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
SNX20	124460	broad.mit.edu	37	16	50707709	50707709	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:50707709G>T	ENST00000330943.4	-	4	730	c.559C>A	c.(559-561)Ccg>Acg	p.P187T	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	187	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGCAGCTCCGGCCGCGTGAGG	0.726000													3	8					0.004672	0.00482773	1	1	0
SERPINF1	5176	broad.mit.edu	37	17	1675256	1675256	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr17:1675256T>G	ENST00000254722.4	+	5	693	c.530T>G	c.(529-531)cTg>cGg	p.L177R		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	177					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CGCTTGGACCTGCAAGAGATC	0.542000													8	26					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	20					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407091	47407091	+	Silent	SNP	C	C	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:47407091C>G	ENST00000310638.4	-	1	46	c.15G>C	c.(13-15)gtG>gtC	p.V5V	CYP4A11_ENST00000371904.4_Silent_p.V5V|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.V5V|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	5				V -> A (in Ref. 8; AA sequence).	long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGGGCTCAGCACAGAGACAC	0.587000													5	65					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45401061	45401061	+	Silent	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr21:45401061G>A	ENST00000398063.2	+	8	1527	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	AGPAT3_ENST00000291572.8_Silent_p.V345V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.V345V|AGPAT3_ENST00000546158.1_Silent_p.V345V|AGPAT3_ENST00000398061.1_Silent_p.V345V|AGPAT3_ENST00000327505.2_Silent_p.V345V	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	345					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGGGGTTTGTGGGAGCAGGTA	0.562000													26	36					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132407600	132407600	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:132407600G>T	ENST00000337331.5	-	21	3105	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1007					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTTTATACAGTTGTTCTGCA	0.453000													4	91					0.00909568	0.00924479	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120349003	120349003	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:120349003C>T	ENST00000397843.2	+	37	3837	c.3671C>T	c.(3670-3672)aCa>aTa	p.T1224I	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T1121I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T1205I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1224					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACAGATGGGACACTAAAGGAA	0.443000			T	MLL	AML								10	37					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108143061	108143061	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:108143061C>A	ENST00000426128.2	-	4	1357	c.1232G>T	c.(1231-1233)cGa>cTa	p.R411L	PNPLA8_ENST00000436062.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R311L|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R411L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R411L	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	411					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTGTCTCAGTCGTAATAAATA	0.333000													15	32					0.00244969	0.00261864	1	1	0
MARCH7	64844	broad.mit.edu	37	2	160604779	160604779	+	Silent	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:160604779C>T	ENST00000259050.3	+	5	1100	c.978C>T	c.(976-978)tcC>tcT	p.S326S	MARCH7_ENST00000539065.1_Silent_p.S270S|MARCH7_ENST00000409175.1_Silent_p.S326S|MARCH7_ENST00000409591.1_Silent_p.S288S	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	326	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CTTCACAGTCCCGTAGTAATG	0.403000													4	53					0	0	1	0	0
METTL1	4234	broad.mit.edu	37	12	58163425	58163425	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:58163425A>C	ENST00000324871.7	-	4	1205	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V	METTL1_ENST00000257848.7_Missense_Mutation_p.F104C	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	methyltransferase like 1	166						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			GTCCGCTTGAAATGTGGGTCG	0.547000													21	114					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													4	95					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247737617	247737617	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:247737617G>T	ENST00000366491.2	+	7	778	c.281G>T	c.(280-282)aGg>aTg	p.R94M	GCSAML_ENST00000366488.4_Missense_Mutation_p.R114M|GCSAML_ENST00000366489.1_Missense_Mutation_p.R94M|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.R94M|GCSAML_ENST00000527084.1_Missense_Mutation_p.R82M|GCSAML_ENST00000527541.1_Missense_Mutation_p.R82M|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.R82M					germinal center-associated, signaling and motility-like																		GCCCTTCTTAGGACTTCTGTT	0.438000													6	33					8.12818e-05	9.33236e-05	1	1	0
SLC9A4	389015	broad.mit.edu	37	2	103120167	103120167	+	Splice_Site	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:103120167G>A	ENST00000295269.4	+	3	1437		c.e3+1			NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCATCCTGGCGTGAGTACAAA	0.433000													21	78					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239395	3239395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chrX:3239395G>T	ENST00000217939.6	-	5	4485	c.4331C>A	c.(4330-4332)tCa>tAa	p.S1444*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1444						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTTATGCTTGAGAGAGTTGT	0.448000													4	22					1.23904e-05	1.47732e-05	1	1	0
AKAP4	8852	broad.mit.edu	37	X	49963360	49963360	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chrX:49963360C>T	ENST00000376056.2	-	2	194	c.44G>A	c.(43-45)tGc>tAc	p.C15Y	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.C15Y|AKAP4_ENST00000376058.2_Missense_Mutation_p.C15Y|AKAP4_ENST00000358526.2_Missense_Mutation_p.C24Y			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	24					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)					ATCTACCTTGCACACACCCCT	0.428000													6	8					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454798	29454798	+	Silent	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr6:29454798G>T	ENST00000377127.3	-	1	940	c.882C>A	c.(880-882)acC>acA	p.T294T		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	294						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AATAGGAGGTGGTGACAAACA	0.483000													10	34					0.000978159	0.00108296	1	1	0
KIAA1407	57577	broad.mit.edu	37	3	113723435	113723435	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:113723435C>A	ENST00000545063.1	-	11	2174	c.1520G>T	c.(1519-1521)aGa>aTa	p.R507I	KIAA1407_ENST00000295878.3_Intron			Q8NCU4	K1407_HUMAN	KIAA1407	0										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACATTCTACTCTAGGAGAGAA	0.468000													13	32					2.27111e-07	2.81618e-07	1	1	0
RALGDS	5900	broad.mit.edu	37	9	135976954	135976954	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr9:135976954G>C	ENST00000393160.3	-	16	2595	c.2242C>G	c.(2242-2244)Cgc>Ggc	p.R748G	RALGDS_ENST00000372062.3_Missense_Mutation_p.R774G|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.R803G|RALGDS_ENST00000372047.3_Missense_Mutation_p.R791G|RALGDS_ENST00000393157.3_Missense_Mutation_p.R802G|RALGDS_ENST00000542690.1_Missense_Mutation_p.R874G	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	803					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGCTGACGCGGATGATACAG	0.642000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								5	90					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404202	20404202	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr14:20404202T>C	ENST00000285600.4	+	1	436	c.377T>C	c.(376-378)aTa>aCa	p.I126T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTATAGCCATATGTAAGCCT	0.448000													23	209					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50903079	50903079	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr22:50903079C>A	ENST00000380817.2	-	14	1703	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	SBF1_ENST00000348911.6_Missense_Mutation_p.R508L|SBF1_ENST00000390679.3_Missense_Mutation_p.R507L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	507					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCATCCAGCCGGGGGAAGGG	0.682000													6	79					0.0215528	0.0215528	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88886083	88886083	+	Silent	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr8:88886083G>A	ENST00000319675.3	-	1	213	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	39								p.F39F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522000													10	32					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15582761	15582761	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr19:15582761T>C	ENST00000292609.4	-	3	1412	c.1283A>G	c.(1282-1284)aAc>aGc	p.N428S	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.N428S			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	428					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGAGCGCATGTTGGCTGCGCA	0.677000													14	29					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133225531	133225531	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:133225531C>T	ENST00000320574.5	-	32	4176	c.4133G>A	c.(4132-4134)gGt>gAt	p.G1378D	POLE_ENST00000535270.1_Missense_Mutation_p.G1351D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1378					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATACGAAGCACCCTCCTCCGC	0.607000								DNA polymerases (catalytic subunits)					19	74					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158255181	158255181	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr4:158255181T>C	ENST00000296526.7	+	9	1500	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	GRIA2_ENST00000264426.9_Missense_Mutation_p.V392A|GRIA2_ENST00000449365.1_Missense_Mutation_p.V345A|GRIA2_ENST00000393815.2_Missense_Mutation_p.V345A|GRIA2_ENST00000507898.1_Missense_Mutation_p.V345A	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	392					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGGAGTGAAGTGGACAAAATG	0.398000													69	34					0	0	1	0	0
GPR180	160897	broad.mit.edu	37	13	95278279	95278279	+	Silent	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr13:95278279C>T	ENST00000376958.4	+	8	1171	c.1146C>T	c.(1144-1146)agC>agT	p.S382S		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	382						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCATTTTTAGCGACTACCAAA	0.338000													3	43					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													4	49					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23366679	23366679	+	Silent	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:23366679G>A	ENST00000343070.2	+	4	821	c.645G>A	c.(643-645)ttG>ttA	p.L215L	SCNN1B_ENST00000307331.5_Silent_p.L260L|SCNN1B_ENST00000568923.1_Intron|SCNN1B_ENST00000568085.1_Silent_p.L215L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	215					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCAGGCATTGACAGAGTGGT	0.577000													7	33					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105540917	105540917	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:105540917A>G	ENST00000332180.5	+	24	2594	c.2507A>G	c.(2506-2508)aAt>aGt	p.N836S		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	836					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGAATTATGAATACAACTGTA	0.353000													22	85					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73760382	73760382	+	Splice_Site	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:73760382C>A	ENST00000334126.7	-	27	5587	c.5361_splice	c.e27+1	p.L1787_splice	C2CD3_ENST00000313663.7_Splice_Site_p.L1787_splice			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1787						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCATACATACCAGTGATTTTG	0.438000													8	23					0.00448238	0.0047103	1	1	0
SGOL1	151648	broad.mit.edu	37	3	20215850	20215850	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:20215850A>T	ENST00000412997.1	-	6	1524	c.1173T>A	c.(1171-1173)aaT>aaA	p.N391K	SGOL1_ENST00000421451.1_Missense_Mutation_p.N391K|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.N391K|SGOL1_ENST00000306698.2_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.N391K|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000442720.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	391					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGCTCGTGGGATTCTGAATGT	0.443000													24	78					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173950089	173950089	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:173950089T>C	ENST00000367696.2	-	6	1178	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	RC3H1_ENST00000258349.4_Missense_Mutation_p.Y276C|RC3H1_ENST00000367694.2_Missense_Mutation_p.Y276C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	276					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGAGCTTCATAGGTTCTAAA	0.418000													5	33					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99661935	99661935	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:99661935G>T	ENST00000292450.4	+	4	1281	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.K338N|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K338N	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	373					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAGCGGGAAAGGCAGCCTCAT	0.517000													13	56					0.000151284	0.000170539	1	1	0
CYTIP	9595	broad.mit.edu	37	2	158300465	158300465	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:158300465G>A	ENST00000264192.3	-	1	189	c.68C>T	c.(67-69)gCg>gTg	p.A23V	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	23					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGAGCTATACGCTGGCCCAGC	0.512000													7	76					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763289	77763289	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr8:77763289T>G	ENST00000521891.2	+	10	4580	c.4132T>G	c.(4132-4134)Tta>Gta	p.L1378V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1333V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1352V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1333V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1333						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAAGATCAATTAAATGAACA	0.413000										HNSCC(33;0.089)			11	17					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7837366	7837366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:7837366G>A	ENST00000054666.6	+	3	334	c.219G>A	c.(217-219)tgG>tgA	p.W73*	VAMP3_ENST00000470357.1_Nonsense_Mutation_p.W45*	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	73	v-SNARE coiled-coil homology.				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AATATTGGTGGAAGAATTGCA	0.448000													13	21					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543139	14543139	+	Missense_Mutation	SNP	T	T	C	rs28535987	by1000genomes	TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr18:14543139T>C	ENST00000358970.5	-	1	6	c.7A>G	c.(7-9)Act>Gct	p.T3A	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	3			T -> A (in dbSNP:rs28535987).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAAACCTCAGTCACCATCTGC	0.542000													6	89					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263909	75263909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:75263909C>A	ENST00000546196.1	-	7	3678	c.2026G>T	c.(2026-2028)Gaa>Taa	p.E676*	BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E557*|BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E703*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E723*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E723*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E705*|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Nonsense_Mutation_p.E705*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E751*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E723*			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	705					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCAGTCGTTCAAACTGCTTC	0.667000													6	32					0.00198382	0.00215784	1	1	0
POLR1B	84172	broad.mit.edu	37	2	113306903	113306903	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:113306903G>T	ENST00000263331.5	+	4	1132	c.552G>T	c.(550-552)atG>atT	p.M184I	POLR1B_ENST00000409894.3_Missense_Mutation_p.M184I|POLR1B_ENST00000541869.1_Missense_Mutation_p.M222I|POLR1B_ENST00000417433.2_Missense_Mutation_p.M128I|POLR1B_ENST00000537335.1_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	184					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGTTGATTATGCCTCGGAGAA	0.358000													8	79					7.48243e-07	9.09629e-07	1	1	0
ORC5	5001	broad.mit.edu	37	7	103807333	103807333	+	Splice_Site	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:103807333C>T	ENST00000545943.1	-	11	1107		c.e11-1		ORC5_ENST00000297431.4_Splice_Site			O43913	ORC5_HUMAN	origin recognition complex, subunit 5						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GCTGAGAGGCCTATATAACAA	0.363000													8	91					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507760	18507760	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr19:18507760A>C	ENST00000339007.3	-	1	667	c.14T>G	c.(13-15)cTg>cGg	p.L5R	LRRC25_ENST00000595840.1_Missense_Mutation_p.L5R	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	5						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CGTCCATGCCAGGGTGCCCCC	0.617000													3	19					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055525	154055525	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:154055525G>A	ENST00000389740.2	-	4	2258	c.2159C>T	c.(2158-2160)gCt>gTt	p.A720V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	720						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A720V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCTGTAAGCTTTATTTAA	0.433000													27	63					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24879189	24879189	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr14:24879189C>T	ENST00000382554.3	+	4	2507	c.2189C>T	c.(2188-2190)aCc>aTc	p.T730I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	730					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCAGTGGCACCTTGGCCCTC	0.637000													17	9					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99854007	99854007	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr6:99854007T>G	ENST00000369239.5	-	8	1106	c.902A>C	c.(901-903)gAg>gCg	p.E301A	PNISR_ENST00000438806.1_Missense_Mutation_p.E301A	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	301						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ACTTGCAGCCTCAACATTTTC	0.393000													7	52					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24080933	24080933	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:24080933A>T	ENST00000418390.2	+	7	2123	c.1852A>T	c.(1852-1854)Ata>Tta	p.I618L		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	618	Activation domain (By similarity).|F-box.				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCTGTATCGCATAGAGGAATA	0.478000													17	33					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110385263	110385263	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:110385263G>C	ENST00000360185.4	-	14	1453	c.1289C>G	c.(1288-1290)aCa>aGa	p.T430R	TCHP_ENST00000550780.1_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.T432R|GIT2_ENST00000361006.5_Missense_Mutation_p.T480R|GIT2_ENST00000354574.4_Missense_Mutation_p.T432R|GIT2_ENST00000343646.5_Missense_Mutation_p.T400R|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.T480R|GIT2_ENST00000551209.1_Missense_Mutation_p.T429R|GIT2_ENST00000547815.1_3'UTR			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	480					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TACATTGGTTGTGGCCTGTTT	0.468000													18	80					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													4	4					0	0	1	0	0
JADE2	23338	broad.mit.edu	37	5	133914681	133914681	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr5:133914681G>A	ENST00000395003.1	+	11	2226	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Missense_Mutation_p.E727K|PHF15_ENST00000361895.2_Missense_Mutation_p.E684K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		683	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCCGGACGAGGCAGCCTC	0.667000													15	102					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892817	85892817	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:85892817C>T	ENST00000342375.3	-	6	629	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q|SFTPB_ENST00000519937.2_Missense_Mutation_p.R165Q	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	165					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.R165Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGGGTCCCGCAGAGGTTT	0.667000													18	76					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5323027	5323027	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:5323027A>T	ENST00000380224.1	-	1	199	c.150T>A	c.(148-150)gaT>gaA	p.D50E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGCTGTGATCATTCCAAA	0.502000													17	39					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917245	43917245	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:43917245A>C	ENST00000336086.6	-	4	3924	c.1688T>G	c.(1687-1689)cTc>cGc	p.L563R	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.L563R|URGCP_ENST00000402306.3_Missense_Mutation_p.L597R|URGCP_ENST00000223341.7_Missense_Mutation_p.L563R|URGCP_ENST00000453200.1_Missense_Mutation_p.L606R|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.L563R			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	606					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCAGGCCAGAGCGGCTCCCC	0.657000													21	62					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227	by1000genomes	TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448000													4	117					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590412	140590412	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr5:140590412A>G	ENST00000239450.2	+	1	2122	c.1933A>G	c.(1933-1935)Aag>Gag	p.K645E	PCDHB12_ENST00000541609.1_Missense_Mutation_p.K308E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		645	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGTCAAGGACAATGG	0.721000													12	63					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532687	42532687	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr18:42532687A>G	ENST00000282030.5	+	4	3678	c.3382A>G	c.(3382-3384)Atg>Gtg	p.M1128V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1128						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTTGGTGACATGCAGCCTTC	0.522000									Schinzel-Giedion syndrome				13	70					0	0	1	0	0
SNHG12	85028	broad.mit.edu	37	1	28906819	28906820	+	RNA	INS	-	-	A	rs147786269		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:28906819_28906820insA	ENST00000488745.1	-	0	1100				SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA																							gactccgtctcaaaaaaaaaaa	0.490													5	4	---	---	---	---					
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)agafs	p.R497fs	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381													7	82	---	---	---	---					
