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
PPFIA2	8499	broad.mit.edu	37	12	81839373	81839373	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:81839373T>C	ENST00000550584.2	-	5	827	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E	PPFIA2_ENST00000443686.3_Missense_Mutation_p.K104E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K178E|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K160E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K178E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K160E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K104E|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.K178E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K25E|RP11-315E17.1_ENST00000550272.1_RNA	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	104										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AACAAAGATTTCAGTGCCTTG	0.433000													12	38					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578599	2578599	+	Missense_Mutation	SNP	G	G	A	rs146149020		TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:2578599G>A	ENST00000302956.4	+	8	1103	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A337T			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	323					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTCCCAGCCCGCATGCCAGGT	0.677000													7	35					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54383208	54383208	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:54383208C>A	ENST00000303460.4	+	2	1081	c.1007C>A	c.(1006-1008)aCc>aAc	p.T336N	HOXC10_ENST00000511575.1_3'UTR	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	336					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CGGGAACTGACCTCCAATTTT	0.478000											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					2.56e-06	2.78261e-06	1	1	0
MDC1	9656	broad.mit.edu	37	6	30672646	30672646	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr6:30672646A>C	ENST00000376406.3	-	10	4961	c.4314T>G	c.(4312-4314)aaT>aaG	p.N1438K	MDC1_ENST00000376405.2_Missense_Mutation_p.N1174K|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1438	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CAGAGGACCTATTTGTCCTGC	0.587000								Other conserved DNA damage response genes					29	130					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		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)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	177					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57620204	57620204	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:57620204G>T	ENST00000374888.1	+	1	1936	c.1723G>T	c.(1723-1725)Ggc>Tgc	p.G575C		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	575	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GCATAAGGTGGGCCAGGATCT	0.473000													18	106					8.04996e-18	9.14768e-18	1	1	0
PPEF2	5470	broad.mit.edu	37	4	76813080	76813080	+	Missense_Mutation	SNP	C	C	T	rs61757739	byFrequency	TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr4:76813080C>T	ENST00000286719.7	-	3	463	c.107G>A	c.(106-108)cGc>cAc	p.R36H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	36	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CATCTCCAGGCGGGCCACGTA	0.587000													23	35					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5041493	5041493	+	Missense_Mutation	SNP	G	G	A	rs145087393	byFrequency	TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:5041493G>A	ENST00000574788.1	+	21	3233	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	USP6_ENST00000250066.6_Missense_Mutation_p.D335N|USP6_ENST00000304328.5_De_novo_Start_InFrame|USP6_ENST00000332776.4_Missense_Mutation_p.D335N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	335					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCCATGAACGATGACACCGT	0.577000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								14	113					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126861	19126861	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:19126861A>G	ENST00000381440.3	+	1	1608	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	360						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAAGCTGCTGAGTTGGCTGCA	0.667000													14	63					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36104708	36104708	+	Silent	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:36104708G>A	ENST00000225893.4	-	1	529	c.168C>T	c.(166-168)ccC>ccT	p.P56P	HNF1B_ENST00000427275.2_Silent_p.P56P|HNF1B_ENST00000561193.1_Silent_p.P56P|HNF1B_ENST00000560016.1_Silent_p.P56P	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	56					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GCTTGGTGTCGGGCTCGGCCC	0.667000													20	31					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11779671	11779671	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:11779671A>G	ENST00000294485.5	+	7	1103	c.968A>G	c.(967-969)aAc>aGc	p.N323S		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		TTCCACCGGAACCGCAGGGTT	0.682000											OREG0013102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	15					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237754082	237754082	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:237754082C>T	ENST00000366574.2	+	31	4267	c.3950C>T	c.(3949-3951)aCg>aTg	p.T1317M	RYR2_ENST00000360064.6_Missense_Mutation_p.T1315M|RYR2_ENST00000542537.1_Missense_Mutation_p.T1301M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1317	4 X approximate repeats.				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)			TTCTCCAAGACGGTGGCTGGA	0.502000													57	82					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939063	22939063	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:22939063T>C	ENST00000397104.3	-	8	3057	c.3058A>G	c.(3058-3060)Aac>Gac	p.N1020D						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAAAGATGGTTAAAAGCTTTG	0.373000													5	24					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	741804	741804	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr20:741804G>A	ENST00000217254.7	-	5	1517	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	SLC52A3_ENST00000381944.3_3'UTR|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	426					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										AGGGCGCTGCGGCTGAGGTCG	0.682000													3	6					0	0	1	0	0
SOCS3	9021	broad.mit.edu	37	17	76354697	76354697	+	Silent	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:76354697G>A	ENST00000330871.2	-	2	895	c.480C>T	c.(478-480)ccC>ccT	p.P160P		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	160					anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CTCTTCTGGGGGGACTCCCAG	0.657000													3	46					0	0	1	0	0
FAM219B	57184	broad.mit.edu	37	15	75195058	75195058	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr15:75195058C>T	ENST00000357635.5	-	5	819	c.499G>A	c.(499-501)Gag>Aag	p.E167K	FAM219B_ENST00000563706.1_5'UTR|FAM219B_ENST00000563119.1_Missense_Mutation_p.E167K|FAM219B_ENST00000565772.1_Missense_Mutation_p.E81K	NM_020447.3	NP_065180.1	Q5XKK7	CO017_HUMAN	family with sequence similarity 219, member B	167							cytochrome-c oxidase activity										TCCAAGTCCTCGTCATCTGGA	0.557000													8	99					0	0	1	0	0
MGST2	4258	broad.mit.edu	37	4	140624623	140624623	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr4:140624623C>G	ENST00000265498.1	+	4	496	c.244C>G	c.(244-246)Ctg>Gtg	p.L82V	MGST2_ENST00000506797.1_Missense_Mutation_p.S58C|MGST2_ENST00000515137.1_3'UTR	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	82					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	TGCTACTTGTCTGGGTCTGGT	0.393000													4	33					0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909544	32909544	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:32909544C>T	ENST00000304056.4	-	4	1984	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	429										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TAAATGCAGTCATGAACCACA	0.463000													23	65					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31193979	31193979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:31193979C>T	ENST00000254108.7	+	3	289	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	FUS_ENST00000380244.3_Nonsense_Mutation_p.Q62*|RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Nonsense_Mutation_p.Q62*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	62	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGGCCAGAGCCAGAACAGTGA	0.493000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								32	53					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110217448	110217448	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:110217448G>A	ENST00000241337.4	+	8	697	c.647G>A	c.(646-648)gGc>gAc	p.G216D	GSTM2_ENST00000369827.3_Missense_Mutation_p.G177D|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000460717.3_Intron	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCTGTCTGGGGCAACAAGTAG	0.587000													12	70					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	20					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065802	9065802	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:9065802G>T	ENST00000397910.4	-	3	21847	c.21644C>A	c.(21643-21645)aCc>aAc	p.T7215N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7217	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGTGGAGGTAATAAACAT	0.483000													25	105					9.57634e-11	1.06404e-10	1	1	0
SACS	26278	broad.mit.edu	37	13	23905024	23905024	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr13:23905024G>A	ENST00000382298.3	-	10	13579	c.12991C>T	c.(12991-12993)Cgg>Tgg	p.R4331W	SACS_ENST00000402364.1_Missense_Mutation_p.R3581W|SACS_ENST00000382292.3_Missense_Mutation_p.R4331W	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4331	J.		R -> Q (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAATACAACCGCCTAATAATC	0.358000													4	99					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776796	13776796	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr5:13776796C>T	ENST00000265104.4	-	55	9229	c.9125G>A	c.(9124-9126)cGa>cAa	p.R3042Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3042	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3042Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATTTCATCTCGAGCAAATAG	0.383000									Kartagener syndrome				10	74					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166911191	166911191	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:166911191G>A	ENST00000423058.2	-	4	576	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R187W|SCN1A_ENST00000303395.4_Missense_Mutation_p.R187W|SCN1A_ENST00000375405.3_Missense_Mutation_p.R187W|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	187						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATGGATCCCGAAGGAAAGTA	0.353000													6	30					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	11					0.115264	0.116428	1	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128510	3128510	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr20:3128510A>T	ENST00000380266.3	-	2	1528	c.1207T>A	c.(1207-1209)Tta>Ata	p.L403I	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	403					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGGAAGCGTAAGGCCGAGCAG	0.483000													11	72					0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456519	40456519	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:40456519G>C	ENST00000378438.4	+	4	477	c.319G>C	c.(319-321)Gac>Cac	p.D107H	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.D31H|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000535539.1_Intron|ATP6AP2_ENST00000486558.1_Intron	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	107					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTTTAGTCTTGACAGTGTTGC	0.363000													4	40					0	0	1	0	0
CHST7	56548	broad.mit.edu	37	X	46433851	46433851	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:46433851G>A	ENST00000276055.3	+	1	633	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	162					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TCGCTCTTCCGCTGCGACTTC	0.692000													3	51					0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2312365	2312365	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:2312365A>T	ENST00000565678.1	-	6	1135	c.590T>A	c.(589-591)aTg>aAg	p.M197K	RNPS1_ENST00000567147.1_Missense_Mutation_p.M174K|RNPS1_ENST00000566458.1_Missense_Mutation_p.M174K|RNPS1_ENST00000568631.1_Missense_Mutation_p.M197K|RNPS1_ENST00000566397.1_Missense_Mutation_p.M20K|RNPS1_ENST00000397086.2_Missense_Mutation_p.M197K|RNPS1_ENST00000320225.5_Missense_Mutation_p.M197K|RNPS1_ENST00000569598.2_Missense_Mutation_p.M103K|RNPS1_ENST00000561718.1_Missense_Mutation_p.M20K|RNPS1_ENST00000301730.8_Missense_Mutation_p.M197K			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	197	Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						ATGGGGATGCATCCTTTCCAC	0.502000													12	67					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75477013	75477013	+	RNA	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr3:75477013G>A	ENST00000459803.1	-	0	425					NR_024241.1																						GGTACCATGGGAGATGATGGC	0.582000													4	17					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85615351	85615351	+	Silent	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr9:85615351G>A	ENST00000376447.3	-	11	1832	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	524					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CACCTACCTGGGGCGAGAGTG	0.458000													13	45					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820729	55820729	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:55820729G>T	ENST00000328314.3	+	1	692	c.692G>T	c.(691-693)aGa>aTa	p.R231I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCACAGCAAAGAAAAAAAGCC	0.368000													3	23					0.004672	0.00481649	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166900348	166900348	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:166900348G>A	ENST00000423058.2	-	11	1891	c.1874C>T	c.(1873-1875)aCc>aTc	p.T625I	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T625I|SCN1A_ENST00000303395.4_Missense_Mutation_p.T625I|SCN1A_ENST00000375405.3_Missense_Mutation_p.T625I|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	625						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACCTACTGGTCTGACTCAG	0.532000													7	36					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100286	110100286	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:110100286A>G	ENST00000518632.1	+	2	896	c.545A>G	c.(544-546)aAg>aGg	p.K182R	TRHR_ENST00000311762.2_Missense_Mutation_p.K182R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	182						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGTGGCTACAAGATCTCCAGG	0.418000													6	42					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411090	63411090	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:63411090G>A	ENST00000330258.3	-	2	2349	c.2077C>T	c.(2077-2079)Cca>Tca	p.P693S	AMER1_ENST00000403336.1_Missense_Mutation_p.P693S|AMER1_ENST00000374869.3_Missense_Mutation_p.P693S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTCCAGTCTGGCTCGCTGCTT	0.562000													8	22					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110445406	110445406	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:110445406T>A	ENST00000378402.5	+	28	3405	c.3301T>A	c.(3301-3303)Tca>Aca	p.S1101T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1101	IPT/TIG 4.				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)			TGTAACAGTCTCAGTTGGACC	0.348000										HNSCC(38;0.096)			51	131					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99729296	99729296	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr6:99729296C>G	ENST00000389677.5	-	6	1256	c.974G>C	c.(973-975)aGg>aCg	p.R325T	FAXC_ENST00000538471.1_Missense_Mutation_p.R45T|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	325																	CCTCCTTATCCTCTCACAGTA	0.498000													57	38					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46691870	46691870	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:46691870G>A	ENST00000239144.4	-	1	431	c.197C>T	c.(196-198)aCg>aTg	p.T66M	HOXB8_ENST00000576562.1_Missense_Mutation_p.T66M|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GTAGGGAGCCGTGGACAGCGA	0.687000													10	31					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780629	37780629	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:37780629C>T	ENST00000447769.1	+	4	923	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R212C			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	212						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAGAAGCTACGCCACTCTTT	0.413000													32	89					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43002090	43002090	+	Splice_Site	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:43002090G>T	ENST00000458501.2	+	2	202		c.e2-1		HGSNAT_ENST00000379644.4_Splice_Site			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase						lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTTCTACCAGACTTAGACAA	0.388000													4	13					0.150653	0.150653	1	1	0
RYR3	6263	broad.mit.edu	37	15	33955106	33955106	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr15:33955106A>C	ENST00000389232.4	+	35	5445	c.5375A>C	c.(5374-5376)aAa>aCa	p.K1792T	RYR3_ENST00000415757.3_Missense_Mutation_p.K1792T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1792	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCCTGTCAAAGGCTTGTTG	0.547000													71	49					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36708210	36708210	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr22:36708210T>G	ENST00000216181.5	-	14	1842	c.1612A>C	c.(1612-1614)Acc>Ccc	p.T538P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	538	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCTTGTCGGTGGCTTTGGGG	0.602000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				26	61					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77334188	77334188	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:77334188G>T	ENST00000477717.1	+	2	257	c.22G>T	c.(22-24)Ggt>Tgt	p.G8C	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	8					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCAGCGCCATGGTCTGGCAGT	0.667000													7	29					8.12818e-05	8.55598e-05	1	1	0
ACRBP	84519	broad.mit.edu	37	12	6753392	6753392	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:6753392G>C	ENST00000229243.2	-	5	948	c.855C>G	c.(853-855)atC>atG	p.I285M	ACRBP_ENST00000414226.2_Missense_Mutation_p.I252M|ACRBP_ENST00000536350.1_Missense_Mutation_p.I285M	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	285						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TGAGCTCCTGGATGTTCTCCA	0.438000													9	58					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154270961	154270961	+	Missense_Mutation	SNP	G	G	C	rs145603479	by1000genomes	TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr5:154270961G>C	ENST00000285873.7	-	26	4177	c.4102C>G	c.(4102-4104)Caa>Gaa	p.Q1368E		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1368					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGTGAGTTTTGGAGACTGGCA	0.453000													8	88					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478752	14478752	+	RNA	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr18:14478752G>T	ENST00000581457.1	-	0	1156					NR_024076.1																						CACTCATACTGTAATGGAAGT	0.348000													5	10					0.014758	0.0150592	1	1	0
C2CD2	25966	broad.mit.edu	37	21	43309401	43309401	+	Silent	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr21:43309401C>T	ENST00000380486.3	-	14	2164	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q	C2CD2_ENST00000329623.7_Silent_p.Q486Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	641						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTGGGTCTTTCTGTTGATGCC	0.562000													4	31					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57474971	57474971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:57474971G>T	ENST00000374900.4	+	10	1363	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	415						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GGCTTTGTTGGAAGAAAAGCT	0.343000										HNSCC(52;0.14)			7	40					2.0095e-06	2.20824e-06	1	1	0
MTSS1	9788	broad.mit.edu	37	8	125565241	125565241	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:125565241A>C	ENST00000518547.1	-	14	2733	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	MTSS1_ENST00000524090.1_Missense_Mutation_p.F644V|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000431961.2_Missense_Mutation_p.F472V|MTSS1_ENST00000395508.2_Missense_Mutation_p.F528V|MTSS1_ENST00000378017.3_Missense_Mutation_p.F729V|MTSS1_ENST00000354184.4_Missense_Mutation_p.F472V|MTSS1_ENST00000325064.5_Missense_Mutation_p.F758V|NDUFB9_ENST00000522532.1_Intron	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	754					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTAAGAAAAGCGAGGGGCT	0.453000													12	61					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584716	138584716	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr6:138584716C>T	ENST00000251691.4	+	12	2262	c.2096C>T	c.(2095-2097)gCt>gTt	p.A699V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	699	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGGACACCGCTCTGCAGAAC	0.507000													14	62					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105882883	105882883	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:105882883C>T	ENST00000372548.4	+	9	1809	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	567										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CATAGCAGTGCGACTGAAAGT	0.418000													15	54					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622601	108622601	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:108622601G>A	ENST00000264047.2	+	7	1114	c.838G>A	c.(838-840)Ggg>Agg	p.G280R	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G175R|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G280R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	280					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGCAGCTTTCGGGTGCCTGGT	0.522000													15	47					0	0	1	0	0
GPR173	54328	broad.mit.edu	37	X	53105971	53105971	+	Silent	SNP	T	T	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:53105971T>A	ENST00000332582.4	+	2	659	c.168T>A	c.(166-168)gcT>gcA	p.A56A		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	56						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						TGCACAAGGCTCCTTACTACT	0.592000													34	33					0	0	1	0	0
HSPE1	3336	broad.mit.edu	37	2	198367787	198367787	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:198367787G>A	ENST00000233893.5	+	3	636	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409729.1_Missense_Mutation_p.V10M|HSPE1_ENST00000409468.1_Missense_Mutation_p.V65M|HSPE1_ENST00000465573.1_3'UTR	NM_002157.2	NP_002148.1			heat shock 10kDa protein 1											lung(1)	1			Epithelial(96;0.225)			ACCAGTTAGCGTGAAAGTTGG	0.348000													3	54					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594394	123594394	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:123594394C>T	ENST00000340011.5	+	3	1127	c.770C>T	c.(769-771)aCt>aTt	p.T257I	SPAM1_ENST00000439500.1_Missense_Mutation_p.T257I|SPAM1_ENST00000223028.7_Missense_Mutation_p.T257I|SPAM1_ENST00000460182.1_Missense_Mutation_p.T257I|SPAM1_ENST00000402183.2_Missense_Mutation_p.T257I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	257					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATGAAAGCACTGCTCTTTAC	0.413000													23	43					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36464524	36464524	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr6:36464524C>T	ENST00000229812.7	-	13	1516	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	411	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAACTCATCGAAGTTTGAG	0.383000													3	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9011326	9011326	+	Silent	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:9011326G>A	ENST00000397910.4	-	36	39110	c.38907C>T	c.(38905-38907)gtC>gtT	p.V12969V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12971	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCACCATTGACATAGAGAC	0.537000													17	163					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056383	48056383	+	Silent	SNP	T	T	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr15:48056383T>C	ENST00000316364.5	+	11	1417	c.978T>C	c.(976-978)tcT>tcC	p.S326S	SEMA6D_ENST00000358066.4_Silent_p.S326S|SEMA6D_ENST00000389428.3_Silent_p.S326S|SEMA6D_ENST00000354744.4_Silent_p.S326S|SEMA6D_ENST00000355997.3_Silent_p.S326S|SEMA6D_ENST00000558014.1_Silent_p.S326S|SEMA6D_ENST00000389425.3_Silent_p.S326S|SEMA6D_ENST00000537942.1_Silent_p.S326S|SEMA6D_ENST00000389432.2_Silent_p.S326S|SEMA6D_ENST00000389433.2_Silent_p.S326S|SEMA6D_ENST00000558816.1_Silent_p.S326S|SEMA6D_ENST00000536845.2_Silent_p.S326S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	326	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCCTGGTTCTGCTGTCTGTG	0.448000													23	44					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42262781	42262781	+	Silent	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:42262781G>A	ENST00000395925.3	-	2	156	c.72C>T	c.(70-72)tcC>tcT	p.S24S	GLI3_ENST00000437480.1_Silent_p.S24S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	24					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGTTCGAGTGGAGCACTTCA	0.502000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				44	89					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34655489	34655489	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr21:34655489G>T	ENST00000290200.2	+	5	697	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	AP000295.9_ENST00000433395.2_Silent_p.L324L	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GTTTCTTCCTGATCGGAACAA	0.478000													15	23					1.52009e-12	1.70797e-12	1	1	0
FAAH2	158584	broad.mit.edu	37	X	57337038	57337038	+	Silent	SNP	G	G	A	rs56161888	byFrequency	TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:57337038G>A	ENST00000374900.4	+	3	408	c.288G>A	c.(286-288)gcG>gcA	p.A96A		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	96						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTGAGGAAGCGATGAAGGAGG	0.388000										HNSCC(52;0.14)			15	22					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297542	62297542	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:62297542C>G	ENST00000378024.4	-	5	4621	c.4347G>C	c.(4345-4347)caG>caC	p.Q1449H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1449					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGATATCTTCTGAGGCTTTA	0.378000													23	162					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261985	151261985	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:151261985C>T	ENST00000368879.2	+	5	2701	c.2603C>T	c.(2602-2604)gCc>gTc	p.A868V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCTCTTTGCCCAAAAAAGG	0.547000													23	53					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543330	23543330	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:23543330C>G	ENST00000300619.7	-	4	2656	c.2451G>C	c.(2449-2451)aaG>aaC	p.K817N	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K785N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	817						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAATTGTCTTATGCTTAG	0.408000													9	47					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165987867	165987867	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr2:165987867A>G	ENST00000360093.3	-	16	2943	c.2452T>C	c.(2452-2454)Tac>Cac	p.Y818H	SCN3A_ENST00000409101.3_Missense_Mutation_p.Y769H|SCN3A_ENST00000283254.7_Missense_Mutation_p.Y818H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	818						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGGAAATAGTAATAAGGATCC	0.398000													14	55					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139988	34139988	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:34139988G>A	ENST00000257829.3	+	8	924	c.718G>A	c.(718-720)Gag>Aag	p.E240K	NAT10_ENST00000531159.2_Missense_Mutation_p.E168K|NAT10_ENST00000527971.1_Missense_Mutation_p.E240K	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	240						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGAGTTGAAGGAGAGCTTGCA	0.532000													12	22					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52115463	52115463	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:52115463C>T	ENST00000354534.5	+	12	1947	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M	SCN8A_ENST00000550891.1_Missense_Mutation_p.T590M|SCN8A_ENST00000545061.1_Missense_Mutation_p.T590M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	590					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GAGCACAGCACGGTGGAGGAG	0.672000													3	11					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89846074	89846074	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:89846074T>G	ENST00000370456.4	+	6	848	c.755T>G	c.(754-756)gTg>gGg	p.V252G	GBP6_ENST00000535065.1_Missense_Mutation_p.V122G	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	252							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTGAGAAGGTGTCAGAAAAG	0.443000													8	24					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486124	41486124	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:41486124G>A	ENST00000359345.1	-	1	2785	c.209C>T	c.(208-210)aCc>aTc	p.T70I	SLFNL1_ENST00000439569.2_Missense_Mutation_p.T70I|SLFNL1_ENST00000397197.2_Missense_Mutation_p.T70I|SLFNL1_ENST00000372611.1_Missense_Mutation_p.T70I|SLFNL1_ENST00000372613.2_Missense_Mutation_p.T70I|SLFNL1_ENST00000302946.8_Missense_Mutation_p.T70I	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	70							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCGCTCCAGGGTGTCTCGCAG	0.647000													46	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(24)|p.0?(8)|p.I332fs*49(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)		AGACTTAGTACCTGAAGGGTG	0.458000		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)			21	25					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297509	62297509	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:62297509C>G	ENST00000378024.4	-	5	4654	c.4380G>C	c.(4378-4380)ttG>ttC	p.L1460F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1460					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAGGACCTTTCAAATGCAAAC	0.383000													20	140					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGAGCCCCCAGAAGAGCCACA	0.677000													6	221					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87051439	87051439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr7:87051439G>A	ENST00000265723.4	-	18	2425	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	ABCB4_ENST00000358400.3_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.Q772*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.Q772*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	772	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTACCTACCTGAAGGAAGAAA	0.323000													5	14					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48672857	48672857	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:48672857T>G	ENST00000334136.5	+	11	995	c.817T>G	c.(817-819)Ttc>Gtc	p.F273V	HDAC6_ENST00000413163.2_Missense_Mutation_p.F218V|HDAC6_ENST00000376619.2_Missense_Mutation_p.F273V|HDAC6_ENST00000444343.2_Missense_Mutation_p.F287V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	273	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGTCCTCTATTTCTCCATCCA	0.532000													48	69					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78742906	78742906	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr5:78742906C>G	ENST00000334082.6	-	4	1799	c.357G>C	c.(355-357)gaG>gaC	p.E119D	HOMER1_ENST00000508576.1_Missense_Mutation_p.E119D|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	119					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GTTCCATCTTCTCTTGTGATT	0.333000													9	21					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820730	55820730	+	Silent	SNP	A	A	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:55820730A>G	ENST00000328314.3	+	1	693	c.693A>G	c.(691-693)agA>agG	p.R231R		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CACAGCAAAGAAAAAAAGCCT	0.373000													3	23					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844786	47844786	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:47844786G>A	ENST00000595464.1	+	2	948	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	C5AR2_ENST00000257267.2_Missense_Mutation_p.V244I|C5AR2_ENST00000600626.1_Missense_Mutation_p.V244I	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		GGGGTTTTTTGTCTGCTGGGC	0.706000													16	44					0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1840696	1840696	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr16:1840696C>T	ENST00000415638.3	-	2	1916	c.1837G>A	c.(1837-1839)Gcg>Acg	p.A613T	IGFALS_ENST00000215539.3_Missense_Mutation_p.A575T	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	575					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TAGGTGTACGCGGGCGGCTGG	0.677000													3	16					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039136	5039136	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:5039136A>G	ENST00000574788.1	+	17	2807	c.577A>G	c.(577-579)Acc>Gcc	p.T193A	USP6_ENST00000250066.6_Missense_Mutation_p.T193A|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.T193A			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	193	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAGCCACATCACCGCCTTGTT	0.607000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								6	94					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561228	9561228	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr20:9561228A>G	ENST00000378429.3	-	5	1100	c.554T>C	c.(553-555)gTg>gCg	p.V185A	PAK7_ENST00000378423.1_Missense_Mutation_p.V185A|PAK7_ENST00000353224.5_Missense_Mutation_p.V185A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	185	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAAAGGCTTCACCTCAGAATA	0.463000													35	93					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947222	237947222	+	Silent	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:237947222G>A	ENST00000366574.2	+	90	12527	c.12210G>A	c.(12208-12210)gcG>gcA	p.A4070A	RYR2_ENST00000360064.6_Silent_p.A4076A|RYR2_ENST00000542537.1_Silent_p.A4054A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4070					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	p.A4068A(1)		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)			TGTCTTGTGCGGAGACGGATG	0.512000													4	21					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109550386	109550386	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr13:109550386T>A	ENST00000356711.2	+	15	1742	c.1616T>A	c.(1615-1617)tTt>tAt	p.F539Y	MYO16_ENST00000457511.2_Missense_Mutation_p.F51Y|MYO16_ENST00000357550.2_Missense_Mutation_p.F539Y|MYO16_ENST00000251041.5_Missense_Mutation_p.F539Y	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	539	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTAGAAGCCTTTGGACATGCC	0.408000													19	23					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21196320	21196320	+	Silent	SNP	T	T	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr12:21196320T>C	ENST00000381541.3	+	7	845	c.780T>C	c.(778-780)ctT>ctC	p.L260L	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.L260L|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.L213L																							CTTGGTGGCTTGGTTTCCTTG	0.363000													32	54					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297817	62297817	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:62297817C>G	ENST00000378024.4	-	5	4346	c.4072G>C	c.(4072-4074)Gac>Cac	p.D1358H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1358					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTAATGTCAACATCTGGC	0.478000													30	195					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53848876	53848876	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr19:53848876G>A	ENST00000458035.1	+	3	250	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	ZNF845_ENST00000595091.1_Missense_Mutation_p.V45I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAGGAACCTGGTCTCCCTGGG	0.473000													27	104					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12952314	12952314	+	Silent	SNP	T	T	A			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:12952314T>A	ENST00000276297.4	-	12	3889	c.3480A>T	c.(3478-3480)ccA>ccT	p.P1160P	DLC1_ENST00000520226.1_Silent_p.P649P|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.P723P|DLC1_ENST00000512044.2_Silent_p.P757P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1160	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCGTCATTAGTGGCTCAGGAA	0.438000													5	26					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118347648	118347648	+	Silent	SNP	C	C	T			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr11:118347648C>T	ENST00000534358.1	+	4	3308	c.3285C>T	c.(3283-3285)gcC>gcT	p.A1095A	KMT2A_ENST00000389506.5_Silent_p.A1095A|KMT2A_ENST00000354520.4_Silent_p.A1095A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCCTGAGTGCCTTACCATGGG	0.488000													9	51					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507481	74507481	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr1:74507481delA	ENST00000354431.4	-	7	1325	c.1134delT	c.(1132-1134)ttfs	p.F378fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Del_p.F378fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	378								p.P379fs*26(1)		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						GATATGCAGGAAAAAAATGTT	0.348													12	65	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													2	4	---	---	---	---					
TRAPPC9	83696	broad.mit.edu	37	8	141468516	141468517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr8:141468516_141468517insC	ENST00000389328.4	-	1	161_162	c.147_148insG	c.(145-150)ggacgafs	p.R50fs		NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	0					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCACGGTCGTGCCCCCCACGTG	0.743													2	4	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465992	59465992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr17:59465992delA	ENST00000589222.1	+	25	2741	c.2673delA	c.(2671-2673)ggfs	p.G891fs	BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000585744.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AAAAAAAAGGAAAAAAAAAAC	0.428													2	4	---	---	---	---					
ZNF217	7764	broad.mit.edu	37	20	52198810	52198810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr20:52198810delT	ENST00000371471.2	-	2	981	c.556delA	c.(556-558)gcfs	p.S186fs	ZNF217_ENST00000302342.3_Frame_Shift_Del_p.S186fs			O75362	ZN217_HUMAN	zinc finger protein 217	186					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCAGTTTGCTTCTGGCCCCC	0.498													29	169	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													4	9	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70348273	70348275	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CQ-7067-01A-11D-2229-08	TCGA-CQ-7067-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01f46aa2-e15b-4544-add5-c783868b6c26	e7f351e2-843e-4cb0-9f5e-50aaae26394c	g.chrX:70348273_70348275delCTC	ENST00000333646.6	+	23	3536_3538	c.3337_3339delCTC	c.(3337-3339)del	p.L1114del	MED12_ENST00000374102.1_In_Frame_Del_p.L1114del|MED12_ENST00000374080.3_In_Frame_Del_p.L1114del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1114					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTTCAACGATCTCCTCTGCAATG	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						25	105	---	---	---	---					
