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
ARHGAP4	393	broad.mit.edu	37	X	153175625	153175625	+	Splice_Site	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:153175625C>T	uc004fjk.2	-	17	2214	c.2156_splice	c.e17+1	p.G719_splice	ARHGAP4_uc011mzf.2_Splice_Site_p.G696_splice|ARHGAP4_uc004fjl.2_Splice_Site_p.G759_splice|ARHGAP4_uc010nup.2_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	719					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTGTACCCCAGGCAGCT	0.677000													26	26					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609250	32609250	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:32609250G>A	uc003obr.3	+	1	299	c.246G>A	c.(244-246)ccG>ccA	p.P82P	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Silent_p.P82P|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	81	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTTTTGACCCGCAGGGTGCAC	0.502000													20	13					0	0	1	0	0
PHOX2A	401	broad.mit.edu	37	11	71954958	71954958	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:71954958C>T	uc001osh.4	-	0	263	c.91G>A	c.(91-93)Ggc>Agc	p.G31S		NM_005169	NP_005160	O14813	PHX2A_HUMAN	Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.	31					noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAAGCCGCCGGGCTGGCTG	0.716000													4	11					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976825	16976825	+	RNA	SNP	C	C	A	rs2761525	by1000genomes	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:16976825C>A	uc010och.2	+	13		c.2546C>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		taataaaattcatatttttac	0.373000													3	25					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115143531	115143531	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:115143531G>A	uc001efd.1	-	13	2568	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.Y565Y	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	622	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-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)		GCATGAATGGGTAAACAAGGG	0.418000													24	43					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350456	100350456	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:100350456C>A	uc003uwj.3	+	13	2893	c.2728C>A	c.(2728-2730)Cca>Aca	p.P910T	ZAN_uc003uwk.3_Missense_Mutation_p.P910T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	910	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P910T(3)		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)			CACCATCTCCCCAGAAAAACC	0.498000													5	217					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108911498	108911498	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:108911498G>A	uc004eoi.2	-	11	1775	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	ACSL4_uc004eoj.2_Silent_p.L383L|ACSL4_uc004eok.2_Silent_p.L383L|ACSL4_uc010npp.1_Silent_p.L424L	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	424					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TTTTTAAACAGTAACCTTAAT	0.438000													35	36					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104822679	104822679	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:104822679G>A	uc001pid.1	-	2	389	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	CASP4_uc001pib.1_Missense_Mutation_p.L50F|CASP4_uc009yxg.1_Missense_Mutation_p.L15F|CASP4_uc010rux.1_Missense_Mutation_p.L106F|CASP4_uc010ruy.1_Missense_Mutation_p.L106F	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	106					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CAAAGCTTGAGGGCATCTGTA	0.413000													18	35					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70338671	70338671	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:70338671G>T	uc004dyy.3	+	0	266	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	MED12_uc011mpq.1_Missense_Mutation_p.D23Y|MED12_uc004dyz.3_Missense_Mutation_p.D23Y|MED12_uc004dza.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	23					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.D23Y(3)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCCTCCCGATGTTTACCC	0.677000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						16	24					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863078	154863078	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:154863078G>A	uc003wlu.1	+	0	533	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	157						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CCGCAAGTGCGTCTCCAACGT	0.622000													35	67					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089191	57089191	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:57089191G>A	uc002qnl.4	+	5	2070	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTCAGCCATCGTGGGTCTCTT	0.443000													34	63					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584263	88584263	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:88584263G>A	uc003hqv.3	+	5	1437	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	DMP1_uc003hqw.3_Missense_Mutation_p.E429K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	445					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.S444S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGTCAGAGCGAGGAAAGCCA	0.542000													70	17					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204502	56204502	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:56204502C>T	uc002lhj.4	-	4	3131	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ALPK2_uc002lhk.1_Missense_Mutation_p.A304T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	973							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTGGTGTGGCTGTGGTGTCT	0.458000													4	54					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	21					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25928532	25928532	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:25928532C>T	uc010ayu.3	-	16	3499	c.3393G>A	c.(3391-3393)tcG>tcA	p.S1131S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1131					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGGAAGTGACGAGAAGAGCA	0.527000													4	63					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42763366	42763366	+	Silent	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:42763366C>G	uc001uyl.2	+	14	1900	c.1833C>G	c.(1831-1833)gcC>gcG	p.A611A	DGKH_uc010tfh.2_Silent_p.A611A|DGKH_uc001uym.2_Silent_p.A611A|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Silent_p.A366A|DGKH_uc001uyo.2_Silent_p.A475A|DGKH_uc010tfj.2_Silent_p.A475A|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	611					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CCCAGAAAGCCGTCAAACCAA	0.458000													22	59					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117723945	117723945	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:117723945C>T	uc001twn.2	-	5	1965	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_uc021ren.1_Silent_p.S82S|NOS1_uc021reo.1_Silent_p.S82S|NOS1_uc001twm.2_Silent_p.S418S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	418					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCACACAGCGCGAGGCATTCC	0.562000													31	55					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820144	43820144	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:43820144G>A	uc001zrt.3	+	3	6940	c.6473G>A	c.(6472-6474)cGa>cAa	p.R2158Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2158						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCCTGCCCGACCCAGTCTG	0.617000													89	87					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067002	62067002	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:62067002A>G	uc002sbm.4	-	2	1239	c.1137T>C	c.(1135-1137)taT>taC	p.Y379Y	FAM161A_uc002sbn.4_Silent_p.Y189Y|FAM161A_uc010ypo.2_Silent_p.Y379Y|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Silent_p.Y270Y	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	379					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAGGTTTCGATAGAGCTCTT	0.433000													52	43					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79911276	79911276	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:79911276A>C	uc001vkz.2	-	18	2714	c.2700T>G	c.(2698-2700)ttT>ttG	p.F900L	RBM26_uc001vky.2_Missense_Mutation_p.F871L|RBM26_uc001vla.2_Missense_Mutation_p.F874L|RBM26_uc001vkx.2_Missense_Mutation_p.F610L|RBM26_uc010tia.2_Missense_Mutation_p.F255L	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	898	RRM 2.			E -> G (in Ref. 1; BAB55046/BAB55125).	mRNA processing		RNA binding|nucleotide binding|protein 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)		CGCTCTCCGTAAATGCAGAAA	0.507000													14	36					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468552	86468552	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:86468552C>T	uc003uid.3	+	3	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.D446D|GRM3_uc010leh.3_Silent_p.D166D	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	574					synaptic transmission	integral to plasma membrane		p.E573K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGTGGGAAGACGCCTGGGCCA	0.498000													36	57					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641083	29641083	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:29641083G>A	uc011dlw.2	-	3	956	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	185					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GACTGGTCCCGGAAGCTCTTC	0.557000													40	83					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164467497	164467497	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:164467497G>T	uc002uck.1	-	2	1156	c.845C>A	c.(844-846)cCc>cAc	p.P282H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	282	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAGGGGGGTGGGAGCAGGAAT	0.602000													32	39					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75884163	75884163	+	Silent	SNP	T	T	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:75884163T>C	uc001vjl.1	-	13	2855	c.2508A>G	c.(2506-2508)tcA>tcG	p.S836S	TBC1D4_uc010tht.1_Silent_p.S46S|TBC1D4_uc010thu.1_Silent_p.S46S|TBC1D4_uc010aer.2_Silent_p.S828S|TBC1D4_uc010aes.2_Silent_p.S773S	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	836						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCAGTTCTTTTGATTTCTTTC	0.433000													23	25					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156841545	156841545	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:156841545C>A	uc001fqh.1	+	6	904	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	NTRK1_uc001fqf.1_Missense_Mutation_p.S253Y|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Missense_Mutation_p.S283Y|NTRK1_uc009wsk.1_Missense_Mutation_p.S283Y	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	283	Ig-like C2-type 1.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTCAACGTCTCCTGTGAGTCT	0.582000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			9	72					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51825708	51825708	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:51825708C>A	uc001vff.2	+	3	481	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	FAM124A_uc001vfe.3_Missense_Mutation_p.L69M|FAM124A_uc001vfg.2_Missense_Mutation_p.L69M	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	69										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CGACAACGTCCTGGCGTGGAT	0.692000													10	33					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169995843	169995843	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:169995843C>T	uc002ues.3	-	73	13519	c.13306G>A	c.(13306-13308)Gta>Ata	p.V4436I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4436					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCTCCAATTACGACGATCAAG	0.507000													6	73					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	Splice_Site	SNP	G	G	A	rs4770716	by1000genomes	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:25168501G>A	uc001upm.3	+	10		c.1173_splice	c.e10+1		TPTE2P6_uc001upn.3_Splice_Site|TPTE2P6_uc001upo.3_Splice_Site					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TTTTCTCTTCGGTGAGTAATC	0.388000													6	21					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103497474	103497474	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:103497474T>A	uc004ely.3	-	2	611	c.542A>T	c.(541-543)gAc>gTc	p.D181V		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	181					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTGCACTCTGTCTTCAGTCAA	0.393000													64	136					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115981160	115981160	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:115981160G>T	uc001lbg.1	+	19	2968	c.2815G>T	c.(2815-2817)Gat>Tat	p.D939Y	TDRD1_uc001lbf.3_Missense_Mutation_p.D816Y|TDRD1_uc001lbh.1_Missense_Mutation_p.D926Y|TDRD1_uc001lbi.1_Missense_Mutation_p.D930Y|TDRD1_uc010qsc.2_Missense_Mutation_p.D543Y|TDRD1_uc001lbj.3_Missense_Mutation_p.D648Y	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	939					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTGCCAGTGGATAAAACTAT	0.363000													23	24					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614475	247614475	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:247614475G>A	uc010pyx.2	-	0	810	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-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)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTGGGAGTAGCTGGAAG	0.493000													15	177					0	0	1	0	0
C21orf2	755	broad.mit.edu	37	21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	rs140451304		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr21:45753071C>T	uc002zeq.2	-	3	426	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C21orf2_uc002zeo.1_Missense_Mutation_p.R32H|C21orf2_uc002zep.2_Missense_Mutation_p.R73H|C21orf2_uc002zer.2_Missense_Mutation_p.R73H	NM_004928	NP_004919	O43822	CU002_HUMAN	Homo sapiens chromosome 21 open reading frame 2 (C21orf2), mRNA.	73										endometrium(2)	2				Colorectal(79;0.0806)		GCTGGGGATGCGGTTCCTCCG	0.677000													10	19					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215815735	215815735	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:215815735C>G	uc002vew.3	-	44	6940	c.6720G>C	c.(6718-6720)gaG>gaC	p.E2240D	ABCA12_uc002vev.3_Missense_Mutation_p.E1922D|ABCA12_uc010zjn.2_Missense_Mutation_p.E1167D	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2240					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTTAATCTCTCAGCCCGCA	0.383000													81	93					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224831613	224831613	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:224831613A>G	uc002vnr.4	+	3	930	c.861A>G	c.(859-861)gaA>gaG	p.E287E		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	287	DRBM.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACCTGGGGAAACAGTATTGG	0.403000													40	105					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541016	72541016	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:72541016G>A	uc002jky.1	-	1	493	c.132C>T	c.(130-132)cgC>cgT	p.R44R		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	44	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R44C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCTTCTCATAGCGACACTGCA	0.532000													29	34					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6472683	6472683	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:6472683G>C	uc001qnw.3	-	1	1051	c.787C>G	c.(787-789)Cgt>Ggt	p.R263G	SCNN1A_uc001qnv.3_5'UTR|SCNN1A_uc001qnx.3_Missense_Mutation_p.R204G|SCNN1A_uc010sfb.2_Missense_Mutation_p.R227G	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	204					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCCACGCTACGGGCTCGACGG	0.741000													18	10					0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134009765	134009765	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:134009765A>G	uc001qhb.2	+	1	255	c.231A>G	c.(229-231)gtA>gtG	p.V77V	JAM3_uc009zcz.2_Silent_p.V32V	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	32	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TAGGGGCTGTAAATCTCAAAT	0.438000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	31					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104955062	104955062	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:104955062C>T	uc003yls.3	+	11	2184	c.1943C>T	c.(1942-1944)aCg>aTg	p.T648M	RIMS2_uc003ylp.3_Missense_Mutation_p.T870M|RIMS2_uc003ylw.2_Missense_Mutation_p.T662M|RIMS2_uc003ylq.3_Missense_Mutation_p.T662M|RIMS2_uc003ylr.3_Missense_Mutation_p.T709M|RIMS2_uc003ylt.3_Missense_Mutation_p.T255M	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	932					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAACTTCAGACGCATGATGTC	0.418000										HNSCC(12;0.0054)			15	77					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580595	7580595	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:7580595A>G	uc003mxp.1	+	22	4451	c.4172A>G	c.(4171-4173)tAc>tGc	p.Y1391C	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1391	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCAGTGGCTACCGGGCTCAG	0.463000													47	79					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17337954	17337954	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:17337954G>C	uc002nfp.3	+	2	400	c.398G>C	c.(397-399)gGa>gCa	p.G133A		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	Homo sapiens occludin/ELL domain containing 1 (OCEL1), mRNA.	133										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AAGCCTATTGGAGCCATCCCT	0.592000													12	142					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43526694	43526694	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:43526694G>A	uc002lbm.3	-	6	1712	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	EPG5_uc002lbo.1_Missense_Mutation_p.R538W	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	538					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATGGCTTCCGCTCGCTGGGC	0.478000													16	41					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31525450	31525450	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:31525450C>G	uc004dda.1	-	55	8582	c.8338G>C	c.(8338-8340)Gat>Cat	p.D2780H	DMD_uc004dcq.1_Missense_Mutation_p.D51H|DMD_uc004dcr.1_Missense_Mutation_p.D320H|DMD_uc004dcs.1_Missense_Mutation_p.D320H|DMD_uc004dct.1_Missense_Mutation_p.D320H|DMD_uc004dcu.1_Missense_Mutation_p.D320H|DMD_uc004dcv.1_Missense_Mutation_p.D320H|DMD_uc004dcw.2_Missense_Mutation_p.D1436H|DMD_uc004dcx.2_Missense_Mutation_p.D1439H|DMD_uc004dcz.2_Missense_Mutation_p.D2657H|DMD_uc004dcy.1_Missense_Mutation_p.D2776H|DMD_uc004ddb.1_Missense_Mutation_p.D2772H	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2780					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCATGTTATCCAAACGTCTT	0.413000													20	27					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:26880338G>C	uc001ist.3	+	1		c.573G>C								Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		GCTGAAACATGGAAGGTAAAA	0.483000													5	68					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)			45	8					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2816009	2816009	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:2816009G>A	uc002crk.3	+	10	6029	c.5480G>A	c.(5479-5481)cGg>cAg	p.R1827Q	SRRM2_uc002crj.1_Missense_Mutation_p.R1731Q|SRRM2_uc002crl.1_Missense_Mutation_p.R1827Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R1731Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1827	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding	p.R1827R(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACCTGCCCGGCAGGAAAGT	0.652000													10	45					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119013766	119013766	+	Silent	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:119013766T>A	uc003ecj.4	+	0	547	c.15T>A	c.(13-15)ggT>ggA	p.G5G		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	5					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAACAAGGGTGCTAAGCAGA	0.587000													9	81					0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146177862	146177862	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:146177862C>T	uc021xfa.1	-	3	489	c.49G>A	c.(49-51)Gga>Aga	p.G17R	PLSCR2_uc003evw.2_Missense_Mutation_p.G13R|PLSCR2_uc003evv.2_5'UTR	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	0					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ACAATATGTCCGGGAGGTCCT	0.483000													3	4					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657505	72657505	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:72657505G>A	uc003txs.1	-	12	2407	c.1479C>T	c.(1477-1479)taC>taT	p.Y493Y	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ccaccttgtcgtatttcgtct	0.512000													13	159					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748846	70748846	+	Silent	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:70748846C>G	uc001joy.3	+	0	370	c.258C>G	c.(256-258)ccC>ccG	p.P86P		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	86					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CCGAGGGGCCCGTCGCCCAGC	0.721000													4	65					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236752	30236752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:30236752C>T	uc022buf.1	+	0	55	c.55C>T	c.(55-57)Cga>Tga	p.R19*	MAGEB2_uc004dbz.3_Nonsense_Mutation_p.R19*	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	19							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCGCAAGGCCCGAGATGAGAC	0.547000													18	26					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422054	53422054	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:53422054C>T	uc001vhi.3	-	0	722	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PCDH8_uc001vhj.3_Missense_Mutation_p.R173H	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	173	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCGGCCAGGCGCACGGTCTG	0.716000													6	11					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383699	33383699	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:33383699C>T	uc003oeh.3	+	14	1764	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_3'UTR|PHF1_uc010jux.3_Missense_Mutation_p.R310C	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	510					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTTCCTAGACGCTCAGCACC	0.592000													48	92					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100865978	100865978	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:100865978T>G	uc003yiv.3	+	55	10547	c.10436T>G	c.(10435-10437)aTt>aGt	p.I3479S	VPS13B_uc003yiw.3_Missense_Mutation_p.I3454S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3479					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAGAACCCATTCAGTGTTCC	0.418000													241	33					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128938646	128938646	+	Splice_Site	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:128938646G>C	uc002tps.3	+	36	4261	c.4083_splice	c.e36+1	p.Q1361_splice	UGGT1_uc002tpr.3_Splice_Site_p.Q1337_splice	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1361	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATGCTGATCAGGTAGGCCCTT	0.378000													29	43					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220421348	220421348	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:220421348G>A	uc010fwk.3	-	12	4478	c.4164C>T	c.(4162-4164)gcC>gcT	p.A1388A	OBSL1_uc002vmh.1_Silent_p.A287A|OBSL1_uc010zli.1_Silent_p.A195A|OBSL1_uc010fwl.2_Silent_p.A1388A	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1388	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTGACATCGGCATCTGGTG	0.617000													24	56					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151899865	151899865	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:151899865C>T	uc022chj.1	-	0	936	c.936G>A	c.(934-936)ggG>ggA	p.G312G	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.G312G|MAGEA12_uc022chi.1_Silent_p.G312G|MAGEA12_uc004fgc.3_Silent_p.G312G	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	312										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACTCTTCCCCCTCTCTAA	0.547000													80	102					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29701048	29701048	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:29701048G>A	uc002hgg.3	+	57	8778	c.8395G>A	c.(8395-8397)Gtt>Att	p.V2799I	NF1_uc002hgh.3_Missense_Mutation_p.V2778I|NF1_uc010cso.3_Missense_Mutation_p.V1005I|NF1_uc010wbu.1_Non-coding_Transcript|NF1_uc021tum.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2799					MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	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)		CAAGGAGAACGTTGAACTCTC	0.493000			"""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)			6	62					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470756	10470756	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:10470756C>T	uc003wtc.3	-	3	1081	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	284					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGGCCCACCGGGGGGTTGC	0.662000													7	71					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160858039	160858039	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:160858039G>A	uc003qti.3	+	6	1111	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	362						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GTTCACAAGCGCAGTGGTGTA	0.448000													10	102					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958838	49958838	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:49958838G>A	uc004dow.1	-	4	650	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	AKAP4_uc004dou.1_Missense_Mutation_p.R167C|AKAP4_uc004dov.1_Missense_Mutation_p.R167C|AKAP4_uc010njp.1_5'UTR	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	176					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATTTCTAGACGTAGGTTTTGA	0.448000													49	90					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83793139	83793139	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:83793139C>A	uc003hnh.3	-	6	920	c.740G>T	c.(739-741)cGa>cTa	p.R247L	SEC31A_uc003hne.3_5'Flank|SEC31A_uc011ccl.2_Missense_Mutation_p.R247L|SEC31A_uc003hnl.3_Missense_Mutation_p.R247L|SEC31A_uc003hng.3_Missense_Mutation_p.R247L|SEC31A_uc011ccm.2_Missense_Mutation_p.R242L|SEC31A_uc003hni.3_Missense_Mutation_p.R247L|SEC31A_uc003hnk.3_Missense_Mutation_p.R247L|SEC31A_uc003hnf.3_Missense_Mutation_p.R247L|SEC31A_uc011ccn.2_Missense_Mutation_p.R247L|SEC31A_uc003hnm.3_Missense_Mutation_p.R247L|SEC31A_uc003hnn.2_Missense_Mutation_p.R247L|SEC31A_uc003hno.3_Missense_Mutation_p.R247L	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	247	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGAAGCAAATCGAAGATCCCA	0.473000													44	14					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246772	97246772	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:97246772T>A	uc010kcl.3	-	2	1314	c.836A>T	c.(835-837)tAc>tTc	p.Y279F	GPR63_uc003pou.3_Missense_Mutation_p.Y279F|GPR63_uc021zcy.1_Missense_Mutation_p.Y279F	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	279						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACCTTCAGGGTAGCTATGGAT	0.468000													19	64					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709178	77709178	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:77709178G>A	uc002jxa.3	+	2	756	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	246					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATCACATCCGACCACGGCAT	0.612000													7	94					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711965	45711965	+	Splice_Site	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:45711965G>T	uc001wwf.3	-	3	1117	c.658_splice	c.e3+1	p.E220_splice	MIS18BP1_uc010anh.2_Splice_Site	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	220					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATAGTTTACCGTAAGTTAAAT	0.343000													4	84					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	Splice_Site	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:197348739G>C	uc011bug.2	-	4		c.352_splice	c.e4-1		LOC220729_uc003fxy.3_Splice_Site|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		TAATTTTCTAGCTGTGAAAGA	0.398000													4	120					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29092971	29092971	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr22:29092971A>C	uc003adu.1	-	9	1085	c.1013T>G	c.(1012-1014)cTt>cGt	p.L338R	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.L117R|CHEK2_uc010gvh.1_Missense_Mutation_p.L247R|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.L381R|CHEK2_uc003adv.1_Intron|CHEK2_uc003adx.1_Missense_Mutation_p.L117R	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	338	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTTTCATGAAGGTACTACAC	0.398000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	12					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433770	72433770	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:72433770C>T	uc004ebi.3	-	0	941	c.559G>A	c.(559-561)Ggt>Agt	p.G187S		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	187	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex		p.G187S(2)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCTCATTACCATACATCTCT	0.408000													9	81					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:178916936G>A	uc003fjk.3	+	1	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	108	PI3K-ABD.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R108H(20)|p.G106_R108del(4)|p.R108L(3)|p.G106_R108delGNR(3)|p.R108P(2)|p.R108del(2)|p.N107S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAGGCAACCGTGAAGAAAAG	0.338000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			58	37					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127464289	127464289	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:127464289C>T	uc001liu.3	-	0	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	34					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCTCCAGGTCCGAGCGGTCCC	0.677000													19	46					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331566	28331566	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:28331566G>A	uc002dpd.3	+	3	1388	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	200	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						ATGACGCGCCGCGTGGGCTGC	0.726000													17	14					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132980594	132980594	+	Missense_Mutation	SNP	G	G	A	rs148528328		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:132980594G>A	uc003yte.3	+	8	1112	c.908G>A	c.(907-909)cGt>cAt	p.R303H		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	303						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTTGATGCTCGTAAAAAAGAT	0.428000													18	66					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216443	78216443	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:78216443A>T	uc022bzl.1	+	0	426	c.426A>T	c.(424-426)agA>agT	p.R142S	P2RY10_uc004ede.3_Missense_Mutation_p.R142S|P2RY10_uc004edf.3_Missense_Mutation_p.R142S	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	142						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TCAGGGCCAGAGACTGGAAGC	0.498000													9	99					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624296	89624296	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:89624296G>C	uc001kfb.3	+	0	1102	c.70G>C	c.(70-72)Gac>Cac	p.D24H	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	24	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.D24Y(9)|p.D24N(4)|p.D24fs*20(4)|p.D24G(4)|p.L23F(3)|p.D24E(2)|p.D24_L25del(2)|p.D24fs*19(2)|p.L23V(1)|p.L23*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATTCGACTTAGACTTGACCTG	0.463000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			30	47					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44185169	44185169	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:44185169G>A	uc003tkl.2	-	8	1650	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	GCK_uc003tkj.1_Missense_Mutation_p.R393C|GCK_uc003tkk.1_Missense_Mutation_p.R395C	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	394					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGGCTCTCGCGCATGCGGTTG	0.692000													9	20					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47451557	47451557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:47451557C>T	uc003crf.1	+	19	2365	c.2269C>T	c.(2269-2271)Cga>Tga	p.R757*	PTPN23_uc011baw.1_Nonsense_Mutation_p.R722*|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Nonsense_Mutation_p.R627*	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	757	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGGCCCACGACTGCCTGA	0.677000													3	14					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57572304	57572304	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:57572304C>T	uc001snd.3	+	26	4990	c.4524C>T	c.(4522-4524)acC>acT	p.T1508T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1508					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAAGTGGACCGGCCACAATG	0.617000													30	137					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134385763	134385763	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr9:134385763C>T	uc004cav.3	+	8	1084	c.882C>T	c.(880-882)caC>caT	p.H294H	POMT1_uc011mci.1_3'UTR|POMT1_uc004cax.3_Silent_p.H272H|POMT1_uc011mcj.2_Silent_p.H50H|POMT1_uc004cau.3_Silent_p.H272H|POMT1_uc004caw.3_Silent_p.H218H|POMT1_uc011mck.2_Silent_p.H155H|POMT1_uc011mcl.2_Silent_p.H120H|POMT1_uc011mcm.2_Silent_p.H242H	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	294					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CTGGGCCCCACGACCAAATCA	0.542000													22	29					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969411	235969411	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:235969411G>C	uc001hxj.2	-	5	3200	c.3025C>G	c.(3025-3027)Caa>Gaa	p.Q1009E	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.Q1009E	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1009					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.E1008D(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTTTCCTTGCTCCTCTTTG	0.348000													36	50					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974988	79974988	+	Splice_Site	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:79974988G>A	uc002kcy.3	+	16	2027	c.1930_splice	c.e16+1	p.A644_splice	ASPSCR1_uc002kcx.3_Splice_Site_p.A550_splice|ASPSCR1_uc021ufj.1_Splice_Site_p.A473_splice|ASPSCR1_uc002kda.3_Splice_Site_p.A498_splice	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	550							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGAAGCTGCCGGGTACTGCGG	0.721000			T	TFE3	alveolar soft part sarcoma								11	20					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27057848delC	uc001bmv.1	+	2	1929	c.1556delC	c.(1555-1557)tccfs	p.S519fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.S519fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S519fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S136fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	519					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	SWI/SNF complex|nBAF complex|npBAF 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)		CCTCCATACTCCCAGCAGCCA	0.632			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								153	284	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27106527	27106528	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27106527_27106528insGAGT	uc001bmv.1	+	19	6511_6512	c.6138_6139insGAGT	c.(6136-6141)gtggagfs	p.V2046fs	ARID1A_uc001bmu.1_Frame_Shift_Ins_p.V1829fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.V892fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.V374fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.V288fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2046					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	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.E2047*(6)	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)		GCAACAAAGTGGAGTGGTGGTG	0.550			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								41	84	---	---	---	---					
KIF1A	547	broad.mit.edu	37	2	241696841	241696843	+	In_Frame_Del	DEL	TCC	TCC	-	rs71779512		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:241696841_241696843delTCC	uc010fzk.3	-	26	2998_3000	c.2751_2753delGGA	c.(2749-2754)gaggat>gat	p.E917del	KIF1A_uc002vzy.3_Intron|KIF1A_uc002vzz.2_In_Frame_Del_p.E917del	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	697					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.Q916*(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ctcctcctcatcctcctcctcct	0.675													3	6	---	---	---	---					
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:128750605_128750607delCAG	uc022bbe.1	+	1	667_669	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_uc003ysh.1_In_Frame_Del_p.Q37del|MYC_uc003ysi.3_In_Frame_Del_p.Q52del			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	37	Poly-Gln.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	247	---	---	---	---					
OR11H12	440153	broad.mit.edu	37	14	19377911	19377911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:19377911delC	uc010tkp.2	+	0	318	c.318delC	c.(316-318)aacfs	p.N106fs		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAAAAAAAACATCTCCTTTG	0.388													22	82	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:56056605_56056607delTGC	uc002ivf.1	-	4	1187_1189	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_uc010dcn.1_In_Frame_Del_p.198_199QQ>Q	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	348	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463													8	175	---	---	---	---					
CHMP2A	27243	broad.mit.edu	37	19	59063715	59063716	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:59063715_59063716delAC	uc002qti.3	-	1	684_685	c.258_259delGT	c.(256-261)gtgtccfs	p.V86fs	CHMP2A_uc002qtj.3_Frame_Shift_Del_p.V86fs|CHMP2A_uc002qtk.3_Frame_Shift_Del_p.V86fs	NM_198426	NP_940818	O43633	CHM2A_HUMAN	Homo sapiens charged multivesicular body protein 2A (CHMP2A), transcript variant 2, mRNA.	86	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		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)		ATCTTGAGGGACACAGCCTGGA	0.545													55	123	---	---	---	---					
