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
PCDH15	65217	broad.mit.edu	37	10	55944968	55944968	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:55944968G>T	ENST00000373965.2	-	13	1781	c.1387C>A	c.(1387-1389)Cag>Aag	p.Q463K	PCDH15_ENST00000361849.3_Missense_Mutation_p.Q456K|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q434K|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q456K|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q461K|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q463K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q434K|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q419K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q67K|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q456K|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q456K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	456	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATACCAGTCTGTGTGACGGTG	0.393000										HNSCC(58;0.16)			15	44					1.3612e-06	1.56834e-06	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50723068	50723068	+	Silent	SNP	G	G	T	rs56402642	by1000genomes	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:50723068G>T	ENST00000404971.1	-	16	4504	c.3165C>A	c.(3163-3165)gcC>gcA	p.A1055A	NRXN1_ENST00000401669.2_Silent_p.A1015A|NRXN1_ENST00000401710.1_Silent_p.A24A|NRXN1_ENST00000405472.3_Silent_p.A1007A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.A1007A|NRXN1_ENST00000406859.3_Silent_p.A1015A|NRXN1_ENST00000406316.2_Silent_p.A1015A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1015	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCTGGCTCCGGCGGTGATTT	0.473000													3	32					0.00024832	0.00026781	1	1	0
PPP1R26	9858	broad.mit.edu	37	9	138376829	138376829	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:138376829G>A	ENST00000356818.2	+	4	1022	c.473G>A	c.(472-474)gGt>gAt	p.G158D	PPP1R26_ENST00000401470.3_Missense_Mutation_p.G158D|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G158D|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G158D|PPP1R26_ENST00000605660.1_Missense_Mutation_p.G158D	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	158						nucleolus	protein binding										GCCCAGCCAGGTGCAGCCCAG	0.652000													29	51					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645629	7645629	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:7645629G>C	ENST00000340209.4	+	5	859	c.562G>C	c.(562-564)Ggc>Cgc	p.G188R	RBFOX1_ENST00000553186.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G226R|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G203R|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G203R|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G203R|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G183R|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G200R|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G226R			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	183	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGTGGTAGAGGGCCGTAAAAT	0.463000													12	105					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20601122	20601122	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:20601122C>G	ENST00000202677.6	-	11	1528	c.1386G>C	c.(1384-1386)gaG>gaC	p.E462D		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	462					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCTATCAGTCTCGGAAAATC	0.383000													9	40					0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812721	31812721	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr21:31812721T>C	ENST00000334067.3	+	1	125	c.76T>C	c.(76-78)Tat>Cat	p.Y26H		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	26						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AGTTTCCACTTATAATTTGTT	0.473000													10	42					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22055238	22055238	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:22055238C>A	ENST00000376980.3	-	10	1389	c.1098_splice	c.e10-1	p.V367_splice	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	367	SANT 1.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TTGGTTGTCACCTGTTTCAAA	0.383000													43	77					2.35958e-20	3.27867e-20	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55493809	55493809	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493809G>A	ENST00000543010.1	+	6	886	c.743G>A	c.(742-744)aGg>aAg	p.R248K	NLRP2_ENST00000538819.1_Missense_Mutation_p.R224K|NLRP2_ENST00000263437.6_Missense_Mutation_p.R245K|NLRP2_ENST00000448584.2_Missense_Mutation_p.R248K|NLRP2_ENST00000427260.2_Missense_Mutation_p.R225K|NLRP2_ENST00000537859.1_Missense_Mutation_p.R226K|NLRP2_ENST00000339757.7_Missense_Mutation_p.R226K|NLRP2_ENST00000391721.4_Missense_Mutation_p.R224K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	248	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTCAGCTGCAGGGAGCTCAGC	0.557000													13	44					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72756405	72756405	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:72756405C>T	ENST00000325509.4	-	1	298	c.9G>A	c.(7-9)acG>acA	p.T3T	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	3					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TCACCGAGCCCGTGGACATCC	0.711000													16	42					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155319221	155319221	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:155319221T>C	ENST00000368346.3	-	19	8105	c.7466A>G	c.(7465-7467)gAt>gGt	p.D2489G	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2484G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2489	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCTAGGGGATCAGAGATCTT	0.413000													22	36					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959061	25959061	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:25959061C>A	ENST00000356865.6	-	10	2215	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	702					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACACCAGTGCGGCCTCATCC	0.662000													16	49					2.23348e-06	2.54961e-06	1	1	0
MUC4	4585	broad.mit.edu	37	3	195505842	195505842	+	Silent	SNP	T	T	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:195505842T>G	ENST00000463781.3	-	2	13068	c.12609A>C	c.(12607-12609)acA>acC	p.T4203T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4203T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.597000													3	10					0	0	1	0	0
CFC1	55997	broad.mit.edu	37	2	131356280	131356280	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:131356280A>C	ENST00000259216.4	-	3	444	c.182T>G	c.(181-183)gTg>gGg	p.V61G		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	61					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					GCTCCCAGTCACCTCTCCGAA	0.617000													4	72					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531603	84531603	+	RNA	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:84531603C>A	ENST00000527857.1	+	0	1625					NR_026851.1																						GCCATTCCTCCATGTTTGTAT	0.468000													30	23					9.78306e-22	1.37482e-21	1	1	0
ANO5	203859	broad.mit.edu	37	11	22257772	22257772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:22257772G>T	ENST00000324559.8	+	8	1029	c.712G>T	c.(712-714)Gaa>Taa	p.E238*		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	238						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTGGGATTGAAAGACTGCT	0.388000													10	46					3.86212e-05	4.21425e-05	1	1	0
KIAA1211L	343990	broad.mit.edu	37	2	99454586	99454586	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:99454586G>C	ENST00000397899.2	-	3	566	c.235C>G	c.(235-237)Ctg>Gtg	p.L79V	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like									p.L79L(1)									ACTTACTCCAGCTCATCCTCG	0.517000													10	33					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20836999	20836999	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:20836999C>T	ENST00000262715.5	-	54	7759	c.7719G>A	c.(7717-7719)aaG>aaA	p.K2573K	TEP1_ENST00000556935.1_Silent_p.K2465K	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2573					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CATCTCTGTCCTTCGAAGCTG	0.527000													14	34					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113420613	113420613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113420613G>A	ENST00000297405.5	-	34	5783	c.5539C>T	c.(5539-5541)Cag>Tag	p.Q1847*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1807*|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1743*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1847	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGTGATCTGATTACCTGAA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	64					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55098523	55098523	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55098523G>T	ENST00000251377.3	+	8	1435	c.1302G>T	c.(1300-1302)acG>acT	p.T434T	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.T434T|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Intron|LILRA2_ENST00000251376.3_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGACTCCACGACTAGTGAGT	0.567000													6	32					3.59834e-05	3.938e-05	1	1	0
ZNF572	137209	broad.mit.edu	37	8	125989609	125989609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:125989609C>T	ENST00000319286.5	+	3	1253	c.1099C>T	c.(1099-1101)Cag>Tag	p.Q367*		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAGTTTGGGTCAGAACTGCAA	0.393000										HNSCC(60;0.17)			12	57					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228141120	228141120	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:228141120T>G	ENST00000396578.3	+	27	2109	c.1947T>G	c.(1945-1947)agT>agG	p.S649R	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	649	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAGAGCTCAGTGTTTCAACAC	0.507000													5	33					0	0	1	0	0
NPY	4852	broad.mit.edu	37	7	24324966	24324966	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:24324966C>A	ENST00000407573.1	+	3	397	c.107C>A	c.(106-108)cCg>cAg	p.P36Q	NPY_ENST00000242152.2_Missense_Mutation_p.P36Q|NPY_ENST00000405982.1_Missense_Mutation_p.P36Q			P01303	NPY_HUMAN	neuropeptide Y	36					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCGGACAACCCGGGCGAGGAC	0.672000													14	39					4.36969e-10	5.45843e-10	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100791000	100791000	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:100791000T>C	ENST00000358544.2	+	42	7706	c.7595T>C	c.(7594-7596)aTg>aCg	p.M2532T	VPS13B_ENST00000357162.2_Missense_Mutation_p.M2507T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2532					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAACCACACATGTATCTTCGA	0.418000													51	82					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322576	233322576	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:233322576G>T	ENST00000295463.3	+	7	932	c.856_splice	c.e7+1	p.M285_splice		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	285					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCATCTCATGGGTAATGACC	0.617000													50	125					9.52127e-25	1.35861e-24	1	1	0
PCDH7	5099	broad.mit.edu	37	4	30723480	30723480	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:30723480C>A	ENST00000361762.2	+	1	1444	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	PCDH7_ENST00000543491.1_Missense_Mutation_p.P146T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	146	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTCCCGTCGCCCGTGCTCAC	0.652000													3	9					1	1	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98920175	98920175	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:98920175C>A	ENST00000477737.1	+	26	3635	c.3431C>A	c.(3430-3432)cCt>cAt	p.P1144H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1144										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAATTTTGCCCTCGGAGTGCA	0.378000													3	29					0.115264	0.117159	1	1	0
TRAV17	28666	broad.mit.edu	37	14	22466319	22466319	+	RNA	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:22466319C>T	ENST00000390445.2	+	0	396																											GATTAAGAGTCACGCTTGACA	0.443000													16	51					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71236315	71236315	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:71236315C>G	ENST00000418814.2	+	15	4142	c.3528C>G	c.(3526-3528)gcC>gcG	p.A1176A	FAM135A_ENST00000370479.3_Silent_p.A963A|FAM135A_ENST00000505769.1_Silent_p.A756A|FAM135A_ENST00000457062.2_Silent_p.A963A|FAM135A_ENST00000361499.3_Silent_p.A980A|FAM135A_ENST00000505868.1_Silent_p.A1176A	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1176										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AATTTGATGCCATTACAAAGC	0.398000													4	99					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90368415	90368415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:90368415G>A	ENST00000405460.2	+	86	18400	c.18304G>A	c.(18304-18306)Gct>Act	p.A6102T	GPR98_ENST00000425867.2_Missense_Mutation_p.A1763T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6102					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)		AAGGACAAATGCTGCAGGTTT	0.423000													30	97					0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392797	22392797	+	RNA	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:22392797C>T	ENST00000390440.2	+	0	395																											CTGGGGGACTCAGCAATGTAT	0.507000													43	100					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351767	117351767	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:117351767C>T	ENST00000160373.3	-	23	4907	c.4816G>A	c.(4816-4818)Gtt>Att	p.V1606I	CFTR_ENST00000429014.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1606										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACTCTTGAAACACCCAACTCA	0.418000													23	46					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368485	145368485	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:145368485A>T	ENST00000342960.5	+	84	10498	c.10463A>T	c.(10462-10464)cAg>cTg	p.Q3488L	NBPF10_ENST00000369338.1_Missense_Mutation_p.Q604L|NBPF10_ENST00000369339.2_Missense_Mutation_p.Q606L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3488										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGTCTTACAGGACTCACTG	0.458000													84	492					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073029	34073029	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:34073029G>A	ENST00000254466.6	-	6	1514	c.1487C>T	c.(1486-1488)cCt>cTt	p.P496L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P480L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	496					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCTTGGACAGGGGTTGGAGA	0.637000													19	72					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086565	53086565	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:53086565T>A	ENST00000540331.1	+	5	1676	c.1451T>A	c.(1450-1452)gTt>gAt	p.V484D	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.V484D|ZNF701_ENST00000391785.3_Missense_Mutation_p.V418D	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGTGGCAAGGTTTTTAATCAC	0.358000													18	34					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312206	46312206	+	Silent	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:46312206A>T	ENST00000510861.1	-	6	716	c.543T>A	c.(541-543)ccT>ccA	p.P181P	GABRA2_ENST00000515082.1_Silent_p.P181P|GABRA2_ENST00000507069.1_Silent_p.P181P|GABRA2_ENST00000514090.1_Silent_p.P181P|GABRA2_ENST00000356504.1_Silent_p.P181P|GABRA2_ENST00000540012.1_Silent_p.P126P|GABRA2_ENST00000381620.4_Silent_p.P181P			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	181					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAAATTTCAGAGGACATGAAT	0.383000													5	51					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102453025	102453025	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:102453025G>A	ENST00000360184.4	+	8	2627	c.2463G>A	c.(2461-2463)gcG>gcA	p.A821A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	821	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGGCATTGCGTTGGTGTGGG	0.502000													16	103					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645173	67645173	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:67645173C>A	ENST00000264010.4	+	3	882	c.438C>A	c.(436-438)ggC>ggA	p.G146G	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	146					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAAAGAGGGCCTTGCGGAAA	0.483000													41	76					2.2871e-25	3.27611e-25	1	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951432	119951432	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:119951432G>C	ENST00000307142.4	+	4	1698	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R501T|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	501						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAGGGAGAGAATGGATCAG	0.517000													14	35					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57563202	57563202	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:57563202G>T	ENST00000524630.1	+	5	933		c.e5+1		CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000526772.1_Intron			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGAGACCACGGTAAACTAAGA	0.493000													3	13					0.115264	0.117159	1	1	0
PON2	5445	broad.mit.edu	37	7	95035502	95035502	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:95035502T>C	ENST00000536183.1	-	8	1081	c.898A>G	c.(898-900)Atc>Gtc	p.I300V	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.I267V|PON2_ENST00000222572.3_Missense_Mutation_p.I279V	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	279					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTACCCAGATGTCCCCCGAG	0.403000													20	104					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152443755	152443755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:152443755C>T	ENST00000367255.5	-	146	26811	c.26210G>A	c.(26209-26211)gGc>gAc	p.G8737D	SYNE1_ENST00000356820.4_Missense_Mutation_p.G3261D|SYNE1_ENST00000347037.5_5'UTR|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.G8689D|SYNE1_ENST00000265368.4_Missense_Mutation_p.G8737D|SYNE1_ENST00000539504.1_Missense_Mutation_p.G892D|SYNE1_ENST00000354674.4_Missense_Mutation_p.G915D|SYNE1_ENST00000341594.5_Missense_Mutation_p.G8349D|SYNE1_ENST00000423061.1_Missense_Mutation_p.G8689D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8737					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAGCCGCGGCCGGACCGACC	0.557000										HNSCC(10;0.0054)			43	68					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36677511	36677511	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:36677511T>C	ENST00000431169.1	-	5	696	c.396A>G	c.(394-396)acA>acG	p.T132T	AOAH_ENST00000535891.1_Silent_p.T100T|AOAH_ENST00000258749.5_Silent_p.T132T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	132					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TAAATTTCCATGTCTCCTATA	0.358000													5	34					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390393	158390393	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:158390393C>A	ENST00000314902.2	-	1	263	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q88H(1)		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)					TGGTCTTCTTCTGGGACAGCA	0.478000													26	127					6.36457e-07	7.40206e-07	1	1	0
RYR1	6261	broad.mit.edu	37	19	38973678	38973678	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:38973678C>T	ENST00000355481.4	+	32	4763	c.4632C>T	c.(4630-4632)aaC>aaT	p.N1544N	RYR1_ENST00000360985.3_Silent_p.N1544N|RYR1_ENST00000359596.3_Silent_p.N1544N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1544	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGAACCCAACACTAAGCTAT	0.567000													36	81					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653540	19653540	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr21:19653540T>A	ENST00000284885.3	-	22	2520		c.e22-2			NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15						proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGTTTCTCCTGAAAATTGTA	0.378000													18	35					0	0	1	0	0
ANKH	56172	broad.mit.edu	37	5	14716842	14716842	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:14716842G>A	ENST00000284268.6	-	9	1444	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	ANKH_ENST00000535119.1_Missense_Mutation_p.R174W	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	372					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GAGAAGATCCGCAAAGGAACA	0.408000													17	41					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35985814	35985814	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:35985814T>A	ENST00000297866.5	+	10	1745	c.1679T>A	c.(1678-1680)gTa>gAa	p.V560E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	560										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TATGCACCTGTAGCAATGCTT	0.433000													13	16					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457728	110457728	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:110457728C>T	ENST00000378402.5	+	38	5734	c.5630C>T	c.(5629-5631)cCc>cTc	p.P1877L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1877	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCATCAACCCCAATGAAGTC	0.433000										HNSCC(38;0.096)			8	24					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205191	66205191	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:66205191G>C	ENST00000503581.1	-	4	650	c.113C>G	c.(112-114)tCa>tGa	p.S38*	EYS_ENST00000370616.2_Nonsense_Mutation_p.S38*|EYS_ENST00000370618.3_Nonsense_Mutation_p.S38*|EYS_ENST00000393380.2_Nonsense_Mutation_p.S38*|EYS_ENST00000370621.3_Nonsense_Mutation_p.S38*|EYS_ENST00000342421.5_Nonsense_Mutation_p.S38*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	38					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TACCACATATGATGAGGGTTG	0.393000													25	77					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94481338	94481338	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:94481338G>C	ENST00000370225.3	-	37	5355	c.5269C>G	c.(5269-5271)Cca>Gca	p.P1757A	ABCA4_ENST00000536513.1_Missense_Mutation_p.P27A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1757					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGTTTTCTGGAGAAGTGTAG	0.527000													12	15					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076224	57076224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:57076224C>A	ENST00000532437.1	-	5	4272	c.3961G>T	c.(3961-3963)Gag>Tag	p.E1321*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E1321*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1321	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGGTCACCTCCAAATCCCTC	0.607000													47	283					3.50607e-19	4.8176e-19	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130419171	130419171	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:130419171G>A	ENST00000370904.1	-	11	1532	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	IGSF1_ENST00000370910.1_Silent_p.L208L|IGSF1_ENST00000370900.1_Silent_p.L217L|IGSF1_ENST00000370901.4_Silent_p.L217L|IGSF1_ENST00000370903.3_Silent_p.L217L|IGSF1_ENST00000361420.3_Silent_p.L217L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	217	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.L217L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGCTTCAGGGGGTTGCTG	0.537000													37	22					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135095776	135095776	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:135095776C>A	ENST00000368563.2	-	16	2716	c.2360G>T	c.(2359-2361)gGg>gTg	p.G787V	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G815V|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G787V|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.G380V|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G657V	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	787					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGCGGGCAGCCCCAGGACGGT	0.647000													9	20					3.09899e-07	3.64992e-07	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138545898	138545898	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:138545898T>C	ENST00000440172.1	-	16	5282	c.5234A>G	c.(5233-5235)aAc>aGc	p.N1745S	KIAA1549_ENST00000422774.1_Missense_Mutation_p.N1745S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.N1695S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1745						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCAGGGATTGTTGGCCGTCTG	0.587000			O	BRAF	pilocytic astrocytoma								13	41					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36215989	36215989	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:36215989G>A	ENST00000420124.1	+	10	3528		c.e10+1		KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Splice_Site																							GGATTTTAAGGTATGGCATTG	0.567000													12	40					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468369	26468369	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:26468369G>T	ENST00000312541.5	+	8	1424	c.1176G>T	c.(1174-1176)gtG>gtT	p.V392V	BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Silent_p.V331V|BTN2A1_ENST00000429381.1_3'UTR	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	392	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AGGTGGAGGTGGAAAACGTGA	0.552000													32	75					4.74835e-14	6.31412e-14	1	1	0
CNTN5	53942	broad.mit.edu	37	11	100126551	100126551	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:100126551C>T	ENST00000524871.1	+	17	2355	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.L689L|CNTN5_ENST00000528682.1_Silent_p.L689L|CNTN5_ENST00000279463.3_Silent_p.L689L|CNTN5_ENST00000418526.2_Silent_p.L615L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	689	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TACGGCCACACTGTCCTGGAG	0.502000													10	94					0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083883	176083883	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176083883C>G	ENST00000298564.10	+	4	638	c.489C>G	c.(487-489)tcC>tcG	p.S163S	TSPAN17_ENST00000515708.1_Intron|TSPAN17_ENST00000503045.1_Intron|TSPAN17_ENST00000405525.2_Intron|TSPAN17_ENST00000310032.8_Intron|TSPAN17_ENST00000508164.1_Intron			Q96FV3	TSN17_HUMAN	tetraspanin 17	247						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCACCTGTCCTCTGTCTTAC	0.637000													16	55					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716099	101716099	+	Nonsense_Mutation	SNP	C	C	A	rs146369620		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:101716099C>A	ENST00000342239.3	-	4	1223	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.E378*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	378					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCGGTGTCCTCGTCCTGATAA	0.552000													19	71					7.45023e-12	9.63078e-12	1	1	0
EP400	57634	broad.mit.edu	37	12	132445398	132445398	+	Silent	SNP	C	C	T	rs141965996	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:132445398C>T	ENST00000333577.4	+	2	343	c.234C>T	c.(232-234)agC>agT	p.S78S	EP400_ENST00000389562.2_Silent_p.S78S|EP400_ENST00000389561.2_Silent_p.S78S|EP400_ENST00000330386.6_Silent_p.S78S|EP400_ENST00000332482.4_Silent_p.S78S			Q96L91	EP400_HUMAN	E1A binding protein p400	78					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTGCAGAGCGTGGGCCCTG	0.632000													19	106					0	0	1	0	0
LYPD6	130574	broad.mit.edu	37	2	150305597	150305597	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:150305597C>G	ENST00000334166.4	+	3	410	c.153C>G	c.(151-153)acC>acG	p.T51T	LYPD6_ENST00000409381.1_Silent_p.T51T	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	51	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		AATGTTTCACCTGTGAAAAGG	0.433000													4	20					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130297717	130297717	+	Silent	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:130297717G>C	ENST00000257359.6	-	1	1171	c.465C>G	c.(463-465)ccC>ccG	p.P155P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	155					negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCTCCGGCGGGACCCCAGC	0.731000													3	3					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237850782	237850782	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:237850782C>T	ENST00000366574.2	+	63	9362	c.9045C>T	c.(9043-9045)gtC>gtT	p.V3015V	RYR2_ENST00000360064.6_Silent_p.V3013V|RYR2_ENST00000542537.1_Silent_p.V2999V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3015	Calmodulin-binding (Potential).|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTTCTTGTCAGGCATAGGA	0.408000													6	8					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227942649	227942649	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:227942649G>T	ENST00000396625.3	-	25	2155	c.1948C>A	c.(1948-1950)Cca>Aca	p.P650T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P650T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	650	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTCACACCTGGGTGGCCTGGA	0.517000													5	34					0.014758	0.0151668	1	1	0
CYR61	3491	broad.mit.edu	37	1	86048138	86048138	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:86048138A>C	ENST00000451137.2	+	4	898	c.674A>C	c.(673-675)cAa>cCa	p.Q225P		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	225					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AACCCTTTACAAGGCCAGAAA	0.463000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	34					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304651	176304651	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176304651C>A	ENST00000329542.4	+	10	1856	c.1582C>A	c.(1582-1584)Cct>Act	p.P528T	UNC5A_ENST00000261961.3_Missense_Mutation_p.P488T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	528	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGCCCAGCCCTGACAGCTG	0.642000													10	23					0.000442599	0.000475955	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193188666	193188666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:193188666C>T	ENST00000342695.4	-	9	1247	c.925G>A	c.(925-927)Gat>Aat	p.D309N	ATP13A4_ENST00000295548.3_Missense_Mutation_p.D309N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.D309N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	309					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGCCTTCATCCACCACACAG	0.532000													6	165					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171327026	171327026	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:171327026C>T	ENST00000296933.6	-	4	783	c.413G>A	c.(412-414)tGt>tAt	p.C138Y	FBXW11_ENST00000425623.2_Missense_Mutation_p.C119Y|FBXW11_ENST00000265094.5_Missense_Mutation_p.C151Y|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.C117Y	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	151	F-box.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCATTCTTTACATACCAGCTC	0.448000													49	148					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493831	55493831	+	Silent	SNP	G	G	C	rs151132029	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493831G>C	ENST00000543010.1	+	6	908	c.765G>C	c.(763-765)ccG>ccC	p.P255P	NLRP2_ENST00000538819.1_Silent_p.P231P|NLRP2_ENST00000263437.6_Silent_p.P252P|NLRP2_ENST00000448584.2_Silent_p.P255P|NLRP2_ENST00000427260.2_Silent_p.P232P|NLRP2_ENST00000537859.1_Silent_p.P233P|NLRP2_ENST00000339757.7_Silent_p.P233P|NLRP2_ENST00000391721.4_Silent_p.P231P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	255	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTGGGCCCGTGCAGTTTTG	0.527000													17	42					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59518528	59518528	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:59518528G>C	ENST00000038176.3	-	12	1038	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E	NSMAF_ENST00000427130.2_Missense_Mutation_p.Q307E|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	276					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCTCTATCTTGAGGTTCATAG	0.333000													18	23					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	166					0	0	1	0	0
AKAP10	11216	broad.mit.edu	37	17	19844263	19844263	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:19844263G>A	ENST00000225737.6	-	7	1279	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	AKAP10_ENST00000395536.3_Silent_p.T374T	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	374					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CAGTTCCACTGGTCAGCACTT	0.428000													15	29					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103925	53103925	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:53103925G>T	ENST00000408890.4	+	1	577	c.561G>T	c.(559-561)aaG>aaT	p.K187N		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	187										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGTGCCCCAAGGGAAGCGCTA	0.711000													23	81					2.89027e-11	3.67222e-11	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157739803	157739803	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:157739803G>T	ENST00000361516.3	-	4	496	c.448C>A	c.(448-450)Cag>Aag	p.Q150K	FCRL2_ENST00000392274.3_Missense_Mutation_p.Q150K|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	150	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCAGGACCTGGTTTTCTCTG	0.567000													4	64					0.00909568	0.00947892	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73675171	73675171	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:73675171A>C	ENST00000264448.6	+	8	1625	c.1514A>C	c.(1513-1515)gAc>gCc	p.D505A	ALMS1_ENST00000377715.1_Missense_Mutation_p.D505A|ALMS1_ENST00000409009.1_Missense_Mutation_p.D463A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	505					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTTGATTCAGACATTGGATCT	0.413000													25	66					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19744535	19744535	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:19744535C>A	ENST00000222567.5	-	2	333	c.263G>T	c.(262-264)gGt>gTt	p.G88V		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	88						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AATAGGGACACCTAAAAGGCT	0.348000													10	39					1.33987e-11	1.71411e-11	1	1	0
DGKG	1608	broad.mit.edu	37	3	186024695	186024695	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:186024695G>A	ENST00000265022.3	-	3	678	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	DGKG_ENST00000344484.4_Missense_Mutation_p.H47Y|DGKG_ENST00000544847.1_Missense_Mutation_p.H47Y|DGKG_ENST00000382164.4_Missense_Mutation_p.H47Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	47					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTTACCTCATGTGGGTCATAT	0.398000													31	35					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27421764	27421764	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:27421764G>A	ENST00000527372.1	-	30	4794	c.4614C>T	c.(4612-4614)gcC>gcT	p.A1538A	MYO18A_ENST00000533112.1_Silent_p.A1538A|MYO18A_ENST00000531253.1_Silent_p.A1538A|MYO18A_ENST00000354329.4_Silent_p.A1538A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1538					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTTGACCTTGGCCAGAGAAG	0.537000													20	91					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95574010	95574010	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:95574010C>G	ENST00000526495.1	-	19	3030	c.2739G>C	c.(2737-2739)aaG>aaC	p.K913N	DICER1_ENST00000343455.3_Missense_Mutation_p.K913N|DICER1_ENST00000527414.1_Missense_Mutation_p.K913N|DICER1_ENST00000541352.1_Missense_Mutation_p.K913N|DICER1_ENST00000393063.1_Missense_Mutation_p.K913N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	913	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTTTGTATACTTTGTACTGG	0.348000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				24	52					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77764436	77764436	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:77764436A>T	ENST00000354212.4	-	17	3186	c.2933T>A	c.(2932-2934)gTg>gAg	p.V978E	MAGI2_ENST00000522391.1_Missense_Mutation_p.V978E|MAGI2_ENST00000419488.1_Missense_Mutation_p.V964E	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	978	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGCCATTCACTGCTAGGAT	0.502000													27	69					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47839824	47839824	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:47839824G>A	ENST00000371764.4	+	4	422	c.413G>A	c.(412-414)gGg>gAg	p.G138E	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	138	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAAGTCTGGGAAGTTGGAA	0.453000													20	41					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145742066	145742066	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:145742066C>A	ENST00000428558.2	-	5	478	c.437G>T	c.(436-438)gGg>gTg	p.G146V	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	146					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGGACAGGCCCTGTACCTGG	0.642000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				14	29					0.146539	0.148541	1	1	0
ZBTB7A	51341	broad.mit.edu	37	19	4054047	4054047	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:4054047C>T	ENST00000322357.4	-	2	1462	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G395D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	395					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGCTTGCCGGCGCCCTG	0.657000													4	57					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798181	55798181	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55798181G>C	ENST00000313555.1	+	1	287	c.287G>C	c.(286-288)gGg>gCg	p.G96A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTCCTTATGGGTGTGCACTA	0.448000													9	26					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052278	17052278	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:17052278T>A	ENST00000418129.2	+	2	1527	c.1062T>A	c.(1060-1062)aaT>aaA	p.N354K	PLCL2_ENST00000432376.1_Missense_Mutation_p.N354K|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.N354K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	480					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						GGCCGGACAATGAACCTGTAA	0.438000													16	37					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123615799	123615799	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:123615799G>T	ENST00000422452.2	-	22	3795	c.3732C>A	c.(3730-3732)caC>caA	p.H1244Q	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.H1237Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GATAGTATTTGTGAGCAGGAC	0.408000													9	32					2.74318e-10	3.43824e-10	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158669774	158669774	+	Silent	SNP	C	C	A	rs144922102		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:158669774C>A	ENST00000359610.2	-	1	712	c.669G>T	c.(667-669)gtG>gtT	p.V223V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAATTACAGCCACAATACCAT	0.463000													23	56					3.10358e-05	3.42687e-05	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166229801	166229801	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:166229801A>G	ENST00000375437.2	+	21	4206	c.3916A>G	c.(3916-3918)Aga>Gga	p.R1306G	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1306G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1306G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1306G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1306					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CAAATCCCTCAGAACACTAAG	0.413000													18	83					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176709482	176709482	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176709482A>C	ENST00000439151.2	+	19	5954	c.5909A>C	c.(5908-5910)gAg>gCg	p.E1970A	NSD1_ENST00000361032.4_Missense_Mutation_p.E1867A|NSD1_ENST00000347982.4_Missense_Mutation_p.E1701A|NSD1_ENST00000354179.4_Missense_Mutation_p.E1701A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1970	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTGTGAATGAGTATGTGGGT	0.343000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	123					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344017	248344017	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:248344017C>T	ENST00000359682.2	+	1	730	c.730C>T	c.(730-732)Cac>Tac	p.H244Y		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTTCCTCTCACCTCATGGT	0.483000													36	136					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951012	235951012	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:235951012G>T	ENST00000409212.1	+	4	2106	c.1599G>T	c.(1597-1599)agG>agT	p.R533S	SH3BP4_ENST00000344528.4_Missense_Mutation_p.R533S|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R533S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	533					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTTTGTCCAGGCCCCAGGATC	0.592000													30	73					1.7881e-09	2.21129e-09	1	1	0
NEGR1	257194	broad.mit.edu	37	1	72748143	72748143	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:72748143C>A	ENST00000357731.4	-	1	274	c.35G>T	c.(34-36)tGc>tTc	p.C12F	NEGR1_ENST00000434200.1_Missense_Mutation_p.C10F	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	12					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CTGGTTCGAGCAACAAGCACC	0.662000													14	47					2.62699e-14	3.5058e-14	1	1	0
GAK	2580	broad.mit.edu	37	4	887730	887730	+	Missense_Mutation	SNP	C	C	A	rs144664799		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:887730C>A	ENST00000314167.4	-	8	919	c.809G>T	c.(808-810)cGa>cTa	p.R270L	GAK_ENST00000511163.1_Missense_Mutation_p.R191L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	270	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATTGACTATTCGAAGTTTCGC	0.607000													11	32					6.40141e-05	6.94422e-05	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133801614	133801614	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:133801614G>T	ENST00000321016.8	-	9	1417	c.1187C>A	c.(1186-1188)aCc>aAc	p.T396N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T396N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	396	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AGGCACACAGGTATAAGTGCC	0.592000													11	18					3.07112e-06	3.48436e-06	1	1	0
ANK2	287	broad.mit.edu	37	4	114254292	114254292	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:114254292G>T	ENST00000357077.4	+	29	3360	c.3307G>T	c.(3307-3309)Gac>Tac	p.D1103Y	ANK2_ENST00000264366.6_Missense_Mutation_p.D1070Y|ANK2_ENST00000506722.1_Missense_Mutation_p.D1094Y|ANK2_ENST00000394537.3_Missense_Mutation_p.D1103Y|ANK2_ENST00000509550.1_Missense_Mutation_p.D279Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1070	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAGAATGGGGACAGCTGGAA	0.468000													27	64					4.59853e-10	5.72501e-10	1	1	0
RPLP0P6	220717	broad.mit.edu	37	2	38709170	38709170	+	RNA	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:38709170A>G	ENST00000417039.1	-	0	696																											CAAGAACACCATGATGCGCAA	0.557000													11	77					0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850791	3850791	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:3850791C>T	ENST00000380274.1	+	1	1172	c.746C>T	c.(745-747)aCc>aTc	p.T249I	FAM50B_ENST00000380272.3_Missense_Mutation_p.T249I			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	249						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CACTACCACACCTTCTACGAC	0.642000													10	57					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	429979	429979	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:429979C>T	ENST00000280886.6	-	16	1951	c.1864G>A	c.(1864-1866)Ggc>Agc	p.G622S	DIP2C_ENST00000381496.3_Missense_Mutation_p.G515S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	622			G -> S (in a colorectal cancer sample; somatic mutation).			nucleus	catalytic activity|transcription factor binding	p.G622S(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTTCGCGCCGTCCGCCACT	0.527000													18	43					0	0	1	0	0
PHOSPHO1	162466	broad.mit.edu	37	17	47302047	47302047	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:47302047G>A	ENST00000413580.1	-	3	857	c.440C>T	c.(439-441)tCc>tTc	p.S147F	PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.S122F|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.S147F	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	122					regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GTTGGCATCGGAGATGAGAAT	0.647000													3	8					0	0	1	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7883432	7883432	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:7883432C>G	ENST00000539054.1	-	10	1027	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	TXNDC5_ENST00000379757.4_Missense_Mutation_p.R415T|TXNDC5_ENST00000473453.1_Missense_Mutation_p.R307T|BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.R307T																							GTCAAGGTCTCTGCCTCCACT	0.502000													6	71					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69928280	69928280	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:69928280C>T	ENST00000394355.2	+	1	25	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	MITF_ENST00000352241.4_Intron|MITF_ENST00000328528.6_Intron|MITF_ENST00000314589.5_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron	NM_198177.2	NP_937820.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	0					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTGGTTTTCCCACAGCAGTTC	0.488000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						18	24					0	0	1	0	0
LSM4	25804	broad.mit.edu	37	19	18420673	18420673	+	Splice_Site	SNP	T	T	C	rs112426584		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:18420673T>C	ENST00000593829.1	-	4	398		c.e4-2		LSM4_ENST00000252816.5_Splice_Site	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						GTCCCCGTCCTGCGGAGAAGG	0.642000													6	25					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104831530	104831530	+	Splice_Site	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:104831530G>C	ENST00000369878.3	+	6	2291		c.e6-1		CNNM2_ENST00000457502.2_Splice_Site|CNNM2_ENST00000475511.1_Intron|CNNM2_ENST00000433628.2_Intron	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2						ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCATTTTTCAGTTCCTTTGTC	0.433000													31	86					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102453882	102453882	+	Silent	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:102453882A>T	ENST00000393772.2	-	19	2457	c.2031T>A	c.(2029-2031)ccT>ccA	p.P677P	FBXL13_ENST00000436908.1_Silent_p.P705P|FBXL13_ENST00000379306.3_Silent_p.P423P|FBXL13_ENST00000379305.3_Silent_p.P677P|FBXL13_ENST00000313221.4_Silent_p.P705P|FBXL13_ENST00000456695.1_Silent_p.P423P|FBXL13_ENST00000379308.3_Silent_p.P660P|FBXL13_ENST00000455112.2_Silent_p.P660P			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	705										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GCTCTGTAACAGGGTTTCCTT	0.433000													25	69					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142278180	142278180	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:142278180T>A	ENST00000350721.4	-	7	1766	c.1645A>T	c.(1645-1647)Agt>Tgt	p.S549C	ATR_ENST00000383101.3_Missense_Mutation_p.S485C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	549					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.S549G(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTAACAAACTTCTACAGCTC	0.353000								Other conserved DNA damage response genes					24	37					0	0	1	0	0
CD70	970	broad.mit.edu	37	19	6586078	6586078	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:6586078G>T	ENST00000245903.3	-	3	684	c.535C>A	c.(535-537)Cga>Aga	p.R179R	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	179					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						TCAGTGTTTCGGGAAGGCAAA	0.507000													5	26					0.014758	0.0151668	1	1	0
TCHH	7062	broad.mit.edu	37	1	152083180	152083180	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:152083180T>A	ENST00000368804.1	-	2	2512	c.2513A>T	c.(2512-2514)gAg>gTg	p.E838V		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	838					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGCTCCTCTTCCTC	0.677000													17	33					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672584	141672584	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:141672584G>A	ENST00000547270.1	-	1	989	c.906C>T	c.(904-906)gcC>gcT	p.A302A		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	302					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCCTCAACTTGGCATTGCCTG	0.532000													20	43					0	0	1	0	0
GSTK1	373156	broad.mit.edu	37	7	142962252	142962252	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:142962252G>A	ENST00000479303.1	+	4	509	c.451G>A	c.(451-453)Gtt>Att	p.V151I	GSTK1_ENST00000358406.5_Intron|GSTK1_ENST00000443571.2_Intron|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000409500.3_Intron	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	138						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CCCCAGGCACGTTTTCAGGGT	0.622000													8	24					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99019808	99019808	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:99019808A>C	ENST00000254898.5	+	10	1783	c.1552A>C	c.(1552-1554)Agc>Cgc	p.S518R	MATN2_ENST00000524308.1_Missense_Mutation_p.S477R|MATN2_ENST00000521689.1_Missense_Mutation_p.S518R|MATN2_ENST00000520016.1_Missense_Mutation_p.S518R|MATN2_ENST00000522025.2_Missense_Mutation_p.S234R	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	518	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGTGCTCCGCAGCGATGGGAA	0.562000													43	76					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155630373	155630373	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:155630373G>A	ENST00000368340.5	-	10	1790	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	YY1AP1_ENST00000359205.5_Missense_Mutation_p.P432L|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P412L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P443L|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P443L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P581L|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P423L|YY1AP1_ENST00000295566.4_Missense_Mutation_p.P489L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P289L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P443L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P412L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P432L	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CATTTTGCTCGGAGGGGCTTC	0.557000													31	79					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35969427	35969427	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:35969427C>A	ENST00000297866.5	+	5	902	c.836C>A	c.(835-837)cCc>cAc	p.P279H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	279										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCCCAGAGCCCATAAATTGG	0.403000													7	7					2.7689e-08	3.31374e-08	1	1	0
BRCA2	675	broad.mit.edu	37	13	32910544	32910544	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:32910544G>A	ENST00000544455.1	+	11	2279	c.2052G>A	c.(2050-2052)caG>caA	p.Q684Q	BRCA2_ENST00000380152.3_Silent_p.Q684Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	684	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAATCTCTCAGGATCTTGATT	0.353000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	16					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169157461	169157461	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:169157461C>A	ENST00000393743.3	-	33	4766	c.4475G>T	c.(4474-4476)gGa>gTa	p.G1492V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1492							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATATCTTCTTCCAAAGAGATG	0.313000													6	22					0.00198382	0.00210285	1	1	0
SRSF5	6430	broad.mit.edu	37	14	70238159	70238159	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:70238159C>T	ENST00000553521.1	+	9	2253	c.800C>T	c.(799-801)tCa>tTa	p.S267L	SRSF5_ENST00000553635.1_Missense_Mutation_p.S264L|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Missense_Mutation_p.S267L|SRSF5_ENST00000557154.1_Missense_Mutation_p.S267L			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	267	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						AGGTCCAGATCAGTTGACAGT	0.448000													75	186					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372683	175372683	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:175372683C>T	ENST00000367674.1	-	4	1277	c.569G>A	c.(568-570)tGc>tAc	p.C190Y	TNR_ENST00000263525.2_Missense_Mutation_p.C190Y	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	190	Cys-rich.|EGF-like 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCTTCGTTGCAGATGCAGCC	0.567000													18	127					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21108395	21108395	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:21108395C>T	ENST00000377122.4	-	20	2409	c.2013G>A	c.(2011-2013)ccG>ccA	p.P671P	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	671					regulation of actin filament length		actin binding|structural constituent of muscle	p.P671P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTCTATCTCCGGGGTCATGC	0.413000													88	141					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6305591	6305591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:6305591G>T	ENST00000264870.3	-	3	577	c.312C>A	c.(310-312)taC>taA	p.Y104*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	104					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACCAATGACGTATTCCACCC	0.488000													7	42					0.00307968	0.00324591	1	1	0
NSD1	64324	broad.mit.edu	37	5	176719160	176719160	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176719160G>A	ENST00000439151.2	+	22	6508		c.e22+1		NSD1_ENST00000361032.4_Splice_Site|NSD1_ENST00000347982.4_Splice_Site|NSD1_ENST00000354179.4_Splice_Site	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGACCAGCAGGTTGGTGCCAA	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	32					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007777	193007777	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:193007777G>A	ENST00000342358.4	-	26	3037	c.2920C>T	c.(2920-2922)Ctg>Ttg	p.L974L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	974					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTGAAAGCAGTAAAGGGGGA	0.418000													38	36					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110791	55110791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55110791G>T	ENST00000314721.2	+	1	165	c.115G>T	c.(115-117)Gga>Tga	p.G39*		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G39R(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GACAATGGTGGGAAACCTCCT	0.418000													28	61					7.26314e-15	9.79864e-15	1	1	0
FTO	79068	broad.mit.edu	37	16	53967915	53967915	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:53967915G>A	ENST00000471389.1	+	8	1480	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	FTO_ENST00000394647.3_Missense_Mutation_p.E124K|FTO_ENST00000460382.1_Missense_Mutation_p.E21K|FTO_ENST00000463855.1_Missense_Mutation_p.E42K|FTO_ENST00000431610.2_Missense_Mutation_p.E21K	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	420					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGTGCTTCATGAAGTTAAAAG	0.408000													9	36					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189874	58189874	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:58189874G>T	ENST00000302581.2	-	1	912	c.861C>A	c.(859-861)gtC>gtA	p.V287V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAGGCTGTAGACCACAGGGT	0.423000													18	50					2.4624e-09	3.025e-09	1	1	0
BMPR1B	658	broad.mit.edu	37	4	96036835	96036835	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:96036835G>T	ENST00000515059.1	+	6	529		c.e6-1		BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTCGATTATAGGACACTCCCA	0.338000													15	42					1.15088e-07	1.35979e-07	1	1	0
STON2	85439	broad.mit.edu	37	14	81837512	81837512	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:81837512G>A	ENST00000555447.1	-	5	803	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	STON2_ENST00000267540.2_Missense_Mutation_p.P131S	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	131					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTCCAGCAGGGCATGGTCAAT	0.463000													8	104					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683440	6683440	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:6683440T>C	ENST00000321535.4	+	2	383	c.253T>C	c.(253-255)Ttt>Ctt	p.F85L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	85										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TGTTAAGAAGTTTGGTCGTTA	0.498000													42	95					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92459807	92459807	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:92459807C>A	ENST00000370389.2	+	15	2988	c.2064C>A	c.(2062-2064)ccC>ccA	p.P688P	BRDT_ENST00000362005.3_Silent_p.P761P|BRDT_ENST00000394530.3_Silent_p.P715P|BRDT_ENST00000399546.2_Silent_p.P761P|BRDT_ENST00000402388.1_Silent_p.P761P	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTGCCTCCCTCAGGTAAGA	0.294000													5	27					0.000602214	0.000643866	1	1	0
AC226119.5	0	broad.mit.edu	37	4	3948570	3948570	+	RNA	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:3948570G>T	ENST00000281228.8	-	0	815				FAM86EP_ENST00000313946.8_RNA																							GGAGCCCGCTGGTGCTCCCGG	0.622000													5	79					8.12818e-05	8.79171e-05	1	1	0
LYPD6	130574	broad.mit.edu	37	2	150305596	150305596	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:150305596C>A	ENST00000334166.4	+	3	409	c.152C>A	c.(151-153)aCc>aAc	p.T51N	LYPD6_ENST00000409381.1_Missense_Mutation_p.T51N	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	51	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		AAATGTTTCACCTGTGAAAAG	0.433000													4	20					0.00909568	0.00947892	1	1	0
LTBP4	8425	broad.mit.edu	37	19	41131858	41131858	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:41131858G>C	ENST00000308370.7	+	31	4127	c.4127G>C	c.(4126-4128)tGc>tCc	p.C1376S	LTBP4_ENST00000545697.1_Missense_Mutation_p.C744S|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1339S|LTBP4_ENST00000396819.3_Missense_Mutation_p.C1309S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1377	TB 4.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTGCTGCTGCCTGTATGGA	0.642000													6	16					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165792724	165792724	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:165792724C>T	ENST00000366882.1	-	19	2068	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	PDE10A_ENST00000539869.2_Missense_Mutation_p.M648I|PDE10A_ENST00000354448.4_Missense_Mutation_p.M638I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	638					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CGGTCTGGTACATCTCTTCCA	0.383000													9	59					0	0	1	0	0
EDA2R	60401	broad.mit.edu	37	X	65819587	65819587	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:65819587G>T	ENST00000374719.3	-	6	689	c.633C>A	c.(631-633)acC>acA	p.T211T	EDA2R_ENST00000450752.1_Silent_p.T232T|EDA2R_ENST00000456230.2_Silent_p.T211T|EDA2R_ENST00000253392.5_Silent_p.T232T|EDA2R_ENST00000396050.1_Silent_p.T211T|EDA2R_ENST00000451436.2_Silent_p.T87T	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	211					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TAAGTGGCTGGGTCTGAAAGA	0.547000													10	1					0.0581538	0.0595996	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436359	248436359	+	Missense_Mutation	SNP	G	G	T	rs113574656	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:248436359G>T	ENST00000318021.2	-	1	779	c.758C>A	c.(757-759)gCc>gAc	p.A253D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A253V(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GGTAAAAATGGCAGCTCCATA	0.498000													15	64					2.35188e-11	2.99845e-11	1	1	0
NMUR1	10316	broad.mit.edu	37	2	232392963	232392963	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:232392963G>C	ENST00000305141.4	-	2	902	c.769C>G	c.(769-771)Cga>Gga	p.R257G		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	257					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGCCGCAGTCGCAGCCCAATG	0.642000													11	17					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149891	153149891	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:153149891G>A	ENST00000285900.5	+	13	2529	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	GRIA1_ENST00000340592.5_Missense_Mutation_p.R729Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R660Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R649Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R739Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R739Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	729					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTGAGCAGCGGAAACCCTGT	0.507000													19	48					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898192	104898192	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:104898192G>T	ENST00000507740.1	+	2	1025	c.789G>T	c.(787-789)cgG>cgT	p.R263R	RIMS2_ENST00000436393.2_Silent_p.R233R|RIMS2_ENST00000262231.10_Silent_p.R263R|RIMS2_ENST00000406091.3_Silent_p.R455R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	486					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACTCACTACGGAAACAGCACC	0.453000										HNSCC(12;0.0054)			18	90					5.03518e-11	6.37561e-11	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8633439	8633439	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:8633439C>A	ENST00000381196.4	-	11	773	c.230G>T	c.(229-231)gGg>gTg	p.G77V	PTPRD_ENST00000486161.1_Missense_Mutation_p.G77V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G77V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G77V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G77V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G77V|PTPRD_ENST00000463477.1_Missense_Mutation_p.G77V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G77V|PTPRD_ENST00000537002.1_Missense_Mutation_p.G77V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G77V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G77V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G77V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	77	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATCCAGACCCATCGTCAAA	0.428000										TSP Lung(15;0.13)			8	44					5.18039e-06	5.82402e-06	1	1	0
RIF1	55183	broad.mit.edu	37	2	152276866	152276866	+	Silent	SNP	A	A	G	rs148830532		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:152276866A>G	ENST00000243326.4	+	6	1149	c.666A>G	c.(664-666)gcA>gcG	p.A222A	RIF1_ENST00000444746.2_Silent_p.A222A|RIF1_ENST00000430328.2_Silent_p.A222A|RIF1_ENST00000428287.2_Silent_p.A222A|RIF1_ENST00000433166.2_Silent_p.A222A|RIF1_ENST00000453091.2_Silent_p.A222A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	222					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGAAATAGCATCTATTACGG	0.408000													7	30					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52344058	52344058	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:52344058C>G	ENST00000354831.7	-	1	419	c.230G>C	c.(229-231)cGg>cCg	p.R77P	NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.R77P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	77					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACGGGCAACCCGGCTGTTCTC	0.602000													12	38					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43015732	43015732	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:43015732G>T	ENST00000161559.6	-	7	1559	c.1425C>A	c.(1423-1425)aaC>aaA	p.N475K	CEACAM1_ENST00000403444.3_Intron|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000599389.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000488639.2_5'UTR|CEACAM1_ENST00000358394.3_Missense_Mutation_p.N410K|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000352591.5_Missense_Mutation_p.N379K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.N201K|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	475					angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACTTACTGTGGTTGGAGACTG	0.507000													9	41					0.335167	0.3379	1	1	0
C20orf197	284756	broad.mit.edu	37	20	58645071	58645071	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:58645071C>A	ENST00000313426.1	+	3	348	c.42C>A	c.(40-42)gaC>gaA	p.D14E		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	14										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			GGCAGGCAGACGGCTACGGGC	0.562000													28	58					1.06801e-11	1.37105e-11	1	1	0
NPY	4852	broad.mit.edu	37	7	24324980	24324980	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:24324980C>A	ENST00000407573.1	+	3	411	c.121C>A	c.(121-123)Cca>Aca	p.P41T	NPY_ENST00000242152.2_Missense_Mutation_p.P41T|NPY_ENST00000405982.1_Missense_Mutation_p.P41T			P01303	NPY_HUMAN	neuropeptide Y	41					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGAGGACGCACCAGCGGAGGA	0.687000													13	34					3.27435e-08	3.90606e-08	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91787538	91787538	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:91787538C>T	ENST00000389857.6	-	13	1539	c.1453G>A	c.(1453-1455)Gcg>Acg	p.A485T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	485					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACCAGGGACGCGTCCCGCAGC	0.612000													5	14					0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55647509	55647509	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:55647509G>A	ENST00000164305.5	+	12	1835	c.1544G>A	c.(1543-1545)aGc>aAc	p.S515N	CCPG1_ENST00000442196.3_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.S320N|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	515					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTAATTTCAAGCAATTATAAA	0.343000													11	29					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210265	100210265	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:100210265C>T	ENST00000317233.4	-	14	2093	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	AFF3_ENST00000409579.1_Missense_Mutation_p.V645I|AFF3_ENST00000356421.2_Missense_Mutation_p.V645I|AFF3_ENST00000409236.1_Missense_Mutation_p.V620I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	620					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCCGGGGGGACCACCACGCTC	0.741000													7	54					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67188853	67188853	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:67188853G>A	ENST00000345057.4	-	5	1106	c.638C>T	c.(637-639)cCg>cTg	p.P213L	TRADD_ENST00000486556.1_Missense_Mutation_p.P153L	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	213	Death.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGGCTCAGCGGCCGATTCAC	0.711000													3	18					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50135408	50135408	+	RNA	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:50135408C>G	ENST00000376025.2	-	0	1694							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACCACAAACCAGAATGCGAA	0.453000													26	27					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94488898	94488898	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:94488898G>T	ENST00000375708.3	-	8	1509	c.1311C>A	c.(1309-1311)tcC>tcA	p.S437S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.S297S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	437					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGCGGTGTGGACGCAGATG	0.527000													45	42					1.03325e-14	1.38889e-14	1	1	0
UIMC1	51720	broad.mit.edu	37	5	176370346	176370346	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:176370346C>T	ENST00000377219.2	-	10	1753	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Silent_p.E363E|UIMC1_ENST00000511320.1_Silent_p.E529E|UIMC1_ENST00000377227.4_Silent_p.E529E	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	529	Zinc-finger-like region.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTATCTTCCTCCATCAGAC	0.438000													61	166					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112676270	112676270	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:112676270C>T	ENST00000408903.3	-	3	988	c.573G>A	c.(571-573)caG>caA	p.Q191Q	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGTGCGGGGACTGTGTGAGCA	0.527000													12	33					0	0	1	0	0
MIR297	100126354	broad.mit.edu	37	4	111781783	111781783	+	RNA	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:111781783G>A	ENST00000401142.1	-	0	20					NR_030643.1																						acacatacatgcacatgcaca	0.323000													13	32					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109701312	109701312	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:109701312C>A	ENST00000277225.5	+	7	6640	c.6351C>A	c.(6349-6351)atC>atA	p.I2117I	ZNF462_ENST00000441147.2_Silent_p.I1023I|ZNF462_ENST00000542028.1_Silent_p.I74I|ZNF462_ENST00000457913.1_Silent_p.I2177I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2117					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGCCACGGATCGTCAGTCTCC	0.547000													150	263					1.23367e-73	1.7809e-73	1	1	0
TNR	7143	broad.mit.edu	37	1	175365789	175365789	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:175365789C>G	ENST00000367674.1	-	5	1839	c.1131G>C	c.(1129-1131)tgG>tgC	p.W377C	TNR_ENST00000263525.2_Missense_Mutation_p.W377C	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	377	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGACACCACTCCAATCTCCAG	0.597000													14	51					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185277	56185277	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56185277C>A	ENST00000312253.1	-	1	431	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAACTGCCACCAGTTGAATGC	0.453000													15	85					1.49906e-05	1.66015e-05	1	1	0
EYS	346007	broad.mit.edu	37	6	66115185	66115185	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:66115185C>A	ENST00000503581.1	-	6	1475	c.938G>T	c.(937-939)aGt>aTt	p.S313I	EYS_ENST00000370616.2_Missense_Mutation_p.S313I|EYS_ENST00000370618.3_Missense_Mutation_p.S313I|EYS_ENST00000393380.2_Missense_Mutation_p.S313I|EYS_ENST00000370621.3_Missense_Mutation_p.S313I|EYS_ENST00000342421.5_Missense_Mutation_p.S313I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	313					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATAAGCAGAACTGCTATTTGG	0.383000													25	122					7.26314e-15	9.79864e-15	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23526527	23526527	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:23526527C>A	ENST00000296682.3	+	11	1512	c.1330C>A	c.(1330-1332)Cca>Aca	p.P444T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	444					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATATCCAGATCCACACAGCCG	0.473000										HNSCC(3;0.000094)			14	53					0.00244969	0.00258928	1	1	0
NRSN1	140767	broad.mit.edu	37	6	24145808	24145808	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:24145808C>A	ENST00000378491.4	+	4	523	c.222C>A	c.(220-222)atC>atA	p.I74I		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	74					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.L75I(1)|p.I74I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTTTTGTGATCCTCGGATTGA	0.512000													17	67					5.35267e-07	6.26448e-07	1	1	0
WDR72	256764	broad.mit.edu	37	15	53889435	53889435	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:53889435C>A	ENST00000396328.1	-	18	3228	c.2989G>T	c.(2989-2991)Gtt>Ttt	p.V997F	WDR72_ENST00000360509.5_Missense_Mutation_p.V997F|WDR72_ENST00000557913.1_Missense_Mutation_p.V994F|WDR72_ENST00000559418.1_Missense_Mutation_p.V1007F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	997										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTTGTTGAACTTCCGCCAAG	0.383000													44	79					1.76056e-25	2.53165e-25	1	1	0
LRP2	4036	broad.mit.edu	37	2	170070338	170070338	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:170070338C>A	ENST00000263816.3	-	36	6154	c.5869G>T	c.(5869-5871)Gta>Tta	p.V1957L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1957					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCTGGTGTACCAGGATCATT	0.383000													11	43					4.68919e-08	5.57593e-08	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70384131	70384131	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chrX:70384131T>C	ENST00000374051.3	+	5	1128	c.806T>C	c.(805-807)aTt>aCt	p.I269T	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.I289T|NLGN3_ENST00000536169.1_Missense_Mutation_p.I249T	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	289					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGCTCGGGCATTGGTGCATCC	0.592000													12	15					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113276288	113276288	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:113276288T>C	ENST00000401783.2	-	4	1399	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_ENST00000374461.1_Missense_Mutation_p.T332A|SVEP1_ENST00000302728.8_Missense_Mutation_p.T355A|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T332A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	355					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGGGGATGTGCTTCCAGGT	0.507000													12	14					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74621485	74621485	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:74621485C>G	ENST00000354431.4	-	4	830	c.639G>C	c.(637-639)ctG>ctC	p.L213L	LRRIQ3_ENST00000370909.2_Silent_p.L105L|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Silent_p.L213L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	213										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AATTATGAGCCAGAATTGCAT	0.244000													4	34					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019812	56019812	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56019812G>T	ENST00000303059.3	+	1	137	c.137G>T	c.(136-138)gGc>gTc	p.G46V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATATTGACAGGCTTCACAGAT	0.373000													4	49					0.000602214	0.000643866	1	1	0
TMOD3	29766	broad.mit.edu	37	15	52188669	52188669	+	Silent	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:52188669A>T	ENST00000308580.7	+	7	962	c.681A>T	c.(679-681)acA>acT	p.T227T	TMOD3_ENST00000544199.1_Silent_p.T227T|RP11-56B16.5_ENST00000558142.1_RNA	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	227						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAACCAACACACATGTGAAAT	0.373000													14	89					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951209	235951209	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:235951209C>A	ENST00000409212.1	+	4	2303	c.1796C>A	c.(1795-1797)gCc>gAc	p.A599D	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A599D|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A599D			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	599					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GACCAGGAGGCCATCCTCACC	0.582000													15	65					2.23348e-06	2.54961e-06	1	1	0
MAGI1	9223	broad.mit.edu	37	3	65342361	65342361	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:65342361G>A	ENST00000402939.2	-	23	4080	c.4081C>T	c.(4081-4083)Cgc>Tgc	p.R1361C	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1390					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.R1361S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTCTCCTGCGGGTGGGTGAC	0.697000													16	39					0	0	1	0	0
C4orf29	80167	broad.mit.edu	37	4	128938657	128938657	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:128938657G>A	ENST00000388795.5	+	8	766		c.e8+1		C4orf29_ENST00000398965.1_Splice_Site|C4orf29_ENST00000444616.1_Splice_Site			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29							extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGGAGGACACGTAAGCCTTTT	0.378000													4	11					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263782	140263782	+	Silent	SNP	G	G	C	rs146010500		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:140263782G>C	ENST00000289272.2	+	1	1929	c.1929G>C	c.(1927-1929)ccG>ccC	p.P643P	PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.P643P|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGCGCCGCACCACCGCC	0.701000													32	86					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111913	197111913	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:197111913C>A	ENST00000367409.4	-	3	1725	c.1469G>T	c.(1468-1470)cGt>cTt	p.R490L	ASPM_ENST00000294732.7_Missense_Mutation_p.R490L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	490					mitosis	cytoplasm|nucleus	calmodulin binding	p.R490H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTATTGGACGTCTCTTAGG	0.338000													12	75					7.03913e-09	8.53437e-09	1	1	0
HIST1H1B	3009	broad.mit.edu	37	6	27835199	27835199	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:27835199T>G	ENST00000331442.3	-	1	160	c.109A>C	c.(109-111)Aaa>Caa	p.K37Q		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	37					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCCGTCGCTTTGCGCTTAGCA	0.617000													26	76					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51917886	51917886	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:51917886T>A	ENST00000371117.3	-	21	2403	c.2128A>T	c.(2128-2130)Aca>Tca	p.T710S	PKHD1_ENST00000340994.4_Missense_Mutation_p.T710S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	710					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTACGTTTGTGTCTGCAATA	0.478000													7	24					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44061064	44061064	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:44061064C>G	ENST00000344290.5	+	6	1216	c.894C>G	c.(892-894)ccC>ccG	p.P298P	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.P298P|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.P298P|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Silent_p.P298P|MAPT_ENST00000570299.1_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	298					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				AGGATGCCCCCCTGGAGTTCA	0.617000													10	64					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533822	55533822	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:55533822A>G	ENST00000220676.1	+	2	444	c.296A>G	c.(295-297)gAg>gGg	p.E99G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	99	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGAGCTGGAGGACGGCGAG	0.657000													25	135					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76082941	76082941	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:76082941G>A	ENST00000335749.4	+	13	4129	c.3560G>A	c.(3559-3561)cGc>cAc	p.R1187H	TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1190H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1187H|TNRC6C_ENST00000588061.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1190H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1187H	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1190					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGTTGCGCGCACAATCACT	0.592000													15	154					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433060	55433060	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55433060T>A	ENST00000314259.3	+	1	447	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACGGGTGTGCTGCCTAATGGT	0.507000													11	83					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684485	33684485	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:33684485C>G	ENST00000346562.2	+	2	222	c.148C>G	c.(148-150)Ctt>Gtt	p.L50V	NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.L50V|NPAS3_ENST00000341321.4_Missense_Mutation_p.L80V|NPAS3_ENST00000356141.4_Missense_Mutation_p.L80V|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000548645.1_Missense_Mutation_p.L50V|NPAS3_ENST00000551492.1_Missense_Mutation_p.L87V	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTTGTTGCCTCTTCCTGCAGC	0.488000													34	87					0	0	1	0	0
LOC728323	728323	broad.mit.edu	37	2	243056831	243056831	+	RNA	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:243056831A>G	ENST00000456398.1	+	0	352																											AATAATGAAGAGCATGAATAT	0.264000													11	23					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15866440	15866440	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:15866440A>C	ENST00000217246.4	+	10	1154	c.759A>C	c.(757-759)gaA>gaC	p.E253D	MACROD2_ENST00000310348.4_Missense_Mutation_p.E253D|MACROD2_ENST00000378058.3_Missense_Mutation_p.E18D|MACROD2_ENST00000402914.1_Missense_Mutation_p.E18D	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	253	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGGATGTTGAAATGAAAGAAG	0.299000													22	91					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493823	55493823	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55493823C>A	ENST00000543010.1	+	6	900	c.757C>A	c.(757-759)Ctg>Atg	p.L253M	NLRP2_ENST00000538819.1_Missense_Mutation_p.L229M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L250M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L253M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L230M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L231M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L231M|NLRP2_ENST00000391721.4_Missense_Mutation_p.L229M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	253	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTCAGCCGCCTGGGCCCGTG	0.532000													16	43					1.3612e-06	1.56834e-06	1	1	0
UGT2A3	79799	broad.mit.edu	37	4	69795751	69795751	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:69795751A>C	ENST00000251566.4	-	6	1394	c.1364T>G	c.(1363-1365)cTa>cGa	p.L455R	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L166R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	455						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTCGATCTAGGGGCTTTAC	0.453000													18	89					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906309	42906309	+	Silent	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:42906309C>G	ENST00000422265.1	+	3	490	c.315C>G	c.(313-315)tcC>tcG	p.S105S	ACKR2_ENST00000273145.2_Silent_p.S105S|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.S105S	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		GGGGCATCTCCGTGGCCTGGC	0.493000													38	79					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918236	39918236	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:39918236C>A	ENST00000337304.2	+	2	1567	c.685C>A	c.(685-687)Ctg>Atg	p.L229M	ATF4_ENST00000396680.1_Missense_Mutation_p.L229M|ATF4_ENST00000404241.2_Missense_Mutation_p.L229M	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	229					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AGAGTCCTATCTGGGGTCTCC	0.537000													3	16					0.014758	0.0151668	1	1	0
CNTN6	27255	broad.mit.edu	37	3	1425006	1425006	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:1425006C>G	ENST00000446702.2	+	19	3058	c.2431C>G	c.(2431-2433)Ctc>Gtc	p.L811V	CNTN6_ENST00000350110.2_Missense_Mutation_p.L811V|CNTN6_ENST00000539053.1_Missense_Mutation_p.L739V			Q9UQ52	CNTN6_HUMAN	contactin 6	811	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGAACTTCTCTCCAGAGTTT	0.433000													66	98					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73181646	73181646	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:73181646G>T	ENST00000286657.4	-	11	1564	c.1528C>A	c.(1528-1530)Cct>Act	p.P510T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	510	Disintegrin.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGATTATCAGGATGGCTACAC	0.398000													12	35					7.03913e-09	8.53437e-09	1	1	0
ZBTB8A	653121	broad.mit.edu	37	1	33059310	33059310	+	Missense_Mutation	SNP	T	T	A	rs148974909		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:33059310T>A	ENST00000373510.4	+	3	1007	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.Y260N|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCCTGTTGGCTATCAGTACGG	0.438000													12	31					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70164458	70164458	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:70164458T>A	ENST00000388768.2	-	2	579	c.253A>T	c.(253-255)Atg>Ttg	p.M85L	RUFY2_ENST00000602465.1_Missense_Mutation_p.M50L|RUFY2_ENST00000342616.4_Missense_Mutation_p.M50L|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.M50L	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	99						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CAATGTTCCATAACAACAAAG	0.388000													14	47					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39156169	39156169	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:39156169G>T	ENST00000301819.6	+	6	829	c.652G>T	c.(652-654)Gtc>Ttc	p.V218F	TTC21A_ENST00000440121.1_Missense_Mutation_p.V177F|TTC21A_ENST00000431162.2_Missense_Mutation_p.V218F	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	218							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCAGCCCTCGTCCTGAAGAT	0.547000													7	101					0.00198382	0.00210285	1	1	0
RPL39L	116832	broad.mit.edu	37	3	186839064	186839064	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:186839064T>A	ENST00000296277.4	-	3	427	c.25A>T	c.(25-27)Att>Ttt	p.I9F	RPL39L_ENST00000455270.1_Missense_Mutation_p.I9F|RPL39L_ENST00000433055.1_Missense_Mutation_p.I9F	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	9					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		AATCGCTTAATGGTGAAAGTC	0.453000													31	146					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227983388	227983388	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:227983388T>C	ENST00000396625.3	-	7	669	c.462A>G	c.(460-462)agA>agG	p.R154R	COL4A4_ENST00000329662.7_Silent_p.R154R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	154	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAAGAGCTCCTCTTCCTCCTG	0.552000													19	69					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676123	11676123	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:11676123C>G	ENST00000423059.3	-	2	907	c.656G>C	c.(655-657)cGt>cCt	p.R219P		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	219	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CACCACATGACGCGTCCGGTG	0.617000										HNSCC(18;0.044)			9	34					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681847	55681847	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55681847A>C	ENST00000344514.1	-	1	211	c.212T>G	c.(211-213)cTc>cGc	p.L71R		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAATAGCAGAGATCACAGAA	0.408000													22	38					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105845800	105845800	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:105845800T>C	ENST00000369110.3	-	2	240	c.48A>G	c.(46-48)gtA>gtG	p.V16V		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	16				V -> I (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GATAATCCTGTACCTGTAAAA	0.348000													5	47					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215822045	215822045	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:215822045T>C	ENST00000366943.2	-	66	14793	c.14407A>G	c.(14407-14409)Att>Gtt	p.I4803V	USH2A_ENST00000307340.3_Missense_Mutation_p.I4803V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4803	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTACTCCAATAGAGTAGTTA	0.542000										HNSCC(13;0.011)			8	48					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177632758	177632758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:177632758G>T	ENST00000280193.2	-	4	1014	c.599C>A	c.(598-600)aCa>aAa	p.T200K	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	200					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AAAACTGATTGTTACTGGTTT	0.388000													26	83					1.17739e-12	1.54351e-12	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15655689	15655689	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:15655689T>A	ENST00000378076.3	-	15	1876	c.1523A>T	c.(1522-1524)cAg>cTg	p.Q508L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	508					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCTGGAACCTGGCAAGTTTT	0.458000													41	173					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12337019	12337019	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:12337019C>A	ENST00000261349.4	-	5	947	c.871G>T	c.(871-873)Ggg>Tgg	p.G291W	LRP6_ENST00000543091.1_Missense_Mutation_p.G291W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	291	EGF-like 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAACAACCCCCATTGTCAATT	0.393000													18	42					2.4624e-09	3.025e-09	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113349855	113349855	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113349855C>T	ENST00000297405.5	-	43	7002	c.6758G>A	c.(6757-6759)gGa>gAa	p.G2253E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2213E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2183E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2149E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2253	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAATGTGTATCCTGGGAAACA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	81					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24199226	24199226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:24199226G>C	ENST00000265769.4	+	16	1896	c.1786G>C	c.(1786-1788)Gaa>Caa	p.E596Q	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E343Q|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	596	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CACAAGTCAAGAAATAGGCAT	0.408000													27	102					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42353199	42353199	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:42353199C>A	ENST00000269945.3	+	6	681	c.628_splice	c.e6-1	p.G210_splice	DMRTC2_ENST00000596827.1_Splice_Site_p.G210_splice	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	210	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TCTTATTAGGCTTTGACCCTG	0.532000													36	113					7.53189e-24	1.06248e-23	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477163	110477163	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:110477163G>A	ENST00000378402.5	+	49	8206	c.8102G>A	c.(8101-8103)gGa>gAa	p.G2701E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2701					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAACCAATGGAGCGGTGATT	0.453000										HNSCC(38;0.096)			52	96					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158139994	158139994	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:158139994T>C	ENST00000313708.6	-	13	1635	c.1353A>G	c.(1351-1353)tcA>tcG	p.S451S	EBF1_ENST00000380654.4_Silent_p.S420S|EBF1_ENST00000517373.1_Silent_p.S443S|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	451					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGCTTGTGATGCCTCGG	0.502000			T	HMGA2	lipoma								20	70					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523066	43523066	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:43523066T>C	ENST00000401740.1	-	3	668	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	PSG11_ENST00000320078.7_Missense_Mutation_p.M189V|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.M67V|PSG11_ENST00000403486.1_Missense_Mutation_p.M67V			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	189	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTATGAGTCATAGGGAGGCTC	0.483000													140	370					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:4936857C>T	ENST00000322013.3	-	1	65	c.37G>A	c.(37-39)Gtt>Att	p.V13I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGCAGAAACGCTGCTGCTG	0.557000													49	44					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72975701	72975701	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:72975701A>T	ENST00000262209.4	-	5	865	c.658T>A	c.(658-660)Ttt>Att	p.F220I		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	220						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AACTCACCAAACCTTAGTATT	0.323000													6	41					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063090	55063090	+	RNA	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:55063090T>A	ENST00000526016.1	-	0	547					NR_038174.2																						CAAATGTTGTTGTTTTTCTTC	0.403000													8	44					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242072400	242072400	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:242072400C>A	ENST00000403638.3	-	9	1443	c.1352G>T	c.(1351-1353)cGa>cTa	p.R451L	PASK_ENST00000358649.4_Missense_Mutation_p.R451L|PASK_ENST00000539818.1_Missense_Mutation_p.R235L|PASK_ENST00000234040.4_Missense_Mutation_p.R451L|PASK_ENST00000405260.1_Missense_Mutation_p.R451L|PASK_ENST00000544142.1_Missense_Mutation_p.R265L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	451					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.R451L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GATCTCATCTCGGGGCACAAC	0.537000													22	71					5.26018e-13	6.92031e-13	1	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106680815	106680815	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:106680815G>T	ENST00000526355.1	-	5	2064	c.1596C>A	c.(1594-1596)gcC>gcA	p.A532A	GUCY1A2_ENST00000347596.2_Silent_p.A553A|GUCY1A2_ENST00000282249.2_Silent_p.A532A	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	532	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GGGCACATATGGCTGTGAAGC	0.443000													8	49					5.18039e-06	5.82402e-06	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216002	20216002	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:20216002C>A	ENST00000331723.1	+	1	416	c.416C>A	c.(415-417)cCc>cAc	p.P139H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTCATGAACCCCCAGCTATGC	0.502000													10	61					5.50884e-06	6.15596e-06	1	1	0
BAIAP2L1	55971	broad.mit.edu	37	7	97941556	97941556	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:97941556G>T	ENST00000005260.8	-	8	875	c.660C>A	c.(658-660)tcC>tcA	p.S220S	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	220	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGCAGCTTGGAATTCAGTA	0.448000													41	155					9.84934e-19	1.34838e-18	1	1	0
OR8J1	219477	broad.mit.edu	37	11	56127818	56127818	+	Silent	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56127818G>C	ENST00000303039.3	+	1	128	c.96G>C	c.(94-96)ctG>ctC	p.L32L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGTCTTTCTGGTGCTCTATG	0.502000													11	82					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377279	44377279	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:44377279C>T	ENST00000587539.1	-	3	1086	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	ZNF404_ENST00000324394.6_Missense_Mutation_p.A361T	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CTACAAAAGGCCTTTCCACAA	0.393000													6	36					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222832074	222832074	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:222832074C>A	ENST00000344922.5	+	19	4643	c.4618C>A	c.(4618-4620)Caa>Aaa	p.Q1540K	MIA3_ENST00000340535.7_Missense_Mutation_p.Q418K|MIA3_ENST00000344441.6_Missense_Mutation_p.Q1540K|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1540					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAACTGAGTCAAGAAGAGTA	0.408000													34	185					4.0492e-12	5.25263e-12	1	1	0
OR5M11	219487	broad.mit.edu	37	11	56310049	56310049	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:56310049A>C	ENST00000528616.2	-	1	708	c.685T>G	c.(685-687)Tca>Gca	p.S229A		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CCCTCTGCTGATTTGATCCGG	0.502000													10	41					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925051	54925051	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:54925051G>A	ENST00000293373.6	+	23	2593	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	NCKAP1L_ENST00000545638.2_Silent_p.R788R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAGAGATGCGGGCCTTGGCAG	0.473000													32	95					0	0	1	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001279	13001279	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:13001279A>T	ENST00000376189.1	-	3	503	c.404T>A	c.(403-405)gTg>gAg	p.V135E	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.V135E|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	135										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		ACAGTCCTGCACTGGTGTTTT	0.507000													45	386					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679084	37679084	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:37679084A>G	ENST00000379800.3	-	1	719	c.310T>C	c.(310-312)Tgt>Cgt	p.C104R		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	104	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CTTCTTGAACAGAAATTAAAG	0.443000													21	31					0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704350	69704350	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr14:69704350A>T	ENST00000409014.1	+	10	1633	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	EXD2_ENST00000409949.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409675.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409242.1_Missense_Mutation_p.N326Y|EXD2_ENST00000409018.3_Missense_Mutation_p.N451Y|EXD2_ENST00000312994.5_Missense_Mutation_p.N451Y|EXD2_ENST00000449989.1_Missense_Mutation_p.N326Y|EXD2_ENST00000492815.1_3'UTR	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	326					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GAAGGACCACAACTCCCACGA	0.547000													16	37					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1706279	1706279	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:1706279C>T	ENST00000397412.3	+	10	1620	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	CRAMP1L_ENST00000436138.3_Silent_p.D504D|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000293925.5_Silent_p.D507D			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	507						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCAGCCCGGACGCTCCTGACA	0.701000													7	19					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835392	80835392	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:80835392C>A	ENST00000466387.1	+	21	3103	c.2379C>A	c.(2377-2379)agC>agA	p.S793R	CTNNA2_ENST00000541047.1_Missense_Mutation_p.S793R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S793R|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S827R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S472R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S793R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	793					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATATCTGCAGCAAGGTGAAGG	0.443000													9	52					1.12685e-05	1.25168e-05	1	1	0
ZNF667	63934	broad.mit.edu	37	19	56973797	56973797	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:56973797G>T	ENST00000342634.3	-	3	221	c.220_splice	c.e3-1	p.A74_splice	ZNF667_ENST00000504904.3_5'UTR|ZNF667_ENST00000292069.6_5'UTR|ZNF667_ENST00000591790.1_5'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGTAAGGCAGGGCTGTGGGGA	0.557000													16	62					9.16793e-09	1.10792e-08	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181479697	181479697	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:181479697G>A	ENST00000526775.1	+	2	516	c.351G>A	c.(349-351)aaG>aaA	p.K117K	CACNA1E_ENST00000360108.3_Silent_p.K117K|CACNA1E_ENST00000367573.2_Silent_p.K117K|CACNA1E_ENST00000357570.5_Silent_p.K68K|CACNA1E_ENST00000358338.5_Silent_p.K68K|CACNA1E_ENST00000367570.1_Silent_p.K117K|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	117					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						AGGATGACAAGACCCCCATGT	0.522000													7	35					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112190	81112190	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:81112190C>A	ENST00000228644.3	+	2	707	c.555C>A	c.(553-555)atC>atA	p.I185I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	185					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TTGACAGCATCTACTGTCCTG	0.388000													25	104					1.66031e-10	2.08804e-10	1	1	0
C4orf40	401137	broad.mit.edu	37	4	71024146	71024146	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:71024146C>A	ENST00000344526.5	+	3	366	c.177C>A	c.(175-177)gtC>gtA	p.V59V	C4orf40_ENST00000502294.1_Silent_p.V59V|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	59						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGAATACAGTCCCCAGTTACC	0.453000													44	90					2.47872e-24	3.5234e-24	1	1	0
BAHCC1	57597	broad.mit.edu	37	17	79418800	79418800	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:79418800G>A	ENST00000307745.7	+	16	4083	c.4083G>A	c.(4081-4083)gcG>gcA	p.A1361A																								CTGCCCCAGCGCAGCCGCCCA	0.687000													3	21					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673780	36673780	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:36673780T>A	ENST00000355114.5	-	5	1934	c.1208A>T	c.(1207-1209)tAt>tTt	p.Y403F	ZNF565_ENST00000392173.2_Missense_Mutation_p.Y363F|ZNF565_ENST00000304116.5_Missense_Mutation_p.Y363F			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTTACACTCATAGGGTTTCTC	0.483000													16	64					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29185322	29185322	+	Silent	SNP	C	C	T	rs140973444		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:29185322C>T	ENST00000321990.4	+	9	3315	c.2937C>T	c.(2935-2937)tcC>tcT	p.S979S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	979					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TACTTTCTTCCGAGTGTCATA	0.264000													3	24					0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52619848	52619848	+	Silent	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:52619848C>A	ENST00000493422.1	-	4	320	c.165G>T	c.(163-165)gtG>gtT	p.V55V		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	55	GST N-terminal.|Glutathione binding.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CAACCATTGGCACTTGCTGGA	0.403000													15	83					7.93312e-07	9.19746e-07	1	1	0
LAG3	3902	broad.mit.edu	37	12	6883837	6883837	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:6883837C>T	ENST00000203629.2	+	4	921	c.588C>T	c.(586-588)cgC>cgT	p.R196R	LAG3_ENST00000441671.2_Silent_p.R196R	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	196	Ig-like C2-type 1.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCTGACCGCCCAGCCTCTG	0.617000													5	85					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25483216	25483216	+	RNA	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:25483216A>T	ENST00000453082.2	+	0	1979					NR_003343.1																						CTGAAGCCCAAGCTAGGTGAG	0.458000													15	79					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765207	141765207	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:141765207G>C	ENST00000475668.2	+	38	4611	c.4557G>C	c.(4555-4557)tgG>tgC	p.W1519C	MGAM_ENST00000549489.2_Missense_Mutation_p.W1519C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1519	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGCCGCTGGGCAGGACATT	0.612000													4	18					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62935916	62935916	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:62935916G>T	ENST00000514591.1	+	25	4029	c.3700G>T	c.(3700-3702)Ggc>Tgc	p.G1234C	LPHN3_ENST00000545650.1_Missense_Mutation_p.G1234C|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1345C|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1268C|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1336C|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000512091.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1277C|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1293C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1212					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CATTGCCAGCGGCGAATACCT	0.453000													13	27					9.05144e-12	1.166e-11	1	1	0
AATF	26574	broad.mit.edu	37	17	35346000	35346000	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:35346000C>T	ENST00000225402.5	+	6	1381	c.1130C>T	c.(1129-1131)gCt>gTt	p.A377V		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	377	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACCAAACTGGCTTCTGGAAAA	0.463000													6	39					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890873	207890873	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:207890873T>C	ENST00000508064.2	+	11	1539	c.1479T>C	c.(1477-1479)gaT>gaC	p.D493D		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	493	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTTGGAGATATTCCCTATG	0.453000													16	98					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16682009	16682009	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:16682009C>T	ENST00000513610.1	-	31	4614	c.4160G>A	c.(4159-4161)aGa>aAa	p.R1387K	MYO10_ENST00000515803.1_Missense_Mutation_p.R726K|MYO10_ENST00000427430.2_Missense_Mutation_p.R744K|MYO10_ENST00000505695.1_Missense_Mutation_p.R726K|MYO10_ENST00000274203.9_Missense_Mutation_p.R744K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1387					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCCCTCCACTCTGGTGTCCCC	0.577000													16	82					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102523	66102523	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:66102523G>T	ENST00000349533.6	+	20	3508	c.3323G>T	c.(3322-3324)tGt>tTt	p.C1108F	LEPR_ENST00000406510.3_Missense_Mutation_p.C175F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1108					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAGCCCCCTGTTTATTCACG	0.413000													12	33					5.50884e-06	6.15596e-06	1	1	0
VPS4A	27183	broad.mit.edu	37	16	69349973	69349973	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:69349973G>T	ENST00000254950.11	+	2	240	c.84G>T	c.(82-84)gcG>gcT	p.A28A	VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Silent_p.A52A	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	28	Interaction with CHMP1B.|MIT.				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ACGAGGAGGCGCTGCGGCTGT	0.577000													30	73					5.91797e-21	8.28515e-21	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94037685	94037685	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:94037685G>A	ENST00000297268.6	+	15	1202	c.731G>A	c.(730-732)gGt>gAt	p.G244D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	244					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTCCCGTGGGTCCTGCTGTA	0.438000										HNSCC(75;0.22)			26	77					0	0	1	0	0
EVA1A	84141	broad.mit.edu	37	2	75720460	75720460	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:75720460C>A	ENST00000233712.1	-	4	798	c.361G>T	c.(361-363)Gcc>Tcc	p.A121S	EVA1A_ENST00000393913.3_Missense_Mutation_p.A121S|EVA1A_ENST00000410071.1_Missense_Mutation_p.A121S|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.A121S|EVA1A_ENST00000410010.1_Missense_Mutation_p.A109S	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		AGCCGCTGGGCGCGCTCCAGC	0.617000													11	51					0.000978159	0.00104281	1	1	0
CFTR	1080	broad.mit.edu	37	7	117171079	117171079	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:117171079A>G	ENST00000003084.6	+	4	532	c.400A>G	c.(400-402)Agg>Ggg	p.R134G	CFTR_ENST00000454343.1_Missense_Mutation_p.R134G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	134	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTTATTGTGAGGACACTGCT	0.418000									Cystic Fibrosis				9	36					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													5	74					0.014758	0.0151668	1	1	0
KIAA0895	23366	broad.mit.edu	37	7	36396959	36396959	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:36396959G>A	ENST00000317020.6	-	2	566	c.266C>T	c.(265-267)tCt>tTt	p.S89F	KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000297063.6_Missense_Mutation_p.S140F|KIAA0895_ENST00000338533.5_Missense_Mutation_p.S127F|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000415803.2_Missense_Mutation_p.S127F|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.S89F	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	140										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTGTTAGGAGATTTGCTGGG	0.468000													15	37					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90617403	90617403	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:90617403A>G	ENST00000268154.4	+	4	1957	c.1706A>G	c.(1705-1707)cAc>cGc	p.H569R		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ATGCACCTGCACGCCGGCAGC	0.582000													7	50					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138391439	138391439	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:138391439T>C	ENST00000310018.2	-	22	2735	c.2453A>G	c.(2452-2454)tAt>tGt	p.Y818C	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.Y818C|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.Y818C	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	818					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCCCCGACATAGAACTTGTT	0.522000													7	60					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51984467	51984467	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:51984467G>A	ENST00000220478.3	+	7	1205	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SCG3_ENST00000542355.2_Missense_Mutation_p.E36K	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	268					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCTACAGTGAAGACAACTT	0.383000													5	75					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55625272	55625272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:55625272G>A	ENST00000370830.3	-	5	1785	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	BMP5_ENST00000446683.2_Missense_Mutation_p.R363W	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	363					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R363W(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCAGATCCCGGAAGCTCACA	0.358000													13	51					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128418	147128418	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:147128418G>A	ENST00000282928.4	+	1	1248	c.519G>A	c.(517-519)ccG>ccA	p.P173P		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	173					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGTACCCGCGACCGGAGC	0.682000													6	65					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677927	25677927	+	Silent	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:25677927G>T	ENST00000382051.3	+	13	1679	c.1629G>T	c.(1627-1629)acG>acT	p.T543T	SLC34A2_ENST00000503434.1_Silent_p.T542T|SLC34A2_ENST00000504570.1_Silent_p.T542T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	543					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T543T(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCCGCTGACGGTGTTTGGCC	0.602000			T	ROS1	NSCLC								30	106					6.29468e-14	8.34046e-14	1	1	0
CC2D2B	387707	broad.mit.edu	37	10	97769595	97769595	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:97769595A>G	ENST00000371198.2	+	12	1348	c.308A>G	c.(307-309)aAg>aGg	p.K103R	ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000344386.3_Missense_Mutation_p.K12R|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K12R|ENTPD1-AS1_ENST00000451364.1_RNA			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	12										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CACTGTCTCAAGAGCTGTAGT	0.308000													15	51					0	0	1	0	0
AMT	275	broad.mit.edu	37	3	49455267	49455267	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:49455267C>G	ENST00000273588.3	-	8	1319	c.1017G>C	c.(1015-1017)atG>atC	p.M339I	AMT_ENST00000458307.2_Missense_Mutation_p.M295I|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Missense_Mutation_p.M283I|AMT_ENST00000395338.2_Missense_Mutation_p.M339I|AMT_ENST00000546031.1_Missense_Mutation_p.M242I	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	339					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGGTACCCTCCATGTTCAGGA	0.622000													37	84					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9122825	9122825	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:9122825G>A	ENST00000382496.5	-	14	2389	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	575	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACCACACTGCGGGGCCGGGCT	0.632000													6	98					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78167687	78167687	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr13:78167687C>A	ENST00000535157.1	+	11	835	c.665C>A	c.(664-666)tCa>tAa	p.S222*	SCEL_ENST00000349847.3_Nonsense_Mutation_p.S244*|SCEL_ENST00000377246.3_Intron	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	244					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GTGGCCACTTCACTTCAGAGA	0.383000													4	31					2.56e-06	2.91337e-06	1	1	0
AC226119.5	0	broad.mit.edu	37	4	3948596	3948596	+	RNA	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:3948596C>T	ENST00000281228.8	-	0	789				FAM86EP_ENST00000313946.8_RNA																							AGCCAGCCTCCGCAGGACCCC	0.587000													4	72					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643193	156643193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:156643193C>T	ENST00000296518.7	+	9	1929	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.R316*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.R574*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	574	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTTCAGATGCGAATTGGACT	0.398000													15	149					0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119488	17119488	+	RNA	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:17119488G>C	ENST00000426585.1	+	0	300																											AGTTTTCCTGGTCTTACTGGA	0.338000													12	40					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148599396	148599396	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:148599396G>A	ENST00000296046.3	+	7	716	c.664G>A	c.(664-666)Gga>Aga	p.G222R	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	222					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAATGTTGATGGATATATTTG	0.363000													13	50					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGCGCGGACGCGGGTGCCG	0.617000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	35					1.36161e-19	1.87791e-19	1	1	0
DUSP5	1847	broad.mit.edu	37	10	112266724	112266724	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:112266724A>G	ENST00000369583.3	+	3	844	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	187	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCCTTCCTCTACCTTGGAAGT	0.527000													83	232					0	0	1	0	0
DCXR	51181	broad.mit.edu	37	17	79994505	79994505	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:79994505G>A	ENST00000306869.2	-	5	412	c.363C>T	c.(361-363)ggC>ggT	p.G121G	DCXR_ENST00000584318.1_5'UTR	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	121					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGCTATTAAGCCCCTGGCCA	0.612000													27	83					0	0	1	0	0
NME4	4833	broad.mit.edu	37	16	449681	449681	+	Missense_Mutation	SNP	G	G	A	rs145944648	byFrequency	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:449681G>A	ENST00000397722.1	+	4	646	c.172G>A	c.(172-174)Gac>Aac	p.D58N	NME4_ENST00000382940.4_Missense_Mutation_p.D136N|NME4_ENST00000450036.1_Missense_Mutation_p.D58N|NME4_ENST00000219479.2_Missense_Mutation_p.D128N			O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	128					CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				TGGACACACCGACTCGGCTGA	0.612000													18	121					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919582	4919582	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:4919582G>C	ENST00000433855.1	+	1	1241	c.375G>C	c.(373-375)caG>caC	p.Q125H	KCNA6_ENST00000280684.3_Missense_Mutation_p.Q125H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	125						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCTTCTACCAGCTGGGGGACG	0.687000										HNSCC(72;0.22)			28	87					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131680	142131680	+	RNA	SNP	T	T	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:142131680T>G	ENST00000390375.2	-	0	115																											GTGTGGGACTTTGGGTGACTC	0.557000													19	81					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201460033	201460033	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:201460033G>A	ENST00000374700.2	+	3	383	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	48	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGAGGAGGAGGCTGTGGTGC	0.418000													3	15					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212545	55212545	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:55212545C>A	ENST00000396834.1	+	17	2331	c.1835C>A	c.(1834-1836)cCc>cAc	p.P612H	IL31RA_ENST00000490985.1_Missense_Mutation_p.P489H|IL31RA_ENST00000447346.2_Missense_Mutation_p.P631H|IL31RA_ENST00000354961.4_Missense_Mutation_p.P612H|IL31RA_ENST00000359040.5_Missense_Mutation_p.P631H	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	599					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTTCCACCCCCAGTGACAAG	0.428000													10	34					1.76689e-08	2.12142e-08	1	1	0
PCMTD1	115294	broad.mit.edu	37	8	52733186	52733186	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:52733186C>A	ENST00000360540.5	-	7	1205	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	PCMTD1_ENST00000522514.1_Missense_Mutation_p.G267W|PCMTD1_ENST00000544451.1_Missense_Mutation_p.G191W|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	267						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGAGGAATCCCCTTGGCCTGC	0.423000													5	142					3.59834e-05	3.938e-05	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50280582	50280582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:50280582C>T	ENST00000404971.1	-	22	5414	c.4075G>A	c.(4075-4077)Gcc>Acc	p.A1359T	NRXN1_ENST00000401669.2_Missense_Mutation_p.A1319T|NRXN1_ENST00000401710.1_Missense_Mutation_p.A307T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000342183.5_Missense_Mutation_p.A254T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A1311T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A1289T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A1289T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1289					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCACTATGGCGATGTTGGCA	0.507000													28	61					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190744	131190744	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:131190744C>T	ENST00000337057.3	-	15	2747	c.2566G>A	c.(2566-2568)Gtt>Att	p.V856I	EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V786I|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.V234I|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V856I	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	856	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCAATGTCAACATGGGACACC	0.483000													4	77					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52797605	52797605	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:52797605G>T	ENST00000257974.2	-	2	577	c.500C>A	c.(499-501)cCc>cAc	p.P167H		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	167	Coil 1B.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTCGAAGATGGGCTCGATGTT	0.602000													23	70					2.21704e-12	2.8962e-12	1	1	0
C10orf53	282966	broad.mit.edu	37	10	50902583	50902583	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:50902583G>T	ENST00000374111.3	+	3	229		c.e3-1		C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53											endometrium(1)|lung(6)	7		all_neural(218;0.107)				TGTTTCCCTAGGAGGCGATGG	0.438000													18	36					1.01871e-10	1.28552e-10	1	1	0
CNTN3	5067	broad.mit.edu	37	3	74420439	74420439	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:74420439G>C	ENST00000263665.6	-	5	593	c.566C>G	c.(565-567)tCt>tGt	p.S189C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	189	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCCACATCAGACGGCTCCAC	0.473000													4	33					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222134	55222134	+	RNA	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:55222134A>T	ENST00000413439.1	+	0	1661																											CAGCTCACGCAGATTCTTCCC	0.602000													14	85					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113349777	113349777	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:113349777C>T	ENST00000297405.5	-	43	7080	c.6836G>A	c.(6835-6837)tGt>tAt	p.C2279Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.C2239Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2209Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2175Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2279	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATACCTTCACACCTTGGAAG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	41					0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125791159	125791159	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:125791159T>C	ENST00000263576.6	+	11	1430	c.1275T>C	c.(1273-1275)taT>taC	p.Y425Y	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	425	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGCCGGACTATGAGACCTACC	0.493000													10	13					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364551	29364551	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:29364551C>T	ENST00000383555.2	+	1	136	c.75C>T	c.(73-75)ctC>ctT	p.L25L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AGCCTTTTCTCTTCGTGGTTT	0.433000													25	116					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552018	57552018	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr16:57552018G>T	ENST00000258214.2	-	6	1456	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	404										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTGGCCCTCAGGTCGCAGTCC	0.687000													50	101					3.4597e-24	4.89904e-24	1	1	0
DIP2C	22982	broad.mit.edu	37	10	429991	429991	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:429991T>A	ENST00000280886.6	-	16	1939	c.1852A>T	c.(1852-1854)Ata>Tta	p.I618L	DIP2C_ENST00000381496.3_Missense_Mutation_p.I511L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	618						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCGCCACTATCAGCATTCGC	0.507000													17	49					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66262881	66262881	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:66262881A>T	ENST00000532677.1	+	14	1956	c.1555A>T	c.(1555-1557)Agc>Tgc	p.S519C	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.S500C|DPP3_ENST00000360510.2_Missense_Mutation_p.S500C|DPP3_ENST00000531863.1_Missense_Mutation_p.S520C|DPP3_ENST00000530165.1_Missense_Mutation_p.S470C|DPP3_ENST00000541961.1_Missense_Mutation_p.S500C	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	500					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TAGCAAGTTCAGCACCATCGC	0.617000													6	21					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579452	82579452	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:82579452C>A	ENST00000423517.2	-	6	10789	c.10452G>T	c.(10450-10452)atG>atT	p.M3484I	PCLO_ENST00000437081.1_Missense_Mutation_p.M204I|PCLO_ENST00000333891.8_Missense_Mutation_p.M3484I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3415					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTAGTAGGCATATCCCACT	0.468000													11	44					6.40141e-05	6.94422e-05	1	1	0
PLRG1	5356	broad.mit.edu	37	4	155461982	155461982	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:155461982A>C	ENST00000499023.2	-	9	918	c.792T>G	c.(790-792)tgT>tgG	p.C264W	PLRG1_ENST00000393905.2_Missense_Mutation_p.C264W|PLRG1_ENST00000302078.5_Missense_Mutation_p.C255W	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	264						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TGTCTTCTCCACAAGAGAACA	0.393000													11	64					0	0	1	0	0
FAM163B	642968	broad.mit.edu	37	9	136444284	136444284	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:136444284C>T	ENST00000496132.1	-	3	605	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FAM163B_ENST00000356873.3_Missense_Mutation_p.V121M			P0C2L3	F163B_HUMAN	family with sequence similarity 163, member B	121						integral to membrane				large_intestine(1)	1						TTGTAGAGCACGCGCTCCCCG	0.716000													6	20					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972525	92972525	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:92972525G>C	ENST00000523629.1	-	12	2214	c.1760C>G	c.(1759-1761)aCt>aGt	p.T587S	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T550S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T560S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T598S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T550S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T587S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T550S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	587					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGACCTCGGAGTGGCTGCTGG	0.622000													7	14					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458622	16458622	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:16458622C>A	ENST00000358432.5	-	13	2416	c.2262G>T	c.(2260-2262)aaG>aaT	p.K754N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	754	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGTCAGACACCTTGCAGACCA	0.612000													39	111					2.05212e-20	2.86217e-20	1	1	0
ATP6V1H	51606	broad.mit.edu	37	8	54669137	54669137	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:54669137G>A	ENST00000355221.3	-	11	1760	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R379W|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R419W|ATP6V1H_ENST00000523899.1_Intron|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R419W	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	419					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GGATAATGCCGCACATATTCT	0.368000													8	44					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37285383	37285383	+	Silent	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:37285383A>G	ENST00000373091.3	-	12	1843	c.1827T>C	c.(1825-1827)acT>acC	p.T609T	GRIK3_ENST00000373093.4_Silent_p.T609T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	609					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTTAAGCAGAGTGAAGTTAT	0.572000													3	14					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2638813	2638813	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:2638813G>A	ENST00000329276.5	+	12	2174	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	553	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GCAGGCCACAGAAGTGGCTCC	0.522000													3	13					0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50438984	50438984	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:50438984G>A	ENST00000389983.2	-	6	521	c.257C>T	c.(256-258)gCc>gTc	p.A86V	IL17REL_ENST00000341280.5_Missense_Mutation_p.A86V	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	86										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGTGCTGGGCCACGCTCAC	0.647000													20	65					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47605460	47605460	+	Silent	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:47605460A>G	ENST00000273857.4	-	20	2765	c.2766T>C	c.(2764-2766)ccT>ccC	p.P922P	CORIN_ENST00000502252.1_Silent_p.P855P|CORIN_ENST00000505909.1_Silent_p.P885P|CORIN_ENST00000508498.1_Silent_p.P783P	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	922	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGTACGTGTCAGGCTCTAGCC	0.512000													22	40					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997564	28997564	+	RNA	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:28997564G>A	ENST00000322982.3	-	0	370				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										TGGGGATGCTGGCAGTCGCAG	0.721000													15	32					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56473886	56473886	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:56473886G>T	ENST00000370754.5	-	39	5440	c.5441C>A	c.(5440-5442)gCt>gAt	p.A1814D	DST_ENST00000361203.3_Missense_Mutation_p.A1636D|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.A1636D|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.A1636D|DST_ENST00000446842.2_Missense_Mutation_p.A1310D|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	1636					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGACGCAGCAGAAATAAT	0.408000													49	135					1.42923e-14	1.91424e-14	1	1	0
LHFPL3	375612	broad.mit.edu	37	7	104377184	104377184	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:104377184C>T	ENST00000535008.1	+	4	632	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	LHFPL3_ENST00000543266.1_Missense_Mutation_p.R170W|LHFPL3_ENST00000424859.1_Missense_Mutation_p.R156W|LHFPL3_ENST00000401970.2_Missense_Mutation_p.R156W			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	156						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TGAAGTAAAACGGATGTGTGG	0.453000													10	18					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21639538	21639538	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:21639538C>A	ENST00000328843.6	+	15	2832	c.2801C>A	c.(2800-2802)aCa>aAa	p.T934K	DNAH11_ENST00000409508.3_Missense_Mutation_p.T934K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	934	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGAAGAATACAGAGAAACAA	0.408000									Kartagener syndrome				10	27					0.00621372	0.00653056	1	1	0
HIST1H2AH	85235	broad.mit.edu	37	6	27114944	27114944	+	Missense_Mutation	SNP	G	G	T	rs150434841		TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:27114944G>T	ENST00000377459.1	+	1	84	c.37G>T	c.(37-39)Gcc>Tcc	p.A13S		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	13					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAAGCTCGCGCCAAGGCCAA	0.577000													13	78					7.03913e-09	8.53437e-09	1	1	0
OPRK1	4986	broad.mit.edu	37	8	54163396	54163396	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:54163396C>T	ENST00000265572.3	-	2	499	c.202G>A	c.(202-204)Gta>Ata	p.V68I	OPRK1_ENST00000520287.1_Missense_Mutation_p.V68I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	68					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACGAACACTACGGAGTAGACC	0.701000													4	50					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219892334	219892334	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:219892334G>C	ENST00000409865.3	-	13	2219	c.2216C>G	c.(2215-2217)tCt>tGt	p.S739C	CCDC108_ENST00000410037.1_Missense_Mutation_p.S685C|CCDC108_ENST00000341552.5_Intron|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron	NM_001278295.1	NP_001265224.1	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	0						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCCTAGCAGAGACCCCGCA	0.602000													8	123					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188671	57188671	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:57188671T>C	ENST00000331162.4	-	5	721	c.451A>G	c.(451-453)Act>Gct	p.T151A		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTTGGGTAGTTGACAAACAT	0.303000													17	55					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813749	42813749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:42813749G>T	ENST00000499536.2	+	1	824	c.13G>T	c.(13-15)Gga>Tga	p.G5*	PRR19_ENST00000341747.3_Nonsense_Mutation_p.G5*|PRR19_ENST00000598490.1_Nonsense_Mutation_p.G5*			A6NJB7	PRR19_HUMAN	proline rich 19	5										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGATACCCAGGGACCAGTCTC	0.582000													24	84					1.10923e-09	1.37634e-09	1	1	0
RUNX1T1	862	broad.mit.edu	37	8	92998397	92998397	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:92998397G>T	ENST00000523629.1	-	9	1688	c.1234C>A	c.(1234-1236)Cac>Aac	p.H412N	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H375N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H385N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H423N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H375N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H412N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H375N	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	412	Poly-Ser.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCTAGAGTGGCTGCTGCTA	0.488000													48	154					7.05377e-20	9.76473e-20	1	1	0
YOD1	55432	broad.mit.edu	37	1	207222565	207222565	+	Silent	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:207222565G>A	ENST00000367084.1	-	4	919	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	YOD1_ENST00000391927.1_Silent_p.L239L|YOD1_ENST00000315927.4_Silent_p.L283L	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	283	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					AAAATGGTCAGAGGAGGTGTA	0.423000													16	94					0	0	1	0	0
ASCL1	429	broad.mit.edu	37	12	103352481	103352481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr12:103352481G>C	ENST00000266744.3	+	1	1018	c.459G>C	c.(457-459)aaG>aaC	p.K153N		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	153	Helix-loop-helix motif.				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						CCAACAAGAAGATGAGTAAGG	0.667000													9	38					0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108436099	108436099	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:108436099G>T	ENST00000281092.4	+	17	2311	c.1927G>T	c.(1927-1929)Ggt>Tgt	p.G643C	FER_ENST00000438717.2_Missense_Mutation_p.G468C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	643	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TCCTCTAGGAGGTGATTTCCT	0.353000													3	13					1	1	1	1	0
AGO3	192669	broad.mit.edu	37	1	36499931	36499931	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:36499931A>G	ENST00000373191.4	+	13	2097	c.1748A>G	c.(1747-1749)cAa>cGa	p.Q583R	AGO3_ENST00000246314.6_Missense_Mutation_p.Q349R	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GTACCTCATCAAAGGTAAGAT	0.313000													6	21					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41057403	41057403	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:41057403C>G	ENST00000399564.4	-	8	1266	c.816G>C	c.(814-816)ttG>ttC	p.L272F	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TGGATCTTCTCAAGCTCCTTG	0.418000													3	13					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53049182	53049182	+	Silent	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:53049182T>C	ENST00000276480.7	-	19	2951	c.2268A>G	c.(2266-2268)aaA>aaG	p.K756K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	756						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCATGAGGGATTTTAGAGTCT	0.483000													9	18					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45673780	45673780	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:45673780C>T	ENST00000322157.4	+	13	1725	c.1488C>T	c.(1486-1488)acC>acT	p.T496T	NPEPPS_ENST00000544660.1_Silent_p.T416T|NPEPPS_ENST00000530173.1_Silent_p.T492T	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	496					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGATGAATACCTGGACCAAAC	0.328000													4	5					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203188951	203188951	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:203188951C>T	ENST00000367229.1	-	8	790	c.756G>A	c.(754-756)caG>caA	p.Q252Q	CHIT1_ENST00000255427.3_Silent_p.Q233Q|CHIT1_ENST00000535569.1_Silent_p.Q243Q|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	252					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGGTCCCCTTCTGCAGCCACT	0.582000											OREG0006436	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	4	50					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67101628	67101628	+	Splice_Site	SNP	A	A	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr1:67101628A>C	ENST00000371037.4	+	4	178	c.99_splice	c.e4-1	p.Q34_splice	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron|SGIP1_ENST00000468286.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	34					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAATTCCAGCAGCCCAGCCCA	0.383000													31	84					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													4	28					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608275	84608275	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr9:84608275C>T	ENST00000344803.2	+	4	2937	c.2890C>T	c.(2890-2892)Cgt>Tgt	p.R964C		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTCTAAGTCCCGTAGTCGAAG	0.512000													66	54					0	0	1	0	0
BZW1	9689	broad.mit.edu	37	2	201683058	201683058	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr2:201683058G>A	ENST00000409600.1	+	8	1216	c.761G>A	c.(760-762)cGt>cAt	p.R254H	BZW1_ENST00000409226.1_Missense_Mutation_p.R258H|BZW1_ENST00000452790.2_Missense_Mutation_p.R286H	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	254	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						ATCGGAGCTCGTAAGGAGCTC	0.403000													13	38					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623640	623640	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr8:623640T>A	ENST00000262109.7	-	4	789	c.712A>T	c.(712-714)Agc>Tgc	p.S238C	ERICH1_ENST00000522706.1_Missense_Mutation_p.S144C	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	238	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTTCCTCGCTAGCGTCCGCA	0.622000													38	181					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533682	92533682	+	Silent	SNP	C	C	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr11:92533682C>T	ENST00000298047.6	+	9	7520	c.7503C>T	c.(7501-7503)taC>taT	p.Y2501Y	FAT3_ENST00000409404.2_Silent_p.Y2501Y|FAT3_ENST00000525166.1_Silent_p.Y2351Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2501	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGCACATACGTAGCTGAGG	0.498000										TCGA Ovarian(4;0.039)			7	27					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	31					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364066	22364066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:22364066G>T	ENST00000397121.2	-	3	770	c.453C>A	c.(451-453)tgC>tgA	p.C151*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C151fs*1(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTGAAAGCATGCAAAATGATC	0.333000													21	57					2.39187e-15	3.25049e-15	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102196375	102196377	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:102196375_102196377delTCT	ENST00000306176.1	+	11	1309_1311	c.1209_1211delTCT	c.(1207-1212)tct>tc	p.SL403del	ZPLD1_ENST00000466937.1_In_Frame_Del_p.SL387del|ZPLD1_ENST00000491959.1_In_Frame_Del_p.SL387del	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	387						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGAGCTTTTCTCTTCTTCTGTGC	0.468													27	204	---	---	---	---					
SMC4	10051	broad.mit.edu	37	3	160137291	160137291	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr3:160137291delA	ENST00000357388.3	+	12	2268	c.1817delA	c.(1816-1818)gafs	p.E606fs	SMC4_ENST00000469762.1_Frame_Shift_Del_p.E581fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.E606fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.E606fs|SMC4_ENST00000360111.2_Frame_Shift_Del_p.E606fs|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	606	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATAATTCAAGAAAAAAAATCT	0.338													34	109	---	---	---	---					
PTPN13	5783	broad.mit.edu	37	4	87655581	87655581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr4:87655581delT	ENST00000436978.1	+	13	2464	c.1984delT	c.(1984-1986)ttfs	p.F663fs	PTPN13_ENST00000427191.2_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000316707.6_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000411767.2_Frame_Shift_Del_p.F663fs|PTPN13_ENST00000511467.1_Frame_Shift_Del_p.F663fs	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	663	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAGAATTAAATTTTTTATGGA	0.348													2	4	---	---	---	---					
CTNND2	1501	broad.mit.edu	37	5	11346484	11346485	+	Splice_Site	INS	-	-	T			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:11346484_11346485insT	ENST00000304623.8	-	9	1816_1817	c.1628_splice	c.e9+1	p.R543_splice	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Splice_Site_p.R110_splice|CTNND2_ENST00000359640.2_Splice_Site_p.R543_splice|CTNND2_ENST00000511377.1_Splice_Site_p.R452_splice|CTNND2_ENST00000503622.1_Splice_Site_p.R206_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	543					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTTTACCCACCTGGGATCTTTC	0.460													22	102	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130841136	130841136	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:130841136delC	ENST00000509018.1	-	10	1227	c.1022delG	c.(1021-1023)gafs	p.G341fs	RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.G56fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.G341fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.G341fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.G391fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	341					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAACTATTTCCCATAAACAA	0.358													10	52	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150946859	150946860	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr5:150946859_150946860insC	ENST00000261800.5	-	1	1645_1646	c.1633_1634insG	c.(1633-1635)gaafs	p.E545fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	545	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTTCCTTCTCCCGGCGAAAA	0.480													23	61	---	---	---	---					
SCUBE3	222663	broad.mit.edu	37	6	35182262	35182262	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr6:35182262delT	ENST00000274938.7	+	1	67	c.67delT	c.(67-69)acfs	p.Y23fs	SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.Y23fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	23					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGCCGCCCAGTACAGCAAAGC	0.741													2	4	---	---	---	---					
RP11-340I6.7	0	broad.mit.edu	37	7	63351415	63351415	+	RNA	DEL	G	G	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr7:63351415delG	ENST00000587736.1	-	0	688																											CAATGGCCCAGGGGGATGTGC	0.617													7	18	---	---	---	---					
GPR123	84435	broad.mit.edu	37	10	134884646	134884646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr10:134884646delG	ENST00000607359.1	+	1	214	c.214delG	c.(214-216)gafs	p.G72fs				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAGCTTTCCCGGAGCAAAGGT	0.652													3	5	---	---	---	---					
NEIL1	79661	broad.mit.edu	37	15	75641258	75641258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr15:75641258delC	ENST00000564784.1	+	3	641	c.12delC	c.(10-12)ggfs	p.G4fs	NEIL1_ENST00000569035.1_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000355059.4_Frame_Shift_Del_p.G4fs|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	4					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGCCTGAGGGCCCCGAGCTGC	0.657								Base excision repair (BER), DNA glycosylases					17	40	---	---	---	---					
SLC16A5	9121	broad.mit.edu	37	17	73089780	73089780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr17:73089780delC	ENST00000450736.2	+	2	464	c.49delC	c.(49-51)tgfs	p.L18fs	SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000580123.1_Frame_Shift_Del_p.L18fs|SLC16A5_ENST00000538213.2_Frame_Shift_Del_p.L58fs			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	18					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGGTGGTGCTGCTGGCCAC	0.647													18	51	---	---	---	---					
FBN3	84467	broad.mit.edu	37	19	8155123	8155124	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr19:8155123_8155124delCT	ENST00000600128.1	-	49	6457_6458	c.6043_6044delAG	c.(6043-6045)tfs	p.S2015fs	FBN3_ENST00000601739.1_Frame_Shift_Del_p.S2015fs|FBN3_ENST00000270509.2_Frame_Shift_Del_p.S2015fs			Q75N90	FBN3_HUMAN	fibrillin 3	2015	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCAGAAACTCTGCCGTGTG	0.619													24	29	---	---	---	---					
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63T-01A-11D-A28R-08	TCGA-CN-A63T-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9087f21-6e78-4358-99a9-9500177fc0b6	71bceed8-a75f-4ff6-bc1d-ab198b24c0aa	g.chr20:56227349delG	ENST00000341744.3	-	4	943	c.624delC	c.(622-624)ccfs	p.P208fs	PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.P173fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.P158fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.P158fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	208					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGTTACTGCTGGGGGGGCAGG	0.682													29	67	---	---	---	---					
