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
NFX1	0	broad.mit.edu	37	9	33313652	33313652	+	Splice_Site	SNP	G	G	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313652G>T	ENST00000379540.3	+	7	1511	c.1448_splice	c.e7-1	p.R483_splice	NFX1_ENST00000379521.4_Splice_Site_p.R483_splice|NFX1_ENST00000318524.6_Splice_Site_p.R483_splice	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	483					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTCTTTACAGGCACACAGTTC	0.478000													32	56					4.11147e-13	4.47425e-13	1	1	0
GRID2	2895	broad.mit.edu	37	4	94344041	94344041	+	Silent	SNP	C	C	T	rs140894316	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:94344041C>T	ENST00000282020.4	+	10	1725	c.1467C>T	c.(1465-1467)taC>taT	p.Y489Y	GRID2_ENST00000510992.1_Silent_p.Y394Y	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	489					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.Y489*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACGAAATTTACGTAGCACCGG	0.398000													19	34					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25465676	25465676	+	RNA	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:25465676A>G	ENST00000424208.1	+	0	3039				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1																						ATTGTCCTGAAAAGAGGTGAT	0.502000													49	109					0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	649822	649822	+	Silent	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:649822G>A	ENST00000576778.1	-	1	2769	c.1428C>T	c.(1426-1428)taC>taT	p.Y476Y	GEMIN4_ENST00000319004.5_Silent_p.Y487Y			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	487					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGAGGTCTGCGTAACATTCCA	0.537000													14	28					0	0	1	0	0
NFX1	0	broad.mit.edu	37	9	33313653	33313653	+	Splice_Site	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:33313653C>T	ENST00000379540.3	+	7	1512	c.1448_splice	c.e7-1	p.H484_splice	NFX1_ENST00000379521.4_Splice_Site_p.H484_splice|NFX1_ENST00000318524.6_Splice_Site_p.H484_splice	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	484					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCTTTACAGGCACACAGTTCG	0.483000													33	57					0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9270907	9270907	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:9270907C>T	ENST00000247956.6	+	7	891	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	ZNF317_ENST00000360385.3_Missense_Mutation_p.R164C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCCTATCACCGCCGCGACTA	0.537000													9	13					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140235770	140235770	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:140235770G>A	ENST00000307360.5	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657000													4	130					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22380963	22380963	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:22380963T>A	ENST00000263160.3	+	4	900	c.463T>A	c.(463-465)Ttc>Atc	p.F155I		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	155					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAGGGTTTTCGGAGCTGC	0.358000													13	25					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390007	158390007	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158390007G>T	ENST00000314902.2	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GTGAACATAGGACACCAAGAT	0.448000													24	39					1.55469e-16	1.71712e-16	1	1	0
VCP	7415	broad.mit.edu	37	9	35062993	35062993	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062993A>C	ENST00000358901.6	-	7	1688	c.793T>G	c.(793-795)Ttc>Gtc	p.F265V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGAAGAAGAAGGCTCCAGTC	0.468000													27	86					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90078963	90078963	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:90078963C>G	ENST00000405460.2	+	66	13350	c.13254C>G	c.(13252-13254)atC>atG	p.I4418M	GPR98_ENST00000425867.2_Missense_Mutation_p.I79M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4418					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGGCTGATCATGATCCCAG	0.448000													63	112					0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442816	116442816	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr6:116442816G>A	ENST00000327673.4	-	2	870	c.463C>T	c.(463-465)Cca>Tca	p.P155S	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P155S			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	155	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTTTTCCTGGCACAGAAATT	0.592000													17	16					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151921662	151921662	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:151921662C>G	ENST00000355193.2	-	19	3234	c.3016G>C	c.(3016-3018)Gag>Cag	p.E1006Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.E1006Q					lysine (K)-specific methyltransferase 2C																		ACAGTGCACTCAAGACACCTC	0.433000													9	15					0	0	1	0	0
INTS4L1	0	broad.mit.edu	37	7	64661057	64661057	+	RNA	SNP	C	C	T	rs62469298	by1000genomes	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:64661057C>T	ENST00000587624.1	+	0	1358																											AGTGATTTGGCCTCAGCAGCA	0.517000													11	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430936	179430936	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr2:179430936C>A	ENST00000589042.1	-	326	80147	c.79923G>T	c.(79921-79923)aaG>aaT	p.K26641N	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K25000N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17768N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17576N|TTN_ENST00000359218.5_Missense_Mutation_p.K17701N|TTN_ENST00000342992.6_Missense_Mutation_p.K24073N|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25000	Fibronectin type-III 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTACTCCCTTTTCAATTT	0.398000													4	151					1	1	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29587401	29587401	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:29587401G>A	ENST00000373779.3	+	7	1259	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	PTPRU_ENST00000428026.2_Missense_Mutation_p.R377H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R377H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R377H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R377H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R377H	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	377	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTCATCAGCCGCACCAAATGC	0.677000													19	19					0	0	1	0	0
RP13-996F3.4	0	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498000													3	2					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69341705	69341705	+	Silent	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr14:69341705G>A	ENST00000193403.6	-	21	2933	c.2550C>T	c.(2548-2550)cgC>cgT	p.R850R	ACTN1_ENST00000538545.2_Silent_p.R888R|ACTN1_ENST00000438964.2_Silent_p.R845R|ACTN1_ENST00000394419.4_Silent_p.R872R|ACTN1_ENST00000376839.3_Silent_p.R780R	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	850					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTGGCAGCTCGCGGCGCAGCT	0.652000													3	39					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156491	22156491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:22156491C>A	ENST00000397126.4	-	4	1493	c.1345G>T	c.(1345-1347)Gga>Tga	p.G449*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTGTCTCTCCAGTGTGAATT	0.383000													6	71					0.0293803	0.0297828	1	1	0
RGS9	8787	broad.mit.edu	37	17	63204085	63204085	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:63204085C>T	ENST00000449996.3	+	16	1312	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	RGS9_ENST00000262406.9_Silent_p.L417L|RGS9_ENST00000443584.3_Silent_p.L414L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	417					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TAAGGACATGCTGGCCAAAGC	0.403000													3	52					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196089432	196089432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:196089432C>A	ENST00000296328.4	-	9	1035	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	UBXN7_ENST00000535858.1_Nonsense_Mutation_p.E173*|UBXN7_ENST00000428095.1_Nonsense_Mutation_p.E159*	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	321							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAAAAAAGTTCAGATTCAGAT	0.443000													49	84					9.22156e-22	1.03393e-21	1	1	0
OR2T10	127069	broad.mit.edu	37	1	248756250	248756250	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:248756250A>G	ENST00000330500.2	-	1	850	c.820T>C	c.(820-822)Tca>Cca	p.S274P		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAAGGATGACATCATATCT	0.428000													20	41					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299039	58299039	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr13:58299039G>A	ENST00000377918.3	+	4	3117	c.3091G>A	c.(3091-3093)Gag>Aag	p.E1031K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1031					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTCCTCCAAGAGGTCCCCTC	0.502000													4	87					0	0	1	0	0
C4orf51	646603	broad.mit.edu	37	4	146601567	146601567	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:146601567A>T	ENST00000438731.1	+	1	212	c.212A>T	c.(211-213)cAg>cTg	p.Q71L		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	71										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGAGCAGGACAGCATGAGCCT	0.398000													6	33					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48623584	48623584	+	Missense_Mutation	SNP	C	C	T	rs150513888		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:48623584C>T	ENST00000328333.8	-	27	3753	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V1216M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1216	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCATCATCCACGGCGAAGAAG	0.602000													46	103					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435046	10435046	+	Silent	SNP	G	G	A	rs142129307	by1000genomes	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr17:10435046G>A	ENST00000245503.5	-	22	2985	c.2601C>T	c.(2599-2601)gaC>gaT	p.D867D	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.D867D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	867					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D867D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGGCAAGTTCGTCTTTAATTT	0.428000													47	76					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139251346	139251346	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr5:139251346C>T	ENST00000394770.1	-	4	1296	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	NRG2_ENST00000358522.3_Missense_Mutation_p.V358I|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000361474.1_Missense_Mutation_p.V358I|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000545385.1_Missense_Mutation_p.V358I|NRG2_ENST00000340391.3_Missense_Mutation_p.V155I|NRG2_ENST00000289409.4_Missense_Mutation_p.V358I|NRG2_ENST00000289422.7_Missense_Mutation_p.V358I			O14511	NRG2_HUMAN	neuregulin 2	358	EGF-like.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	p.V358I(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTAGCAGACGCCTCCATTG	0.572000													4	93					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680167	181680167	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:181680167G>A	ENST00000526775.1	+	8	1298	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R378H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R329H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R378H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R378H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	378	Binding to the beta subunit (By similarity).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGATTGAGCGTGAGCTGAAT	0.577000													6	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418502	179418502	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr2:179418502C>T	ENST00000589042.1	-	334	89454	c.89230G>A	c.(89230-89232)Gca>Aca	p.A29744T	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28103T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20871T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20679T|TTN_ENST00000359218.5_Missense_Mutation_p.A20804T|TTN_ENST00000342992.6_Missense_Mutation_p.A27176T|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28103	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGAATCTGCGATTCTTATC	0.433000													15	33					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178352895	178352895	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:178352895A>T	ENST00000264595.2	-	9	1135	c.1008T>A	c.(1006-1008)aaT>aaA	p.N336K		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGG	0.368000													3	52					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21842352	21842352	+	Splice_Site	SNP	T	T	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21842352T>A	ENST00000434536.1	+	12	1600		c.e12+2		XPO7_ENST00000252512.9_Splice_Site|XPO7_ENST00000433566.4_Splice_Site			Q9UIA9	XPO7_HUMAN	exportin 7						mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGCAGGAGGGTGAGTGTGCAG	0.567000													18	21					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125498222	125498222	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:125498222C>A	ENST00000303545.3	+	2	704	c.332C>A	c.(331-333)aCg>aAg	p.T111K		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	111					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTACAACACGTCAGCTTTT	0.428000													7	99					8.12818e-05	8.47163e-05	1	1	0
PLCL2	23228	broad.mit.edu	37	3	17051267	17051267	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:17051267G>C	ENST00000418129.2	+	2	516	c.51G>C	c.(49-51)atG>atC	p.M17I	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.M17I|PLCL2_ENST00000432376.1_Missense_Mutation_p.M17I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	143	Gly-rich.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTAATTCAATGGTTGAGGGTT	0.423000													24	36					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35062992	35062992	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:35062992A>G	ENST00000358901.6	-	7	1689	c.794T>C	c.(793-795)tTc>tCc	p.F265S		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	265					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAAGAAGAAGAAGGCTCCAGT	0.463000													29	86					0	0	1	0	0
RP11-108K14.8	0	broad.mit.edu	37	10	135215702	135215702	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:135215702C>T	ENST00000468317.2	+	9	893	c.638C>T	c.(637-639)gCt>gTt	p.A213V	MTG1_ENST00000477902.2_Missense_Mutation_p.A167V|MTG1_ENST00000317502.6_Missense_Mutation_p.A208V																							GGCGTGCTGGCTCCTCGGATT	0.687000													60	90					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21833903	21833903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr8:21833903C>T	ENST00000434536.1	+	7	763	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	XPO7_ENST00000252512.9_Nonsense_Mutation_p.Q212*|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Nonsense_Mutation_p.Q213*			Q9UIA9	XPO7_HUMAN	exportin 7	212					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGATGAAAGTCAGCATGGCTT	0.458000													5	106					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47364056	47364056	+	Splice_Site	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:47364056A>G	ENST00000232766.5	+	3	280		c.e3-1		KLHL18_ENST00000455924.2_Splice_Site	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18											endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCTTTCCTCTAGTGCCCTGGA	0.542000													20	22					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617958	111617958	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:111617958C>T	ENST00000374667.3	-	1	1281	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	85						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCGGCCGCCTCGGGGCAGCGT	0.652000													51	77					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854346	12854346	+	Silent	SNP	G	G	A	rs141935528		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:12854346G>A	ENST00000332296.7	+	3	673	c.570G>A	c.(568-570)acG>acA	p.T190T		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	190										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTAACGCCGATTAAAT	0.408000													9	576					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	46					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111257	7111257	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:7111257C>T	ENST00000306904.5	+	1	1093	c.906C>T	c.(904-906)taC>taT	p.Y302Y		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	302	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCCATCTTACGGAGGAGGAG	0.662000													4	20					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177032828	177032828	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr4:177032828G>A	ENST00000393643.2	+	2	349	c.97G>A	c.(97-99)Gcg>Acg	p.A33T	WDR17_ENST00000280190.4_Missense_Mutation_p.A57T|WDR17_ENST00000507824.2_Missense_Mutation_p.A57T|WDR17_ENST00000508596.1_Missense_Mutation_p.A33T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	57										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCATATTGTGCGACCCTGGC	0.363000													23	44					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639228	158639228	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:158639228C>G	ENST00000368148.3	-	14	1983	c.1803G>C	c.(1801-1803)aaG>aaC	p.K601N	SPTA1_ENST00000368147.3_Missense_Mutation_p.K601N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	601					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAACTTTTTCTTCTTGTTGA	0.423000													79	140					0	0	1	0	0
ATF7	11016	broad.mit.edu	37	12	53927005	53927005	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:53927005G>C	ENST00000420353.2	-	7	748	c.599C>G	c.(598-600)gCt>gGt	p.A200G	ATF7_ENST00000456903.4_Missense_Mutation_p.A200G|ATF7_ENST00000328463.7_Missense_Mutation_p.A211G|ATF7_ENST00000415113.1_Missense_Mutation_p.A179G|ATF7_ENST00000548446.2_Missense_Mutation_p.A211G|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.A200G	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	211	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CTGTCCATTAGCAAGATGCAT	0.512000													20	31					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													3	59					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880327	26880327	+	RNA	SNP	T	T	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:26880327T>G	ENST00000412114.1	+	0	562					NR_026793.1																						CCCAAACACATGCTGAAACAT	0.502000													12	20					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336870	82336870	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:82336870G>A	ENST00000329713.4	-	2	776	c.341C>T	c.(340-342)aCg>aTg	p.T114M	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	114	KH 1.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTTCCTGCCCGTCACAACAAA	0.572000													3	43					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12711190	12711190	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:12711190C>T	ENST00000376221.1	+	2	217	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	73						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CAAATTTATTCGTTTTTTACA	0.458000													4	108					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911837	88911837	+	Missense_Mutation	SNP	G	G	A	rs36006590	byFrequency	TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr11:88911837G>A	ENST00000263321.5	+	1	1218	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	239			R -> W (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGGGACTGGCGGGATGCAGAA	0.473000													26	56					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72845538	72845538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr16:72845538G>A	ENST00000268489.5	-	7	4474	c.3802C>T	c.(3802-3804)Cag>Tag	p.Q1268*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q354*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1268					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGTGCAGCTGGAGGTGGATC	0.607000													12	19					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931510	155931510	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:155931510C>G	ENST00000368316.1	-	15	1796	c.1326G>C	c.(1324-1326)agG>agC	p.R442S	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R471S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R470S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R469S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R442S			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	470					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGAGTTTGCGCCTCAGAAGTT	0.602000													23	33					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452642	130452642	+	Silent	SNP	T	T	C			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:130452642T>C	ENST00000356763.3	-	4	1757	c.1200A>G	c.(1198-1200)gaA>gaG	p.E400E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	400					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GAAGAATCAGTTCCAAAGCAG	0.398000													9	98					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860227	16860227	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:16860227C>T	ENST00000524140.2	+	6	1192	c.774C>T	c.(772-774)caC>caT	p.H258H	NWD1_ENST00000523826.1_Silent_p.H52H|NWD1_ENST00000552788.1_Silent_p.H258H|NWD1_ENST00000549814.1_Silent_p.H258H|NWD1_ENST00000339803.6_Silent_p.H123H|NWD1_ENST00000379808.3_Silent_p.H258H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	258							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACAAGACTCACGCCTGCTACC	0.607000													6	34					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370748	48370748	+	Silent	SNP	G	G	A	rs147280746		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr10:48370748G>A	ENST00000395702.2	+	2	443	c.216G>A	c.(214-216)gcG>gcA	p.A72A	ZNF488_ENST00000586537.1_Intron|ZNF488_ENST00000494156.1_Intron			Q96MN9	ZN488_HUMAN	zinc finger protein 488	72			A -> V (in dbSNP:rs35618062).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGGGCAGTGCGGAGCTGGCAC	0.701000													6	47					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15386729	15386729	+	Silent	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr1:15386729C>T	ENST00000376030.2	+	6	1272	c.978C>T	c.(976-978)gcC>gcT	p.A326A	KAZN_ENST00000361144.5_Silent_p.A320A|KAZN_ENST00000400797.3_Silent_p.A232A|KAZN_ENST00000422387.2_Silent_p.A326A|KAZN_ENST00000503743.1_Silent_p.A326A|KAZN_ENST00000400798.2_Silent_p.A232A	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	326	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CATCTGCCGCCGAAGGCGACC	0.672000													8	102					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763241	44763241	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:44763241C>T	ENST00000296091.4	+	4	1188	c.932C>T	c.(931-933)aCg>aTg	p.T311M	ZNF502_ENST00000436624.2_Missense_Mutation_p.T311M|ZNF502_ENST00000449836.1_Missense_Mutation_p.T311M	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCAAATCTTACGCAACATCAG	0.403000													12	147					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4776852	4776852	+	Silent	SNP	A	A	G			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr3:4776852A>G	ENST00000302640.8	+	43	5663	c.5313A>G	c.(5311-5313)ggA>ggG	p.G1771G	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.G1723G|ITPR1_ENST00000354582.6_Silent_p.G1771G|ITPR1_ENST00000423119.2_Silent_p.G1738G|ITPR1_ENST00000357086.4_Silent_p.G1738G|ITPR1_ENST00000443694.2_Silent_p.G1771G	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1786					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCTTAGGGGGAGGTTCCGGAT	0.463000													3	38					0	0	1	0	0
PMS2P3	0	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1															lung(1)	1						TCCTTTGGGGatatatatatat	0.302													2	4	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													4	8	---	---	---	---					
CBWD6	644019	broad.mit.edu	37	9	69238279	69238279	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr9:69238279delT	ENST00000377457.5	-	8	718	c.613delA	c.(613-615)cafs	p.T205fs	CBWD6_ENST00000382399.4_Frame_Shift_Del_p.T185fs|CBWD6_ENST00000377449.1_Frame_Shift_Del_p.T169fs	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	205							ATP binding			lung(4)	4						ACCAAGTCTGTTTTATTAATG	0.313													79	202	---	---	---	---					
BTG1	694	broad.mit.edu	37	12	92537884	92537884	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr12:92537884delT	ENST00000256015.3	-	2	849	c.488delA	c.(487-489)acfs	p.N163fs		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	163					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CATATTGTAGTTTTTGGAAGG	0.443			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	69	---	---	---	---					
UNC79	57578	broad.mit.edu	37	14	94097201	94097201	+	Frame_Shift_Del	DEL	C	C	-	rs139149620		TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr14:94097201delC	ENST00000553484.1	+	32	5883	c.5729delC	c.(5728-5730)gcfs	p.A1910fs	UNC79_ENST00000256339.4_Frame_Shift_Del_p.A1711fs|UNC79_ENST00000393151.2_Frame_Shift_Del_p.A1888fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.A1888fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1888						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTTCATCTGCCCCTACGTTA	0.368													24	64	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													2	4	---	---	---	---					
NTN5	126147	broad.mit.edu	37	19	49173724	49173724	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KC-A7FD-01A-11D-A33T-08	TCGA-KC-A7FD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f255429b-c98f-4c60-ad83-3b67ddb553c5	0958a78b-72c4-4579-8811-b61a2b1178de	g.chr19:49173724delG	ENST00000270235.4	-	2	615	c.520delC	c.(520-522)gcfs	p.R174fs	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	174	Laminin EGF-like 1.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CAGTGGCAGCGGGGGGGCCGG	0.766													2	4	---	---	---	---