG>tgA p.W525* CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 515 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) GTTGACCTTCCCAGGGCTTAT 0.488000 33 75 0 0 0.796494 0 0 TAMM41 132001 broad.mit.edu 37 3 11851124 11851124 + Silent SNP C C T rs140106641 byFrequency TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:11851124C>T ENST00000444133.2 - 6 883 c.741G>A c.(739-741)caG>caA p.Q247Q TAMM41_ENST00000273037.5_Silent_p.Q247Q|TAMM41_ENST00000455809.1_Silent_p.Q247Q Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 247 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane ATGTCATCAGCTGAGTGAACT 0.398000 18 24 0 0 0.693898 0 0 SMYD4 114826 broad.mit.edu 37 17 1686727 1686727 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:1686727C>G ENST00000305513.7 - 9 2231 c.2064G>C c.(2062-2064)gaG>gaC p.E688D NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 688 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 ACAGGAAGCTCTCGGCGTCAC 0.612000 16 50 0 0 0.520397 0 0 WFDC2 10406 broad.mit.edu 37 20 44108543 44108543 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:44108543C>T ENST00000342873.3 + 1 465 c.32C>T c.(31-33)tCg>tTg p.S11L WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000372676.3_Intron|WFDC2_ENST00000488143.1_Intron Q14508 WFDC2_HUMAN WAP four-disulfide core domain 2 0 proteolysis|spermatogenesis extracellular space serine-type endopeptidase inhibitor activity lung(1) 1 Myeloproliferative disorder(115;0.0122) CTCCCTGTATCGCCTCTGCCC 0.572000 113 425 0 0 0.870114 0 0 DUS1L 64118 broad.mit.edu 37 17 80017896 80017896 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:80017896C>T ENST00000354321.7 - 10 1581 c.1096G>A c.(1096-1098)Gag>Aag p.E366K DUS1L_ENST00000306796.5_Missense_Mutation_p.E366K Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 366 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GACAGGACCTCCGTGCCACCC 0.652000 23 102 0 0 0.667858 0 0 SYNE1 23345 broad.mit.edu 37 6 152674462 152674462 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:152674462T>A ENST00000367255.5 - 69 11790 c.11189A>T c.(11188-11190)aAt>aTt p.N3730I SYNE1_ENST00000448038.1_Missense_Mutation_p.N3715I|SYNE1_ENST00000341594.5_Missense_Mutation_p.N3701I|SYNE1_ENST00000423061.1_Missense_Mutation_p.N3715I|SYNE1_ENST00000265368.4_Missense_Mutation_p.N3730I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3730 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGTAGCCACATTCTTGAAGTT 0.398000 HNSCC(10;0.0054) 5 103 0 0 0.184627 0 0 GDF6 392255 broad.mit.edu 37 8 97172829 97172829 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:97172829G>C ENST00000287020.5 - 1 191 c.92C>G c.(91-93)tCc>tGc p.S31C NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 31 Poly-Ser. activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) GGACGACGAGGAGGATGAGAT 0.647000 49 155 0 0 0.870114 0 0 DUSP7 1849 broad.mit.edu 37 3 52090150 52090150 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:52090150C>A ENST00000495880.1 - 1 416 c.233G>T c.(232-234)cGg>cTg p.R78L DUSP7_ENST00000296483.6_Missense_Mutation_p.R27L Q16829 DUS7_HUMAN dual specificity phosphatase 7 78 Rhodanese. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTCGTGCGGCCGGCAGTCGAG 0.716000 4 15 2.0095e-06 2.07386e-06 0.248553 1 0 CEP350 9857 broad.mit.edu 37 1 180063622 180063622 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:180063622G>A ENST00000367607.3 + 34 8800 c.8382G>A c.(8380-8382)aaG>aaA p.K2794K CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2794 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ATGACCAAAAGAAAGTAACAC 0.388000 3 8 0 0 0.184627 0 0 KMT2A 4297 broad.mit.edu 37 11 118355688 118355688 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:118355688G>C ENST00000534358.1 + 10 4353 c.4330G>C c.(4330-4332)Gag>Cag p.E1444Q KMT2A_ENST00000389506.5_Missense_Mutation_p.E1444Q|KMT2A_ENST00000354520.4_Intron NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TGGGCATGTAGAGGTAAGGCA 0.423000 12 21 0 0 0.387290 0 0 CDHR5 53841 broad.mit.edu 37 11 621088 621088 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:621088G>A ENST00000358353.3 - 8 1103 c.781C>T c.(781-783)Cac>Tac p.H261Y CDHR5_ENST00000349570.7_Missense_Mutation_p.H261Y|CDHR5_ENST00000397542.2_Missense_Mutation_p.H261Y Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 261 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 ACCAGTATGTGCCCCGTGGGG 0.672000 28 49 0 0 0.769981 0 0 LINC00922 283867 broad.mit.edu 37 16 65345348 65345348 + RNA SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:65345348C>T ENST00000569736.1 - 0 787 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 GCCTGGAAGCCCATGCCTTCA 0.438000 38 50 0 0 0.827153 0 0 HNF1B 6928 broad.mit.edu 37 17 36070615 36070615 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:36070615G>A ENST00000225893.4 - 5 1463 c.1102C>T c.(1102-1104)Cac>Tac p.H368Y HNF1B_ENST00000560016.1_Missense_Mutation_p.H368Y|HNF1B_ENST00000561193.1_Missense_Mutation_p.H342Y|HNF1B_ENST00000427275.2_Missense_Mutation_p.H342Y NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 368 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TTGCCATGGTGACTGATTGTT 0.537000 21 46 0 0 0.639603 0 0 GPX3 2878 broad.mit.edu 37 5 150407039 150407039 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:150407039G>C ENST00000388825.4 + 4 498 c.406G>C c.(406-408)Gag>Cag p.E136Q GPX3_ENST00000517973.1_Missense_Mutation_p.L84F NM_002084.3 NP_002075.2 P22352 GPX3_HUMAN glutathione peroxidase 3 (plasma) 136 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding kidney(1)|large_intestine(3)|lung(1)|skin(1) 6 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CCAGCTCTTTGAGAAAGGGGA 0.527000 14 64 0 0 0.457914 0 0 SKIDA1 387640 broad.mit.edu 37 10 21804750 21804750 + Nonsense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr10:21804750C>A ENST00000449193.2 - 4 4254 c.2002G>T c.(2002-2004)Gag>Tag p.E668* SKIDA1_ENST00000444772.3_Nonsense_Mutation_p.E589* NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 CAGGGATTCTCGGCTTTAGTT 0.433000 14 18 9.16793e-09 9.56367e-09 0.520397 1 0 RSF1 51773 broad.mit.edu 37 11 77411897 77411897 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:77411897C>T ENST00000308488.6 - 6 2679 c.2377G>A c.(2377-2379)Gat>Aat p.D793N RSF1_ENST00000360355.2_Missense_Mutation_p.D762N|RSF1_ENST00000480887.1_Missense_Mutation_p.D541N Q96T23 RSF1_HUMAN remodeling and spacing factor 1 793 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GCTTTCTGATCTCTGATCTCA 0.383000 18 27 0 0 0.575678 0 0 OR2G3 81469 broad.mit.edu 37 1 247768909 247768909 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:247768909T>A ENST00000320002.2 + 1 54 c.22T>A c.(22-24)Tcc>Acc p.S8T RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CAATGAGAGTTCCCTAATGGA 0.468000 23 37 0 0 0.750413 0 0 C20orf26 26074 broad.mit.edu 37 20 20051628 20051628 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:20051628G>T ENST00000245957.5 + 3 350 c.274G>T c.(274-276)Gac>Tac p.D92Y C20orf26_ENST00000451767.2_Missense_Mutation_p.D92Y|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.D92Y NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 92 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CCGGGAGCTCGACAGTGACAT 0.498000 28 136 6.05902e-23 6.65574e-23 0.788014 1 0 CELF4 56853 broad.mit.edu 37 18 34901838 34901838 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:34901838G>A ENST00000420428.2 - 3 771 c.376C>T c.(376-378)Cgg>Tgg p.R126W CELF4_ENST00000601019.1_Missense_Mutation_p.R126W|CELF4_ENST00000591287.1_Missense_Mutation_p.R126W|CELF4_ENST00000412753.1_Missense_Mutation_p.R126W|CELF4_ENST00000588597.1_Missense_Mutation_p.R126W|CELF4_ENST00000603232.1_Missense_Mutation_p.R126W|CELF4_ENST00000591282.1_Missense_Mutation_p.R126W|CELF4_ENST00000361795.5_Missense_Mutation_p.R126W|CELF4_ENST00000334919.5_Missense_Mutation_p.R126W NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 126 RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 TGGATCGGCCGGTTCATCTGC 0.627000 OREG0024927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 67 0 0 0.870114 0 0 BLOC1S2 282991 broad.mit.edu 37 10 102045870 102045870 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr10:102045870C>T ENST00000441611.1 - 1 244 c.27G>A c.(25-27)ctG>ctA p.L9L BLOC1S2_ENST00000370372.2_Silent_p.L52L|BLOC1S2_ENST00000361832.2_5'UTR NM_001001342.2|NM_001282437.1|NM_001282438.1|NM_001282439.1 NP_001001342.1|NP_001269366.1|NP_001269367.1|NP_001269368.1 Q6QNY1 BL1S2_HUMAN biogenesis of lysosomal organelles complex-1, subunit 2 52 melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus gamma-tubulin binding|identical protein binding|protein C-terminus binding large_intestine(1)|lung(2)|ovary(1) 4 Colorectal(252;0.117) Epithelial(162;2.44e-10)|all cancers(201;1.97e-08) GTTCCCCAGTCAGGTAAGTGG 0.597000 70 167 0 0 0.870114 0 0 PITPNM1 9600 broad.mit.edu 37 11 67262389 67262389 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:67262389C>A ENST00000356404.3 - 18 2895 c.2670G>T c.(2668-2670)gaG>gaT p.E890D PITPNM1_ENST00000436757.2_Missense_Mutation_p.E889D|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000534749.1_Missense_Mutation_p.E890D NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 890 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 TGGACGGCTCCTCGCATTCCG 0.692000 84 130 1.21526e-53 1.37666e-53 0.870114 1 0 MACF1 23499 broad.mit.edu 37 1 39910468 39910468 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:39910468G>T ENST00000564288.1 + 80 20343 c.19566G>T c.(19564-19566)caG>caT p.Q6522H MACF1_ENST00000372915.3_Missense_Mutation_p.Q6421H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6559H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4463H|MACF1_ENST00000317713.7_Missense_Mutation_p.Q4463H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4463H|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4333H|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4965H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6530 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTTTGGAGCAGAAGTGGCATG 0.438000 30 36 2.48696e-23 2.75274e-23 0.779181 1 0 PAX4 5078 broad.mit.edu 37 7 127253582 127253582 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:127253582G>T ENST00000341640.2 - 5 748 c.543C>A c.(541-543)ttC>ttA p.F181L PAX4_ENST00000463946.1_Missense_Mutation_p.F179L|PAX4_ENST00000338516.3_Missense_Mutation_p.F189L|PAX4_ENST00000378740.2_Missense_Mutation_p.F181L NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 189 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCCCACGCTGGAACTCTGCGG 0.587000 20 57 4.96729e-08 5.14469e-08 0.575678 1 0 OBSCN 84033 broad.mit.edu 37 1 228400372 228400372 + Silent SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:228400372C>G ENST00000570156.2 + 2 962 c.888C>G c.(886-888)ctC>ctG p.L296L C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000422127.1_Silent_p.L296L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L296L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 296 Ig-like 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACTTCGTGCTCAAGATCCTCT 0.657000 42 110 0 0 0.870114 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878981 39878981 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:39878981C>T ENST00000530275.1 + 1 2831 c.2636C>T c.(2635-2637)tCc>tTc p.S879F MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 879 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGCCCACCTCCCCAGCTGCT 0.697000 12 17 0 0 0.479597 0 0 ALPP 250 broad.mit.edu 37 2 233245162 233245162 + Silent SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:233245162C>G ENST00000392027.2 + 7 1094 c.825C>G c.(823-825)ctC>ctG p.L275L AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 275 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCACTGAGCTCATGCAGGCTT 0.647000 65 117 0 0 0.870114 0 0 MLLT3 4300 broad.mit.edu 37 9 20414153 20414153 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:20414153C>G ENST00000380338.4 - 5 977 c.691G>C c.(691-693)Gaa>Caa p.E231Q MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.E228Q|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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) TTAGAGGATTCTTTGGAAGAT 0.378000 T MLL ALL 40 129 0 0 0.870114 0 0 PDE3A 5139 broad.mit.edu 37 12 20766459 20766459 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:20766459C>G ENST00000359062.3 + 3 1134 c.1094C>G c.(1093-1095)tCt>tGt p.S365C PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 365 HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GCAGACCCTTCTCTTCCACCA 0.557000 60 45 0 0 0.870114 0 0 SLC25A27 9481 broad.mit.edu 37 6 46623750 46623750 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:46623750C>T ENST00000371347.5 + 2 529 c.277C>T c.(277-279)Ccc>Tcc p.P93S SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Missense_Mutation_p.P93S NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 93 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) AGGAGTGACACCCGCCATTTA 0.453000 35 72 0 0 0.864702 0 0 CLEC4M 10332 broad.mit.edu 37 19 7833781 7833781 + Silent SNP G G A rs144974332 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:7833781G>A ENST00000327325.5 + 7 1225 c.1107G>A c.(1105-1107)gcG>gcA p.A369A CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000595496.1_Silent_p.A233A|CLEC4M_ENST00000334806.5_Silent_p.A318A|CLEC4M_ENST00000359059.5_Silent_p.A302A|CLEC4M_ENST00000596707.1_Silent_p.A302A|CLEC4M_ENST00000394122.2_Silent_p.A357A|CLEC4M_ENST00000248228.4_Silent_p.A347A|CLEC4M_ENST00000597522.1_3'UTR NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 369 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 AAGACTGTGCGGAATTTAGTG 0.512000 14 148 0 0 0.520397 0 0 LPL 4023 broad.mit.edu 37 8 19811640 19811640 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:19811640C>T ENST00000311322.8 + 5 1021 c.551C>T c.(550-552)cCa>cTa p.P184L NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 184 P -> R (in LPL deficiency; Nijmegen; loss of activity). fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GGCCTCGATCCAGCTGGACCT 0.453000 19 55 0 0 0.575678 0 0 SUCO 51430 broad.mit.edu 37 1 172558282 172558282 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:172558282C>G ENST00000367723.4 + 17 2618 c.2494C>G c.(2494-2496)Ctg>Gtg p.L832V SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Missense_Mutation_p.L833V|SUCO_ENST00000263688.3_Missense_Mutation_p.L681V NM_016227.2 NP_057311.3 SUN domain containing ossification factor ATTGCAACCTCTGAGTGGAGA 0.408000 15 81 0 0 0.557998 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128844063 128844063 + Nonsense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:128844063G>C ENST00000310343.9 - 20 2986 c.2987C>G c.(2986-2988)tCa>tGa p.S996* ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.S647*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.S922*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.S647* NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 996 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CTGACTGCTTGAGACAGACTG 0.473000 21 43 0 0 0.592651 0 0 KCNS1 3787 broad.mit.edu 37 20 43727083 43727083 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:43727083G>A ENST00000306117.1 - 4 726 c.330C>T c.(328-330)ttC>ttT p.F110F KCNS1_ENST00000537075.1_Silent_p.F110F NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 110 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) GGCTCAGGAAGAAGCCCGGGT 0.692000 11 11 0 0 0.479597 0 0 PHTF1 10745 broad.mit.edu 37 1 114247322 114247322 + Missense_Mutation SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:114247322A>C ENST00000369604.1 - 14 2252 c.1769T>G c.(1768-1770)aTt>aGt p.I590S PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.I590S|PHTF1_ENST00000369596.2_Missense_Mutation_p.I537S|PHTF1_ENST00000357783.2_Missense_Mutation_p.I590S|PHTF1_ENST00000369598.1_Missense_Mutation_p.I545S|PHTF1_ENST00000369600.1_Missense_Mutation_p.I537S Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 590 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) 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) CCATATTTTAATATTCTCCAC 0.353000 10 25 0 0 0.361761 0 0 RP1 6101 broad.mit.edu 37 8 55539332 55539332 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:55539332A>G ENST00000220676.1 + 4 3038 c.2890A>G c.(2890-2892)Ata>Gta p.I964V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 964 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCTGGAAAAATAAGTAATTT 0.328000 29 22 0 0 0.717897 0 0 SEMA3A 10371 broad.mit.edu 37 7 83636800 83636800 + Nonsense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:83636800C>A ENST00000265362.4 - 10 1323 c.1009G>T c.(1009-1011)Gga>Tga p.G337* SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.G337* NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ACGGCTGATCCCTTGAAAATG 0.388000 15 19 4.7546e-09 4.99578e-09 0.500413 1 0 PRDM5 11107 broad.mit.edu 37 4 121616352 121616352 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:121616352C>T ENST00000264808.3 - 16 2047 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K PRDM5_ENST00000428209.2_Missense_Mutation_p.E572K|PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000506065.1_5'UTR NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 603 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AACTGGCATTCTGCCAGGGGA 0.428000 24 37 0 0 0.681144 0 0 NOP16 51491 broad.mit.edu 37 5 175811366 175811366 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:175811366G>A ENST00000389158.5 - 5 838 c.403C>T c.(403-405)Cgt>Tgt p.R135C NOP16_ENST00000510123.1_Intron|NOP16_ENST00000507413.1_Intron Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein 135 nucleolus p.R135S(1)|p.?(1) central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 TTCTCATCACGGGCCATGGCC 0.458000 19 50 0 0 0.654019 0 0 ESPNP 284729 broad.mit.edu 37 1 17026513 17026513 + RNA SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:17026513C>G ENST00000492551.1 - 0 1172 NR_026567.1 CGCAGGAGCTCGGCTGCGGGA 0.716000 3 21 0 0 0.115264 0 0 JRKL 8690 broad.mit.edu 37 11 96124087 96124087 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:96124087G>C ENST00000458427.1 + 1 930 c.274G>C c.(274-276)Gca>Cca p.A92P JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.A92P NM_003772.3 NP_003763.2 Q9Y4A0 JERKL_HUMAN jerky homolog-like (mouse) 92 HTH CENPB-type. central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) CCAGCAAAGAGCAAAAGGGAA 0.443000 46 17 0 0 0.870114 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450509 85450509 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:85450509A>G ENST00000393217.2 + 8 1999 c.1938A>G c.(1936-1938)ccA>ccG p.P646P NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 646 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AGGAGAACCCAAAAGACAATG 0.308000 6 13 0 0 0.217242 0 0 CD5L 922 broad.mit.edu 37 1 157803159 157803159 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:157803159C>T ENST00000368174.4 - 5 958 c.862G>A c.(862-864)Ggg>Agg p.G288R NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 288 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGGGACTTCCCACAGCCCAGT 0.587000 43 125 0 0 0.864702 0 0 DBP 1628 broad.mit.edu 37 19 49136903 49136903 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:49136903G>A ENST00000222122.5 - 3 1003 c.560C>T c.(559-561)tCt>tTt p.S187F DBP_ENST00000601104.1_Missense_Mutation_p.S187F|DBP_ENST00000599385.1_5'UTR|DBP_ENST00000593500.1_5'UTR NM_001352.3 NP_001343.2 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) binding protein 187 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) TGTGTCCCGAGAGGTCAGGCC 0.542000 29 81 0 0 0.740014 0 0 RB1 5925 broad.mit.edu 37 13 48955394 48955394 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:48955394C>T ENST00000267163.4 + 17 1648 c.1510C>T c.(1510-1512)Cag>Tag p.Q504* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 504 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.T502fs*22(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGTACATCTCAGAATCTTGA 0.284000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 4 5 0 0 0.184627 0 0 DUSP26 78986 broad.mit.edu 37 8 33451114 33451114 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:33451114C>T ENST00000256261.4 - 3 890 c.373G>A c.(373-375)Gac>Aac p.D125N DUSP26_ENST00000523956.1_Missense_Mutation_p.D125N NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 125 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) ATGCTCATGTCAAAGGCTGGC 0.642000 32 94 0 0 0.834066 0 0 POC1A 25886 broad.mit.edu 37 3 52179937 52179937 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:52179937T>C ENST00000394970.2 - 6 921 c.604A>G c.(604-606)Att>Gtt p.I202V POC1A_ENST00000474012.1_Missense_Mutation_p.I164V|POC1A_ENST00000296484.2_Missense_Mutation_p.I202V NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 202 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 GCAGCGGCAATGCACGTCCCA 0.592000 28 52 0 0 0.779181 0 0 APTX 54840 broad.mit.edu 37 9 32986023 32986023 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:32986023G>A ENST00000379817.2 - 4 685 c.489C>T c.(487-489)tcC>tcT p.S163S APTX_ENST00000463596.1_Silent_p.S163S|APTX_ENST00000468275.1_Silent_p.S163S|APTX_ENST00000436040.2_Silent_p.S163S|APTX_ENST00000309615.3_Silent_p.S177S|APTX_ENST00000379825.2_Silent_p.S177S|APTX_ENST00000476858.1_Silent_p.S123S|APTX_ENST00000397172.3_Silent_p.S105S|APTX_ENST00000379813.3_Silent_p.S163S|APTX_ENST00000379819.1_Silent_p.S177S Q7Z2E3 APTX_HUMAN aprataxin 177 cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding endometrium(1)|lung(1)|ovary(2)|prostate(2) 6 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) AGTGGCCCAGGGATTCCTaaa 0.308000 Editing and processing nucleases 10 44 0 0 0.361761 0 0 C12orf42 374470 broad.mit.edu 37 12 103699968 103699968 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:103699968C>T ENST00000548048.1 - 8 710 c.214G>A c.(214-216)Gag>Aag p.E72K C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Missense_Mutation_p.E139K|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.E139K Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 139 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 AATGGGGCCTCATCAGTTTCA 0.463000 17 14 0 0 0.592651 0 0 CSMD3 114788 broad.mit.edu 37 8 113318249 113318249 + Silent SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:113318249G>T ENST00000297405.5 - 51 8302 c.8058C>A c.(8056-8058)acC>acA p.T2686T CSMD3_ENST00000455883.2_Silent_p.T2582T|CSMD3_ENST00000343508.3_Silent_p.T2646T|CSMD3_ENST00000352409.3_Silent_p.T2616T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2686 Sushi 15. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CACAGCGAGGGGTCTTGTTAT 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 38 109 1.08114e-33 1.21524e-33 0.870114 1 0 PCDHA3 56145 broad.mit.edu 37 5 140181188 140181188 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:140181188G>T ENST00000522353.2 + 1 406 c.406G>T c.(406-408)Gct>Tct p.A136S PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A136S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018906.2 NP_061729.1 p.A136T(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTCCAATGGCTGTAAAGAA 0.502000 4 125 0.150653 0.151175 0.150653 1 0 PTPRD 5789 broad.mit.edu 37 9 8460469 8460469 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:8460469G>A ENST00000381196.4 - 30 4360 c.3817C>T c.(3817-3819)Cct>Tct p.P1273S PTPRD_ENST00000355233.5_Missense_Mutation_p.P862S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1251S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1273S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1260S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P859S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P859S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P862S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1273S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P852S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P852S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1273 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCAAGGACAGGACCTACAACC 0.463000 TSP Lung(15;0.13) 39 42 0 0 0.847076 0 0 TMEM110 375346 broad.mit.edu 37 3 52883817 52883817 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:52883817C>A ENST00000355083.5 - 4 563 c.418G>T c.(418-420)Ggc>Tgc p.G140C TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.G140C NM_198563.2 NP_940965.1 transmembrane protein 110 kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) CCATATTCGCCGAAGCGCAGG 0.627000 58 14 9.4991e-31 1.06361e-30 0.870114 1 0 TBX5 6910 broad.mit.edu 37 12 114832653 114832653 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:114832653C>T ENST00000310346.4 - 6 1222 c.556G>A c.(556-558)Gtg>Atg p.V186M TBX5_ENST00000526441.1_Missense_Mutation_p.V186M|TBX5_ENST00000405440.2_Missense_Mutation_p.V186M|TBX5_ENST00000349716.5_Missense_Mutation_p.V136M NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 186 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TCCGCTTTCACGATGTGTAAT 0.363000 109 101 0 0 0.870114 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457421 45457421 + RNA SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:45457421C>T ENST00000548424.1 + 0 448 CAGGAGTGGTCACAGGTCCCA 0.458000 17 23 0 0 0.557998 0 0 RAG1 5896 broad.mit.edu 37 11 36595001 36595001 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:36595001G>A ENST00000299440.5 + 2 259 c.147G>A c.(145-147)aaG>aaA p.K49K NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 49 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.K49N(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AAAAGGAAAAGAAGGATTCCT 0.438000 Familial Hemophagocytic Lymphohistiocytosis 11 23 0 0 0.361761 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 5 90 0 0 0.217242 0 0 KLF5 688 broad.mit.edu 37 13 73636090 73636090 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:73636090C>T ENST00000377687.4 + 2 889 c.353C>T c.(352-354)tCa>tTa p.S118L KLF5_ENST00000539231.1_Missense_Mutation_p.S27L|KLF5_ENST00000477333.1_3'UTR NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 118 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) GACAGTGCCTCAGTCGTAGAC 0.443000 33 110 0 0 0.827153 0 0 MYO10 4651 broad.mit.edu 37 5 16694540 16694540 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:16694540A>G ENST00000513610.1 - 27 4194 c.3740T>C c.(3739-3741)aTg>aCg p.M1247T MYO10_ENST00000515803.1_Missense_Mutation_p.M586T|MYO10_ENST00000274203.9_Missense_Mutation_p.M604T|MYO10_ENST00000505695.1_Missense_Mutation_p.M586T|MYO10_ENST00000427430.2_Missense_Mutation_p.M604T NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1247 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TTCAAAGTACATCAGCTTGGA 0.562000 58 134 0 0 0.870114 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913416 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:41266113C>G ENST00000349496.5 + 3 390 c.110C>G c.(109-111)tCt>tGt p.S37C CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30C NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 37 S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (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.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(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.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(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) GGAATCCATTCTGGTGCCACT 0.498000 S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 19 20 0 0 0.575678 0 0 LEPRE1 64175 broad.mit.edu 37 1 43232529 43232529 + Silent SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:43232529G>C ENST00000236040.4 - 1 154 c.114C>G c.(112-114)ctC>ctG p.L38L LEPRE1_ENST00000296388.5_Silent_p.L38L|LEPRE1_ENST00000397054.3_Silent_p.L38L NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 38 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CCTCGGCGAAGAGCAGATCAG 0.711000 33 53 0 0 0.827153 0 0 UBE2M 9040 broad.mit.edu 37 19 59069644 59069644 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:59069644C>T ENST00000253023.3 - 1 683 c.105G>A c.(103-105)caG>caA p.Q35Q NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 35 Interaction with UBA3. protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CCCTACCCTTCTGGATCCGCA 0.647000 17 58 0 0 0.575678 0 0 DEPDC5 9681 broad.mit.edu 37 22 32275583 32275583 + Nonsense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr22:32275583G>A ENST00000400246.1 + 38 4020 c.3878G>A c.(3877-3879)tGg>tAg p.W1293* DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.W1193*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.W1271*|DEPDC5_ENST00000382112.3_Nonsense_Mutation_p.W1284*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.W1262*|DEPDC5_ENST00000539165.1_Nonsense_Mutation_p.W110*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.W1293*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.W1262*|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1179S O75140 DEPD5_HUMAN DEP domain containing 5 1262 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CAGCGCAAGTGGTTTGAGGTG 0.612000 71 35 0 0 0.870114 0 0 ETV5 2119 broad.mit.edu 37 3 185766491 185766491 + Silent SNP G G A rs151057501 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:185766491G>A ENST00000306376.5 - 13 1716 c.1470C>T c.(1468-1470)ccC>ccT p.P490P ETV5_ENST00000434744.1_Silent_p.P490P|ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Silent_p.P532P NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 490 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) GGAGGTAAGCGGGGCTGTCTT 0.597000 T """TMPRSS2, SCL45A3""" Prostate 33 70 0 0 0.812448 0 0 NUP98 4928 broad.mit.edu 37 11 3720533 3720533 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:3720533C>A ENST00000324932.7 - 25 4208 c.3788G>T c.(3787-3789)tGg>tTg p.W1263L NUP98_ENST00000355260.3_Missense_Mutation_p.W1263L|NUP98_ENST00000359171.4_Missense_Mutation_p.W1263L NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1280 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CAGGTGGCCccatagggcttc 0.473000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 40 40 5.73435e-26 6.396e-26 0.870114 1 0 OR1L3 26735 broad.mit.edu 37 9 125438220 125438220 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:125438220G>A ENST00000304820.2 + 1 906 c.812G>A c.(811-813)cGa>cAa p.R271Q NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 GTCAAGGACCGAATAGCAACA 0.408000 8 21 0 0 0.335167 0 0 KIF1C 10749 broad.mit.edu 37 17 4910784 4910784 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:4910784G>A ENST00000320785.5 + 16 1795 c.1438G>A c.(1438-1440)Ggg>Agg p.G480R NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 480 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGCTGAGATGGGGGTGGCCGT 0.607000 65 311 0 0 0.870114 0 0 CLVS2 134829 broad.mit.edu 37 6 123319295 123319295 + Missense_Mutation SNP A A T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:123319295A>T ENST00000275162.5 + 2 1708 c.373A>T c.(373-375)Aat>Tat p.N125Y CLVS2_ENST00000368438.1_Intron NM_001010852.3 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TTTTGCTGCCAATTGGGATCA 0.483000 19 31 0 0 0.592651 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189001 50189001 + Nonsense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:50189001G>C ENST00000335999.6 - 8 2843 c.2642C>G c.(2641-2643)tCa>tGa p.S881* NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 877 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CTCGATGGCTGAGTGTGGGGC 0.662000 94 72 0 0 0.870114 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156945 26156945 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:26156945G>T ENST00000304218.3 + 1 387 c.327G>T c.(325-327)aaG>aaT p.K109N NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 109 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AACTCAACAAGAAGGCGGCCT 0.622000 13 28 0.00010058 0.000102705 0.411799 1 0 FLT3 2322 broad.mit.edu 37 13 28597565 28597565 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:28597565C>G ENST00000380982.4 - 19 2421 c.2340G>C c.(2338-2340)ttG>ttC p.L780F FLT3_ENST00000537084.1_Missense_Mutation_p.L780F|FLT3_ENST00000241453.7_Missense_Mutation_p.L780F P36888 FLT3_HUMAN fms-related tyrosine kinase 3 780 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TAAGCACATTCAAGTCCTCCT 0.353000 """Mis, O""" """AML, ALL""" 7 25 0 0 0.278610 0 0 PLAG1 5324 broad.mit.edu 37 8 57079893 57079893 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:57079893G>A ENST00000316981.3 - 5 891 c.412C>T c.(412-414)Cgt>Tgt p.R138C PLAG1_ENST00000429357.2_Missense_Mutation_p.R138C|PLAG1_ENST00000423799.2_Missense_Mutation_p.R56C NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 138 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GCCAAGTGACGTTTAAATCCA 0.448000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 9 30 0 0 0.387290 0 0 ANKRD12 23253 broad.mit.edu 37 18 9281059 9281059 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:9281059G>A ENST00000262126.4 + 13 6364 c.6124G>A c.(6124-6126)Gaa>Aaa p.E2042K ANKRD12_ENST00000400020.3_Missense_Mutation_p.E2019K|ANKRD12_ENST00000383440.2_Missense_Mutation_p.E2019K NM_015208.4 NP_056023.3 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 CAGCATTTACGAAATCCAGGA 0.418000 48 79 0 0 0.870114 0 0 RORA 6095 broad.mit.edu 37 15 60919554 60919554 + Missense_Mutation SNP C C T rs139672315 by1000genomes TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr15:60919554C>T ENST00000261523.5 - 1 108 c.20G>A c.(19-21)gGa>gAa p.G7E RORA_ENST00000309157.4_Missense_Mutation_p.G7E|RORA_ENST00000335670.6_Intron|RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA NM_134260.2 NP_599022.1 P35398 RORA_HUMAN RAR-related orphan receptor A 7 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 GTCACTGTCTCCTGGGGCCCC 0.547000 44 87 0 0 0.870114 0 0 ARID1A 8289 broad.mit.edu 37 1 27106953 27106953 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:27106953G>T ENST00000324856.7 + 20 6935 c.6564G>T c.(6562-6564)caG>caT p.Q2188H ARID1A_ENST00000540690.1_Missense_Mutation_p.Q516H|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1805H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q1971H NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2188 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.A2182fs*36(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TTGCAGTGCAGAAGGGCAGTA 0.627000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 41 106 3.05275e-18 3.30335e-18 0.864702 1 0 PYCR1 5831 broad.mit.edu 37 17 79892301 79892301 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:79892301G>A ENST00000337943.5 - 6 1140 c.698C>T c.(697-699)tCt>tTt p.S233F PYCR1_ENST00000403172.4_Missense_Mutation_p.S202F|PYCR1_ENST00000329875.8_Missense_Mutation_p.S233F|PYCR1_ENST00000577756.1_Intron|PYCR1_ENST00000402252.2_Missense_Mutation_p.S260F NM_153824.1 NP_722546.1 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 233 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) CCCACCAGGAGAGCTGACGTT 0.637000 5 40 0 0 0.184627 0 0 MDN1 23195 broad.mit.edu 37 6 90448114 90448114 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:90448114C>T ENST00000369393.3 - 33 4769 c.4654G>A c.(4654-4656)Gaa>Aaa p.E1552K MDN1_ENST00000428876.1_Missense_Mutation_p.E1552K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1552 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ATTAAATCTTCACGGCTTGTG 0.393000 25 37 0 0 0.681144 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 208 0 0 0.248553 0 0 EIF4G3 8672 broad.mit.edu 37 1 21177865 21177865 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:21177865G>C ENST00000602326.1 - 26 4091 c.3508C>G c.(3508-3510)Cag>Gag p.Q1170E EIF4G3_ENST00000264211.8_Missense_Mutation_p.Q1164E|EIF4G3_ENST00000374935.3_Missense_Mutation_p.Q884E|EIF4G3_ENST00000536266.1_Missense_Mutation_p.Q768E|EIF4G3_ENST00000537738.1_Missense_Mutation_p.Q654E|EIF4G3_ENST00000374937.3_Missense_Mutation_p.Q1170E|EIF4G3_ENST00000400422.1_Missense_Mutation_p.Q1164E NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1164 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TCTTGAGACTGATTGTCTAGC 0.522000 39 84 0 0 0.864702 0 0 CD1D 912 broad.mit.edu 37 1 158151257 158151257 + Frame_Shift_Del DEL T T - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:158151257delT ENST00000368171.3 + 3 573 c.74delT c.(73-75)cttfs p.L25fs NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 25 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCGCAAAGGCTTTTCCCCCTC 0.592 7 868 --- --- --- --- BHLHA15 168620 broad.mit.edu 37 7 97842081 97842083 + In_Frame_Del DEL CAG CAG - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:97842081_97842083delCAG ENST00000609256.1 + 2 586_588 c.460_462delCAG c.(460-462)cagdel p.Q158del BHLHA15_ENST00000314018.2_In_Frame_Del_p.Q158del Q7RTS1 BHA15_HUMAN basic helix-loop-helix family, member a15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding CCAGCACTACCAGCAGCAGCAGC 0.665 3 4 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66627383 66627383 + Frame_Shift_Del DEL G G - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:66627383delG ENST00000309602.4 + 2 1868 c.1625delG c.(1624-1626)cggfs p.R542fs LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 542 integral to membrane breast(1)|lung(1)|prostate(1) 3 GTTCGGGGCCGGGGGGCCGGA 0.716 21 58 --- --- --- --- PLEKHG6 55200 broad.mit.edu 37 12 6436757 6436759 + In_Frame_Del DEL GAA GAA - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:6436757_6436759delGAA ENST00000449001.2 + 14 2406_2408 c.1912_1914delGAA c.(1912-1914)gaadel p.E639del PLEKHG6_ENST00000011684.7_In_Frame_Del_p.E671del|PLEKHG6_ENST00000304581.8_In_Frame_Del_p.E201del|PLEKHG6_ENST00000396988.3_In_Frame_Del_p.E671del NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 671 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CTGGTCTGAGGAAGAAGATGGGG 0.631 5 6 --- --- --- --- CDKN1B 1027 broad.mit.edu 37 12 12871015 12871016 + Frame_Shift_Ins INS - - TTCT TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:12871015_12871016insTTCT ENST00000228872.4 + 1 958_959 c.242_243insTTCT c.(241-246)aagggcfs p.K81fs CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.K81fs NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 81 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) GAGGTGGAGAAGGGCAGCTTGC 0.614 72 102 --- --- --- --- RP11-167N24.4 0 broad.mit.edu 37 12 95794463 95794464 + RNA DEL CT CT - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:95794463_95794464delCT ENST00000548194.1 - 0 150 CTCTCTCTTGCtctctctctct 0.485 2 4 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28848080 28848080 + Frame_Shift_Del DEL C C - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:28848080delC ENST00000340394.8 + 23 3329 c.3117delC c.(3115-3117)ttcfs p.F1039fs ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.F1063fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.F1057fs|ATXN2L_ENST00000395547.2_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1034fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1052fs|ATXN2L_ENST00000336783.4_3'UTR NM_148415.2|NM_148416.2 NP_680781.1|NP_680782.1 Q8WWM7 ATX2L_HUMAN ataxin 2-like 1037 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 AGCTCCCCTTCCACCCCCCGG 0.582 104 46 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8222137 8222138 + Frame_Shift_Ins INS - - G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:8222137_8222138insG ENST00000361926.3 + 12 2052_2053 c.1942_1943insG c.(1942-1944)aggfs p.R648fs ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R648fs|ARHGEF15_ENST00000582060.1_3'UTR NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 648 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AGGGTGCCGGAGGGGGGGCGTG 0.634 7 812 --- --- --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:42980014_42980015delAG ENST00000417826.2 + 4 653_654 c.558_559delAG c.(556-561)gcagagfs p.E187fs CCDC103_ENST00000410006.2_Frame_Shift_Del_p.E187fs|FAM187A_ENST00000412523.2_Intron|FAM187A_ENST00000331733.4_5'UTR NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 187 p.E187K(1) endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) TGAGCCGGGCAGAGAGAGAGAG 0.644 11 116 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)ggcdel p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 8 118 --- --- --- --- KIAA1683 80726 broad.mit.edu 37 19 18378205 18378206 + Frame_Shift_Del DEL TC TC - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:18378205_18378206delTC ENST00000392413.4 - 3 359_360 c.144_145delGA c.(142-147)gagaaafs p.K49fs KIAA1683_ENST00000600359.3_Frame_Shift_Del_p.K3fs|KIAA1683_ENST00000600328.3_Frame_Shift_Del_p.K49fs NM_001145304.1 NP_001138776.1 Q9H0B3 K1683_HUMAN KIAA1683 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GGAGGCGCTTTCTCCATTTTGT 0.653 64 163 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41076449 41076450 + Frame_Shift_Ins INS - - A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:41076449_41076450insA ENST00000352632.3 + 33 7220_7221 c.7134_7135insA c.(7135-7137)aagfs p.K2379fs SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.K2379fs|SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.K1122fs Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2379 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) gggaccggcccaagccgcgacg 0.812 6 9 --- --- --- ---