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 GRM4 2914 broad.mit.edu 37 6 34059820 34059820 + Silent SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr6:34059820G>A ENST00000374181.3 - 2 745 c.576C>T c.(574-576)taC>taT p.Y192Y GRM4_ENST00000374177.3_Silent_p.Y123Y|GRM4_ENST00000455714.2_Silent_p.Y52Y|GRM4_ENST00000544773.1_Silent_p.Y23Y|GRM4_ENST00000538487.1_Silent_p.Y192Y|GRM4_ENST00000535756.1_Silent_p.Y59Y NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 192 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) AGAAGAAGTCGTAGCGGCTGT 0.637000 21 45 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 59 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46295175 46295175 + Silent SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr1:46295175G>A ENST00000361297.2 + 3 673 c.390G>A c.(388-390)tcG>tcA p.S130S MAST2_ENST00000372009.2_Silent_p.S130S NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 130 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTTGGCAGTCGTCAGGAGAAG 0.468000 18 42 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240560 39240560 + Silent SNP T T C TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr17:39240560T>C ENST00000391417.4 + 1 102 c.102T>C c.(100-102)tgT>tgC p.C34C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C34C(2) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 AGACCACCTGTTGCAGGACCA 0.647000 3 48 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38225434 38225434 + Nonsense_Mutation SNP T T A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr13:38225434T>A ENST00000379705.3 - 8 2904 c.2047A>T c.(2047-2049)Aga>Tga p.R683* TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R510*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R683*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R510*|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R683* Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 683 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGCTTTCTTCTCATCTTTTTC 0.383000 28 37 0 0 1 0 0 CLEC12A 160364 broad.mit.edu 37 12 10131592 10131592 + Missense_Mutation SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr12:10131592G>A ENST00000304361.4 + 2 301 c.119G>A c.(118-120)cGt>cAt p.R40H CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40H|CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50H NM_138337.5|NM_201623.3 NP_612210.4|NP_963917.2 Q5QGZ9 CL12A_HUMAN C-type lectin domain family 12, member A 40 integral to membrane|plasma membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 16 CATGTATGGCGTCCAGCAGCC 0.438000 32 61 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962396 10962396 + Silent SNP A A G TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr12:10962396A>G ENST00000240691.2 - 1 371 c.279T>C c.(277-279)aaT>aaC p.N93N NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 93 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GACTTGAATTATTGGCAAATG 0.383000 16 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179394741 179394741 + Missense_Mutation SNP T T A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr2:179394741T>A ENST00000589042.1 - 359 106701 c.106477A>T c.(106477-106479)Aca>Tca p.T35493S TTN_ENST00000342992.6_Missense_Mutation_p.T32925S|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26620S|TTN_ENST00000460472.2_Missense_Mutation_p.T26428S|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26553S|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T33852S|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33852 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) TTTTTTACTGTACAAGTATAA 0.348000 16 54 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128470957 128470957 + Missense_Mutation SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr7:128470957G>A ENST00000325888.8 + 1 527 c.266G>A c.(265-267)cGc>cAc p.R89H FLNC_ENST00000346177.6_Missense_Mutation_p.R89H NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 89 Actin-binding.|CH 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TTCCATCCGCGCCCCAACTTC 0.652000 20 66 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99192881 99192881 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr15:99192881C>T ENST00000268035.6 + 1 682 c.71C>T c.(70-72)tCg>tTg p.S24L IGF1R_ENST00000558762.1_Missense_Mutation_p.S24L NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 24 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GCCGCGCTCTCGCTCTGGCCG 0.622000 13 30 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 19 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41422975 41422975 + Silent SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr12:41422975G>A ENST00000551295.2 + 23 3051 c.2934G>A c.(2932-2934)gcG>gcA p.A978A CNTN1_ENST00000347616.1_Silent_p.A978A|CNTN1_ENST00000348761.2_Silent_p.A967A NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 978 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AGGTTCGCGCGCACAGTGATG 0.458000 4 163 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 54 0.00909568 0.00944551 1 1 0 KIAA2022 340533 broad.mit.edu 37 X 73964003 73964003 + Missense_Mutation SNP C C A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chrX:73964003C>A ENST00000373468.1 - 3 1040 c.389G>T c.(388-390)gGc>gTc p.G130V KIAA2022_ENST00000055682.5_Missense_Mutation_p.G130V Q5QGS0 K2022_HUMAN KIAA2022 130 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AGCTGACATGCCTGCAGGCTC 0.507000 40 20 8.16904e-11 8.64957e-11 1 1 0 ECHDC2 55268 broad.mit.edu 37 1 53377301 53377301 + Missense_Mutation SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr1:53377301G>A ENST00000536120.1 - 6 893 c.76C>T c.(76-78)Cgg>Tgg p.R26W ECHDC2_ENST00000358358.5_Missense_Mutation_p.R72W|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R26W|ECHDC2_ENST00000371522.4_Missense_Mutation_p.R72W Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 72 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 CGGTCCTCCCGCAGCTGGGCC 0.612000 3 42 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 7 88 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121766164 121766164 + Missense_Mutation SNP A A G TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr12:121766164A>G ENST00000261819.3 - 10 1380 c.1259T>C c.(1258-1260)aTc>aCc p.I420T ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 420 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGCGATGCTGATATCGATGAG 0.547000 10 24 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198711064 198711064 + Missense_Mutation SNP G G C TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr1:198711064G>C ENST00000367376.2 + 24 2635 c.2464G>C c.(2464-2466)Gtg>Ctg p.V822L PTPRC_ENST00000352140.3_Missense_Mutation_p.V774L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V824L|PTPRC_ENST00000348564.6_Missense_Mutation_p.V663L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V661L NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 822 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGACCACGGGGTGCCTGAGGA 0.453000 14 35 0 0 1 0 0 OR4D9 390199 broad.mit.edu 37 11 59282742 59282742 + Silent SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr11:59282742G>A ENST00000329328.3 + 1 357 c.357G>A c.(355-357)gcG>gcA p.A119A NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CTGTGATGGCGTTTGACCGCT 0.522000 7 85 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92181894 92181894 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr1:92181894C>T ENST00000212355.4 - 12 2230 c.1765G>A c.(1765-1767)Gga>Aga p.G589R TGFBR3_ENST00000525962.1_Missense_Mutation_p.G589R|TGFBR3_ENST00000370399.2_Missense_Mutation_p.G588R NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 589 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GTGATGTTTCCGTGGGGCTGT 0.483000 16 44 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75979718 75979718 + Missense_Mutation SNP T T C TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr15:75979718T>C ENST00000308508.5 - 3 3780 c.3688A>G c.(3688-3690)Att>Gtt p.I1230V NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1230 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TCTAGGGCAATGGTCACTTGT 0.607000 5 91 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342560 65342560 + Silent SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr3:65342560G>A ENST00000402939.2 - 23 3881 c.3882C>T c.(3880-3882)tgC>tgT p.C1294C MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1323 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding p.C1294C(2) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CCTTGGGTCGGCATGCCCCGC 0.672000 4 61 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 42 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220473305 220473305 + Splice_Site SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr2:220473305C>T ENST00000456909.1 + 15 1694 c.1603_splice c.e15-1 p.A535_splice STK11IP_ENST00000295641.10_Splice_Site_p.A546_splice Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 546 Glu-rich. protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCTCCACAGCGGAACTCTGT 0.632000 13 32 0 0 1 0 0 PGBD4 161779 broad.mit.edu 37 15 34394773 34394773 + Missense_Mutation SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr15:34394773G>A ENST00000397766.2 + 1 500 c.41G>A c.(40-42)aGt>aAt p.S14N NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 14 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) atgcgtgatagtaataccggt 0.348000 5 5 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95072807 95072807 + Silent SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr10:95072807G>A ENST00000371501.4 - 51 5981 c.5859C>T c.(5857-5859)taC>taT p.Y1953Y MYOF_ENST00000359263.4_Silent_p.Y1953Y|MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y Q9NZM1 MYOF_HUMAN myoferlin 1953 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTTTCTCTGCGTAGCATGGCC 0.473000 11 318 0 0 1 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149784871 149784871 + Silent SNP G G C TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr1:149784871G>C ENST00000331491.1 - 1 365 c.366C>G c.(364-366)ccC>ccG p.P122P NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 122 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 GGATGTCCTTGGGCATGATGG 0.602000 20 47 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110904384 110904384 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr2:110904384C>T ENST00000316534.4 - 14 1539 c.1466G>A c.(1465-1467)tGt>tAt p.C489Y NPHP1_ENST00000417665.1_Missense_Mutation_p.C432Y|NPHP1_ENST00000355301.4_Missense_Mutation_p.C370Y|NPHP1_ENST00000393272.3_Missense_Mutation_p.C488Y|NPHP1_ENST00000445609.2_Missense_Mutation_p.C433Y O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 488 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 CACCCAGCCACAGCTTAACTC 0.358000 19 51 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16727916 16727916 + Nonsense_Mutation SNP A A C TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr9:16727916A>C ENST00000380672.4 - 3 266 c.209T>G c.(208-210)tTa>tGa p.L70* BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380666.2_Nonsense_Mutation_p.L70*|BNC2_ENST00000380667.2_Intron NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) GGAGTCTCTTAAAGTCAAGtc 0.483000 35 70 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98129890 98129890 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr10:98129890C>T ENST00000357947.3 - 20 3070 c.2845G>A c.(2845-2847)Gac>Aac p.D949N NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 949 CUB 5. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TCCATGTAGTCGTAGCCGCAG 0.662000 15 18 0 0 1 0 0 GIT1 28964 broad.mit.edu 37 17 27908355 27908355 + Splice_Site SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr17:27908355C>T ENST00000225394.3 - 7 1010 c.e7+1 GIT1_ENST00000581348.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Splice_Site|GIT1_ENST00000394869.3_Splice_Site NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) TGGGCACTCACCTGTCAGCCA 0.552000 9 33 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30354657 30354657 + Missense_Mutation SNP C C G TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr21:30354657C>G ENST00000361371.4 - 5 760 c.610G>C c.(610-612)Gat>Cat p.D204H LTN1_ENST00000389194.2_Missense_Mutation_p.D250H|LTN1_ENST00000389195.2_Missense_Mutation_p.D250H NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 204 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CTGAGTGTATCAGGTGTTTCT 0.383000 23 51 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40940794 40940794 + Silent SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr17:40940794G>A ENST00000246914.5 + 11 2157 c.2136G>A c.(2134-2136)ccG>ccA p.P712P NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 712 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGGACAGCCCGGAAGAGATTG 0.532000 12 39 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5055945 5055945 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr16:5055945C>T ENST00000251170.7 + 12 1513 c.1333C>T c.(1333-1335)Cgg>Tgg p.R445W NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 445 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GAACACCAGGCGGAAGTTCCT 0.483000 4 8 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123359181 123359181 + Missense_Mutation SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr3:123359181G>A ENST00000360772.3 - 29 5168 c.4790C>T c.(4789-4791)aCg>aTg p.T1597M MYLK_ENST00000360304.3_Missense_Mutation_p.T1597M|MYLK_ENST00000354792.5_Missense_Mutation_p.T397M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.T1528M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1597M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1597M Q15746 MYLK_HUMAN myosin light chain kinase 1597 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTGGTGCCCGTCTTGTTGAC 0.562000 4 113 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32914649 32914649 + Missense_Mutation SNP T T C TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr13:32914649T>C ENST00000544455.1 + 11 6384 c.6157T>C c.(6157-6159)Tct>Cct p.S2053P BRCA2_ENST00000380152.3_Missense_Mutation_p.S2053P NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2053 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGTAAATTCATCTGCTTTCTC 0.348000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 21 17 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56650661 56650661 + Missense_Mutation SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr17:56650661G>A ENST00000389934.3 - 24 3629 c.3512C>T c.(3511-3513)aCg>aTg p.T1171M TEX14_ENST00000349033.5_Missense_Mutation_p.T1131M|TEX14_ENST00000240361.8_Missense_Mutation_p.T1177M NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1177 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTGAATATCCGTCAATGATCT 0.353000 4 167 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168282171 168282171 + Silent SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr1:168282171G>A ENST00000367821.3 + 8 1329 c.1278G>A c.(1276-1278)tcG>tcA p.S426S TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 426 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CAGTGGCCTCGCATCCCTTCG 0.627000 9 29 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53227629 53227629 + Missense_Mutation SNP C C G rs140416696 byFrequency TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr12:53227629C>G ENST00000330553.5 - 1 450 c.416G>C c.(415-417)cGc>cCc p.R139P NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 139 Head. keratin filament structural molecule activity 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 CTCCTGAGTGCGCACTCGCTG 0.607000 34 96 0 0 1 0 0 KCTD1 284252 broad.mit.edu 37 18 24039836 24039836 + Missense_Mutation SNP C C G TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr18:24039836C>G ENST00000417602.1 - 4 2186 c.2187G>C c.(2185-2187)ttG>ttC p.L729F KCTD1_ENST00000580059.1_Missense_Mutation_p.L121F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L121F|KCTD1_ENST00000408011.3_Missense_Mutation_p.L121F|KCTD1_ENST00000579973.1_Missense_Mutation_p.L121F NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 121 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) CCATCTCCAACAACATGGGCT 0.448000 10 124 0 0 1 0 0 ACTRT3 84517 broad.mit.edu 37 3 169486095 169486095 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr3:169486095C>T ENST00000330368.2 - 2 618 c.244G>A c.(244-246)Gag>Aag p.E82K NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 82 cytoplasm|cytoskeleton CACATGATCTCCATGTCCTCC 0.448000 13 39 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346534 70346534 + Missense_Mutation SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr4:70346534G>A ENST00000305107.6 - 6 1451 c.1405C>T c.(1405-1407)Cgc>Tgc p.R469C UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333C|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 469 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CCTTTATGGCGCATGACAAAT 0.478000 45 136 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131923454 131923454 + Missense_Mutation SNP G G A TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr6:131923454G>A ENST00000403834.3 - 17 2190 c.2017C>T c.(2017-2019)Cgc>Tgc p.R673C MED23_ENST00000368068.3_Missense_Mutation_p.R667C|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000540546.1_Missense_Mutation_p.R673C|MED23_ENST00000368060.3_Missense_Mutation_p.R667C|MED23_ENST00000368058.1_Missense_Mutation_p.R673C|MED23_ENST00000368053.4_Missense_Mutation_p.R673C|MED23_ENST00000545957.1_Missense_Mutation_p.R308C|MED23_ENST00000354577.4_Missense_Mutation_p.R673C Q9ULK4 MED23_HUMAN mediator complex subunit 23 667 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CTAAGGAAGCGTGTAAACTGC 0.433000 4 105 0 0 1 0 0 PCDHB3 0 broad.mit.edu 37 5 140482266 140482266 + Missense_Mutation SNP C C T TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr5:140482266C>T ENST00000231130.2 + 1 2033 c.2033C>T c.(2032-2034)cCg>cTg p.P678L NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 678 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGCGGCACCGGCCCAGGCC 0.672000 45 117 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55210075 55210075 + Missense_Mutation SNP T T G TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr7:55210075T>G ENST00000275493.2 + 2 362 c.185T>G c.(184-186)cTt>cGt p.L62R EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 62 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L62R(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GAGGTGGTCCTTGGGAATTTG 0.408000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 1332 72 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 4 9 --- --- --- --- RPL24 6152 broad.mit.edu 37 3 101401316 101401316 + Frame_Shift_Del DEL T T - TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr3:101401316delT ENST00000469605.1 - 5 368 c.350delA c.(349-351)agfs p.K117fs RPL24_ENST00000394077.3_Frame_Shift_Del_p.K117fs|RPL24_ENST00000495401.1_Intron P83731 RL24_HUMAN ribosomal protein L24 117 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome large_intestine(1)|lung(2)|urinary_tract(1) 4 TTGCTTAGCCTTTTTTGCTTC 0.368 7 147 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 7 67 --- --- --- --- RP11-307P5.1 0 broad.mit.edu 37 6 148018465 148018465 + RNA DEL A A - TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr6:148018465delA ENST00000427015.1 + 0 117 TTTGTTCTCTAAACCCAGTTT 0.388 2 4 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 4 3 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29562708 29562710 + In_Frame_Del DEL AAG AAG - TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr17:29562708_29562710delAAG ENST00000358273.4 + 28 4171_4173 c.3788_3790delAAG c.(3787-3792)aaa>a p.KE1263del NF1_ENST00000356175.3_In_Frame_Del_p.KE1263del NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1263 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.E1264K(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATGTTTTCTAAAGAAGTAGAATT 0.399 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 69 196 --- --- --- --- FCGRT 2217 broad.mit.edu 37 19 50028814 50028816 + In_Frame_Del DEL GAG GAG - TCGA-S9-A7IX-01A-12D-A34A-08 TCGA-S9-A7IX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b2fa849-8bef-4071-b65b-311633bdb61d 9022575a-72fa-44e3-b975-10d3c60e6297 g.chr19:50028814_50028816delGAG ENST00000221466.5 + 6 1458_1460 c.972_974delGAG c.(970-975)atg>at p.MR324del FCGRT_ENST00000426395.3_In_Frame_Del_p.MR324del|FCGRT_ENST00000599988.1_In_Frame_Del_p.MR58del|FCGRT_ENST00000596975.1_In_Frame_Del_p.MR232del NM_001136019.2 NP_001129491.1 P55899 FCGRN_HUMAN Fc fragment of IgG, receptor, transporter, alpha 324 antigen processing and presentation|female pregnancy|immune response integral to membrane|MHC class I protein complex IgG binding|receptor activity endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 9 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156) GGAGAAGGATGAGGAGTGGGCTG 0.616 13 24 --- --- --- ---