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
ENAM	10117	broad.mit.edu	37	4	71500038	71500038	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:71500038G>A	ENST00000396073.3	+	6	505	c.224G>A	c.(223-225)gGg>gAg	p.G75E		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	75					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GCACACCTGGGGCCCTTCTTT	0.493000													26	190					0	0	0.001512	0	0
OR10H2	26538	broad.mit.edu	37	19	15839066	15839066	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:15839066C>T	ENST00000305899.3	+	1	233	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTCCGAGATCCTCTACACCG	0.632000													6	52					0	0	0.00116845	0	0
KDM4B	23030	broad.mit.edu	37	19	5133943	5133943	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:5133943G>A	ENST00000159111.4	+	14	2174	c.1956G>A	c.(1954-1956)ttG>ttA	p.L652L	KDM4B_ENST00000536461.1_Silent_p.L686L	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	652					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGACGCCTTGAGGCCGCTGC	0.617000													6	48					0	0	0.00116845	0	0
KRT34	3885	broad.mit.edu	37	17	39538268	39538268	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39538268C>T	ENST00000394001.1	-	1	387	c.357G>A	c.(355-357)ctG>ctA	p.L119L		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	119	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGTCCCGCTCCAGCTGACGCA	0.597000													12	80					0	0	0.000978159	0	0
CHERP	10523	broad.mit.edu	37	19	16638916	16638916	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:16638916G>A	ENST00000546361.2	-	9	1431	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	CHERP_ENST00000198939.6_Missense_Mutation_p.P438L|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	427	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGGAGCCACGGGGTGAGGCTG	0.662000													10	40					0	0	0.000978159	0	0
CSMD2	114784	broad.mit.edu	37	1	34158608	34158608	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:34158608G>A	ENST00000373381.4	-	25	4150	c.3974C>T	c.(3973-3975)tCa>tTa	p.S1325L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S198L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1285	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATACCCGGGTGACAGCACCTG	0.572000													23	117					0	0	0.000295444	0	0
CNNM4	26504	broad.mit.edu	37	2	97464925	97464925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:97464925C>T	ENST00000377075.2	+	4	1911	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	CNNM4_ENST00000540067.1_Nonsense_Mutation_p.R92*|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	605					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCTGTACACCCGAAATAAGCC	0.577000													6	63					0	0	0.000673444	0	0
KRT6C	286887	broad.mit.edu	37	12	52863467	52863467	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:52863467C>T	ENST00000252250.6	-	7	1458	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	471	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACTCCTCGCCCTCCAGCAGC	0.577000													7	54					0	0	0.000274275	0	0
SLC51A	200931	broad.mit.edu	37	3	195955680	195955680	+	Splice_Site	SNP	G	G	A	rs146316634	byFrequency	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:195955680G>A	ENST00000296327.5	+	6	731	c.521_splice	c.e6-1	p.R174_splice		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		CCCCACTCAGGAAGAAGCTTC	0.607000													6	80					0	0	8.12818e-05	0	0
ST5	6764	broad.mit.edu	37	11	8747751	8747751	+	Missense_Mutation	SNP	G	G	A	rs141549433		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:8747751G>A	ENST00000534127.1	-	7	1731	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	ST5_ENST00000530438.1_Missense_Mutation_p.S29F|ST5_ENST00000357665.1_Missense_Mutation_p.S449F|ST5_ENST00000313726.6_Missense_Mutation_p.S449F|ST5_ENST00000526757.1_Missense_Mutation_p.S29F	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	449					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAACTCAAAGGATTTTCTGTG	0.488000													17	52					0	0	0.000958276	0	0
ZNF226	7769	broad.mit.edu	37	19	44680983	44680983	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:44680983T>G	ENST00000590089.1	+	7	1935	c.1568T>G	c.(1567-1569)gTg>gGg	p.V523G	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.V523G|ZNF226_ENST00000454662.2_Missense_Mutation_p.V523G			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GTTCATCTAGTGGTCCACACA	0.453000													10	36					0	0	0.000442599	0	0
FLRT3	23767	broad.mit.edu	37	20	14306599	14306599	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:14306599C>T	ENST00000378053.3	-	2	1810	c.1554G>A	c.(1552-1554)gaG>gaA	p.E518E	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.E518E|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	518					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AAGGTTCTTTCTCTTGCTCTC	0.463000													20	52					0	0	0.00152264	0	0
SYT14	255928	broad.mit.edu	37	1	210273574	210273574	+	Missense_Mutation	SNP	G	G	A	rs140554266		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:210273574G>A	ENST00000537238.1	+	7	1209	c.818G>A	c.(817-819)aGa>aAa	p.R273K	SYT14_ENST00000472886.1_Missense_Mutation_p.R311K|SYT14_ENST00000534859.1_Missense_Mutation_p.R311K|SYT14_ENST00000367019.1_Missense_Mutation_p.R311K|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000367015.1_Missense_Mutation_p.R273K|SYT14_ENST00000399639.2_Missense_Mutation_p.R311K|SYT14_ENST00000422431.1_Missense_Mutation_p.R356K	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	311						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGAAACAGAGAGCAAAAACC	0.418000													6	21					0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179449972	179449972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:179449972C>T	ENST00000589042.1	-	309	64723	c.64499G>A	c.(64498-64500)tGg>tAg	p.W21500*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W12560*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W18932*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W12435*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W12627*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W19859*|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19859	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTTTTCCATTTACAGGT	0.428000													19	133					0	0	0.00074312	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375794	93375794	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:93375794C>T	ENST00000375765.3	-	2	704	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	106					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CCTTTGATCTCGCAGATTTGT	0.592000													8	84					0	0	0.000274275	0	0
SEC16A	9919	broad.mit.edu	37	9	139357390	139357390	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:139357390G>A	ENST00000313050.7	-	10	4915	c.4842C>T	c.(4840-4842)ctC>ctT	p.L1614L	SEC16A_ENST00000371706.3_Silent_p.L1436L|SEC16A_ENST00000290037.6_Silent_p.L1436L|SEC16A_ENST00000431893.2_Silent_p.L1436L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1436					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCTCTCTCTCGAGCGAGCTGG	0.612000													5	48					0	0	8.12818e-05	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981800	61981800	+	Silent	SNP	G	G	A	rs121912261		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:61981800G>A	ENST00000370263.4	-	5	1184	c.963C>T	c.(961-963)atC>atT	p.I321I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	321					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I321I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCGTGATGACGATGGACAGGG	0.607000													18	44					0	0	0.000566183	0	0
FUT8	2530	broad.mit.edu	37	14	66208871	66208871	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:66208871C>T	ENST00000360689.5	+	11	3198	c.1471C>T	c.(1471-1473)Cat>Tat	p.H491Y	FUT8_ENST00000394586.2_Missense_Mutation_p.H491Y|FUT8_ENST00000394585.1_Missense_Mutation_p.H491Y|FUT8_ENST00000417683.1_Missense_Mutation_p.H85Y|FUT8_ENST00000358307.2_Missense_Mutation_p.H362Y|FUT8_ENST00000557164.1_Missense_Mutation_p.H328Y	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	491					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCAAACTTCCATTCTTTAGA	0.388000													13	49					0	0	0.000219431	0	0
ZNF534	147658	broad.mit.edu	37	19	52941472	52941472	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:52941472G>A	ENST00000332323.6	+	4	859	c.798G>A	c.(796-798)caG>caA	p.Q266Q	ZNF534_ENST00000433050.1_Silent_p.Q253Q|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTCAATCAGAATTCACACC	0.383000													5	39					0	0	0.000602214	0	0
NWD1	284434	broad.mit.edu	37	19	16910778	16910778	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:16910778G>A	ENST00000524140.2	+	17	3959	c.3541G>A	c.(3541-3543)Ggg>Agg	p.G1181R	NWD1_ENST00000523826.1_Missense_Mutation_p.G975R|NWD1_ENST00000379808.3_Missense_Mutation_p.G1181R|NWD1_ENST00000339803.6_Missense_Mutation_p.G1046R|NWD1_ENST00000552788.1_Missense_Mutation_p.G1181R|NWD1_ENST00000549814.1_Intron	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1181							ATP binding	p.G1046R(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGCCCGCGGCGGGGCTTTGGT	0.622000													4	45					0	0	0.00116845	0	0
KIAA0195	9772	broad.mit.edu	37	17	73488710	73488710	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:73488710C>T	ENST00000314256.7	+	15	2146	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	KIAA0195_ENST00000375248.5_Silent_p.P594P|KIAA0195_ENST00000579208.1_Silent_p.P235P	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	584					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCAAACCCCTGGGCCTCA	0.607000													5	48					0	0	0.000602214	0	0
HESX1	8820	broad.mit.edu	37	3	57233911	57233911	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:57233911C>T	ENST00000295934.3	-	1	72	c.36G>A	c.(34-36)ggG>ggA	p.G12G	HESX1_ENST00000473921.1_Silent_p.G12G	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	12						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GTTTGTTTTCCCCGAGCTGAG	0.542000													6	105					0	0	0.00116845	0	0
RYR1	6261	broad.mit.edu	37	19	38951099	38951099	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:38951099C>T	ENST00000355481.4	+	20	2576	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	RYR1_ENST00000360985.3_Silent_p.L815L|RYR1_ENST00000359596.3_Silent_p.L815L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	815					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCTGTGCTCCCTCGAGAGC	0.637000													14	77					0	0	0.000219431	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481679	27481679	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:27481679C>T	ENST00000233535.4	-	2	571	c.219G>A	c.(217-219)cgG>cgA	p.R73R	SLC30A3_ENST00000447008.2_Silent_p.R68R	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	73					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGCTGCCTCCGTGCATGCA	0.607000													11	50					0	0	0.000978159	0	0
KRT16	3868	broad.mit.edu	37	17	39768659	39768659	+	Silent	SNP	G	G	A	rs150457351		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39768659G>A	ENST00000301653.4	-	1	346	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	94	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				agccaccaccgaagccagcac	0.627000													7	21					0	0	0.000157383	0	0
MUC17	140453	broad.mit.edu	37	7	100681536	100681536	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:100681536C>T	ENST00000306151.4	+	3	6903	c.6839C>T	c.(6838-6840)cCa>cTa	p.P2280L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2280	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACGACTCCATTAACAAGT	0.473000													72	154					0	0	0.000781405	0	0
TRANK1	9881	broad.mit.edu	37	3	36872539	36872539	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:36872539C>T	ENST00000301807.6	-	21	8650	c.6753G>A	c.(6751-6753)gtG>gtA	p.V2251V	TRANK1_ENST00000428977.2_Silent_p.V2251V|TRANK1_ENST00000429976.2_Silent_p.V2801V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2801					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGGCCGGGTCCACCTTCTCGT	0.532000													8	150					0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13841135	13841135	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:13841135G>A	ENST00000265104.4	-	34	5693	c.5589C>T	c.(5587-5589)ttC>ttT	p.F1863F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1863	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					GTAGCTCCAGGAAAGCCTGAT	0.403000									Kartagener syndrome				9	44					0	0	0.000274275	0	0
BNC1	646	broad.mit.edu	37	15	83932596	83932596	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:83932596G>A	ENST00000345382.2	-	4	1492	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.F462F	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	469					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAATGTTTGGGAAGGCTGGTT	0.547000													15	43					0	0	0.000219431	0	0
MGST2	4258	broad.mit.edu	37	4	140625252	140625252	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:140625252G>A	ENST00000265498.1	+	5	646	c.394G>A	c.(394-396)Gat>Aat	p.D132N	MGST2_ENST00000506797.1_3'UTR|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	132					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)	CAGCTTTCTGGATGAATATCT	0.478000													6	82					0	0	8.12818e-05	0	0
BMP1	649	broad.mit.edu	37	8	22066984	22066984	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:22066984G>A	ENST00000306385.5	+	19	3272	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	868	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACGGGCAGACGTGAAGACCAA	0.632000													10	62					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9072414	9072414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:9072414G>A	ENST00000397910.4	-	3	15235	c.15032C>T	c.(15031-15033)tCa>tTa	p.S5011L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5013	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						ATCCAATTGTGAAAATCCATG	0.483000													5	38					0	0	0.000602214	0	0
FARP1	10160	broad.mit.edu	37	13	99042345	99042345	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:99042345C>T	ENST00000376586.2	+	10	1326	c.990C>T	c.(988-990)ctC>ctT	p.L330L	FARP1_ENST00000319562.6_Silent_p.L330L|FARP1_ENST00000595437.1_Silent_p.L330L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	330					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGCCCGTCCTCTTTAGCCGGG	0.522000													13	115					0	0	0.000566183	0	0
CYLC2	1539	broad.mit.edu	37	9	105767288	105767288	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:105767288G>A	ENST00000374798.3	+	5	445	c.375G>A	c.(373-375)aaG>aaA	p.K125K	CYLC2_ENST00000487798.1_Silent_p.K125K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	125	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAACACAGAAGGACACAACAG	0.308000													11	48					0	0	0.00136819	0	0
SLC26A5	375611	broad.mit.edu	37	7	103053510	103053510	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:103053510G>A	ENST00000306312.3	-	5	603	c.342C>T	c.(340-342)taC>taT	p.Y114Y	SLC26A5_ENST00000393727.1_Silent_p.Y114Y|SLC26A5_ENST00000393723.1_Silent_p.Y114Y|SLC26A5_ENST00000356767.4_Silent_p.Y114Y|SLC26A5_ENST00000393729.1_Intron|SLC26A5_ENST00000393735.2_Silent_p.Y114Y|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Silent_p.Y114Y|SLC26A5_ENST00000432958.2_Silent_p.Y114Y|SLC26A5_ENST00000339444.6_Silent_p.Y114Y	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	114					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAAATGAAGAGTACAGGCCAA	0.398000													6	45					0	0	8.12818e-05	0	0
CERS3	204219	broad.mit.edu	37	15	101009590	101009590	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:101009590G>A	ENST00000284382.4	-	11	1261	c.838C>T	c.(838-840)Cct>Tct	p.P280S	CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.P280S|CERS3_ENST00000394113.1_Missense_Mutation_p.P280S	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	280	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.P280S(2)									CACCAGAAAGGAAAAACAATG	0.493000													9	61					0	0	0.000673444	0	0
UNC79	57578	broad.mit.edu	37	14	94160732	94160732	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:94160732G>A	ENST00000553484.1	+	49	7859	c.7705G>A	c.(7705-7707)Gaa>Aaa	p.E2569K	UNC79_ENST00000555664.1_Missense_Mutation_p.E2508K|UNC79_ENST00000393151.2_Missense_Mutation_p.E2547K|UNC79_ENST00000256339.4_Missense_Mutation_p.E2370K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2547						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCATTGCAGGAATGCAATTC	0.338000													5	47					0	0	8.12818e-05	0	0
TRIM55	84675	broad.mit.edu	37	8	67062108	67062108	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:67062108C>T	ENST00000315962.4	+	5	1205	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	TRIM55_ENST00000276573.7_Silent_p.L278L|TRIM55_ENST00000353317.5_Silent_p.L278L|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	278	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GGCAGTGTTTCTGCAGGTAAG	0.368000													12	46					0	0	0.000978159	0	0
GZMA	3001	broad.mit.edu	37	5	54404140	54404140	+	Missense_Mutation	SNP	G	G	A	rs142064253		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:54404140G>A	ENST00000274306.6	+	4	580	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	182	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGCAATGATCGAAATCACTAT	0.428000													15	40					0	0	0.000308642	0	0
OR51T1	401665	broad.mit.edu	37	11	4903473	4903473	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:4903473C>T	ENST00000380378.1	+	1	425	c.425C>T	c.(424-426)tCg>tTg	p.S142L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.S115L	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGAGTCCTCGGTGCTGGTA	0.502000													16	63					0	0	0.00074312	0	0
AZI2	64343	broad.mit.edu	37	3	28382035	28382035	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:28382035G>A	ENST00000479665.1	-	2	605	c.74C>T	c.(73-75)cCa>cTa	p.P25L	AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000420543.2_Missense_Mutation_p.P25L|AZI2_ENST00000457172.1_Missense_Mutation_p.P25L|AZI2_ENST00000334100.6_Missense_Mutation_p.P25L	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	25						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TATTGAAACTGGAGTCACTGT	0.348000													21	51					0	0	0.00188189	0	0
CELSR3	1951	broad.mit.edu	37	3	48691120	48691120	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:48691120G>A	ENST00000544264.1	-	9	5660	c.5380C>T	c.(5380-5382)Cgg>Tgg	p.R1794W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1794W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1794	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCCGTGTCCGAAATGCCAGC	0.602000													13	41					0	0	0.00136819	0	0
SMARCD1	6602	broad.mit.edu	37	12	50492783	50492783	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:50492783G>A	ENST00000394963.4	+	13	1946	c.1548G>A	c.(1546-1548)taG>taA	p.*516*	SMARCD1_ENST00000381513.4_Silent_p.*475*|SMARCD1_ENST00000548573.1_Silent_p.*314*	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	0					chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GGAATACATAGGGCCTCTCCC	0.517000													6	44					0	0	0.00116845	0	0
TRAK1	22906	broad.mit.edu	37	3	42264731	42264731	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:42264731G>A	ENST00000327628.5	+	16	2764	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	TRAK1_ENST00000396175.1_Silent_p.Q730Q|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	788					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CGCCTATGCAGACACCCACAT	0.627000													4	25					0	0	0.000602214	0	0
PSG7	5676	broad.mit.edu	37	19	43430058	43430058	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:43430058C>T	ENST00000406070.2	-	0	1206				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.458000													20	148					0	0	0.00188189	0	0
OR13C3	138803	broad.mit.edu	37	9	107298289	107298289	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:107298289G>A	ENST00000374781.2	-	1	848	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGAGCACGTGGAAAATGCCTT	0.428000													10	64					0	0	0.00136819	0	0
GALNT13	114805	broad.mit.edu	37	2	155295135	155295135	+	Missense_Mutation	SNP	G	G	A	rs148805770		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:155295135G>A	ENST00000392825.3	+	12	1994	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_Missense_Mutation_p.R476Q|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	476	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R476Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAAGAAATCCGAACCGATGAC	0.338000													12	63					0	0	0.00136819	0	0
XIRP2	129446	broad.mit.edu	37	2	168105894	168105894	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:168105894G>A	ENST00000409195.1	+	9	8081	c.7992G>A	c.(7990-7992)agG>agA	p.R2664R	XIRP2_ENST00000409273.1_Silent_p.R2442R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.R2664R|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2489					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGCTCAAGGGACATTATGC	0.408000													6	32					0	0	0.00116845	0	0
FSIP2	401024	broad.mit.edu	37	2	186670793	186670793	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:186670793C>T	ENST00000343098.5	+	17	17027	c.17027C>T	c.(17026-17028)tCa>tTa	p.S5676L	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5587L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACACATTTTTCATTAATAATT	0.274000													9	68					0	0	0.000442599	0	0
CES3	23491	broad.mit.edu	37	16	67000146	67000146	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:67000146G>A	ENST00000303334.4	+	7	890		c.e7-1		CES3_ENST00000394037.1_Splice_Site	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3							endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TTTGTCCCCAGAAAATCGCAA	0.567000													5	35					0	0	0.000602214	0	0
FLNC	2318	broad.mit.edu	37	7	128494537	128494537	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:128494537C>T	ENST00000325888.8	+	41	7059	c.6798C>T	c.(6796-6798)atC>atT	p.I2266I	FLNC_ENST00000346177.6_Silent_p.I2233I|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2266					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCGCAGAGATCGTCGAGGGCG	0.642000													4	10					0	0	0.000602214	0	0
PCDH18	54510	broad.mit.edu	37	4	138452734	138452734	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:138452734G>A	ENST00000344876.4	-	1	895	c.509C>T	c.(508-510)tCc>tTc	p.S170F	PCDH18_ENST00000412923.2_Missense_Mutation_p.S170F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	170	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTGTGGAGGGAATTTTCCCC	0.458000													5	33					0	0	0.000602214	0	0
ZNF106	64397	broad.mit.edu	37	15	42743200	42743200	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:42743200G>A	ENST00000263805.4	-	2	1527	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTCTGTGTTGGGGAATTACGT	0.428000													21	163					0	0	0.000375601	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505115	47505115	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:47505115C>T	ENST00000371901.3	+	8	1234	c.984C>T	c.(982-984)atC>atT	p.I328I	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Silent_p.I327I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	328						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCCTGGATCCTTTACTGCC	0.517000													16	34					0	0	0.000958276	0	0
MOGAT2	80168	broad.mit.edu	37	11	75442221	75442221	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:75442221G>A	ENST00000526712.1	+	5	1422	c.649G>A	c.(649-651)Gag>Aag	p.E217K	MOGAT2_ENST00000198801.5_Missense_Mutation_p.E299K			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	299					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCCCTCGGAGGAGGAGGTGAA	0.567000													10	48					0	0	0.00185496	0	0
CCDC129	223075	broad.mit.edu	37	7	31617900	31617900	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:31617900C>T	ENST00000409210.1	+	6	930	c.746C>T	c.(745-747)tCt>tTt	p.S249F	CCDC129_ENST00000451887.2_Missense_Mutation_p.S367F|CCDC129_ENST00000407970.3_Missense_Mutation_p.S341F|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	341										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCTTGCTCATCTATGCCGGCC	0.498000													6	48					0	0	0.00116845	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900267	34900267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:34900267C>T	ENST00000246535.3	+	4	585	c.538C>T	c.(538-540)Cct>Tct	p.P180S	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	180						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCCTGTGCCTCCTGGGCTGCC	0.577000													9	71					0	0	0.000442599	0	0
FBXO43	286151	broad.mit.edu	37	8	101153270	101153270	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:101153270G>A	ENST00000428847.2	-	2	1528	c.1212C>T	c.(1210-1212)caC>caT	p.H404H		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	404					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGAGTCAGGGTGGACAATCT	0.468000													20	134					0	0	0.000295444	0	0
MUC16	94025	broad.mit.edu	37	19	9068151	9068151	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:9068151G>A	ENST00000397910.4	-	3	19498	c.19295C>T	c.(19294-19296)tCt>tTt	p.S6432F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6434	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						AGCAAAAGTAGAAAGCATGGT	0.507000													13	93					0	0	0.00136819	0	0
KRT76	51350	broad.mit.edu	37	12	53165685	53165685	+	Silent	SNP	T	T	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:53165685T>A	ENST00000332411.2	-	6	1286	c.1233A>T	c.(1231-1233)ctA>ctT	p.L411L		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	411	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTCAGCCCGTAGCCTCTGGA	0.562000													8	87					0	0	0.000157383	0	0
TRPC4	7223	broad.mit.edu	37	13	38248490	38248490	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:38248490C>T	ENST00000379705.3	-	5	2106	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	TRPC4_ENST00000379673.2_Missense_Mutation_p.E417K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E417K|TRPC4_ENST00000426868.2_Missense_Mutation_p.E417K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E417K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E417K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E244K|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.E244K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E417K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	417					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGTTTAATTTCTCCCCATATG	0.333000													4	41					0	0	0.00024832	0	0
GRM8	2918	broad.mit.edu	37	7	126086222	126086222	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:126086222C>T	ENST00000339582.2	-	10	3443	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S	GRM8_ENST00000444921.2_Missense_Mutation_p.G879S|GRM8_ENST00000358373.3_Missense_Mutation_p.G879S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	879					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTCACCTCGCCATTTGGTCTG	0.448000										HNSCC(24;0.065)			22	70					0	0	0.00188189	0	0
MFSD1	64747	broad.mit.edu	37	3	158523191	158523191	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:158523191C>T	ENST00000415822.2	+	3	545	c.404C>T	c.(403-405)gCc>gTc	p.A135V	MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000264266.8_Missense_Mutation_p.A86V	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	86					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGCTGTATGCCTGGTATTCT	0.338000													35	143					0	0	0.00128727	0	0
INHBB	3625	broad.mit.edu	37	2	121107048	121107048	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:121107048C>T	ENST00000295228.3	+	2	868	c.822C>T	c.(820-822)ccC>ccT	p.P274P		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	274					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CGCACCGGCCCTTTGTGGTGG	0.667000													13	75					0	0	0.00136819	0	0
MYH4	4622	broad.mit.edu	37	17	10364237	10364237	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:10364237C>T	ENST00000255381.2	-	12	1253	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	381	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTACCTTCCGTGCCATCTG	0.483000													9	51					0	0	0.000978159	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916194	9916194	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:9916194G>A	ENST00000396573.2	-	11	2404	c.2095C>T	c.(2095-2097)Ccc>Tcc	p.P699S	GRIN2A_ENST00000404927.2_Missense_Mutation_p.P699S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P699S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P542S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P699S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P699S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	699					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCATGTAGGGATAGTTATTC	0.458000													6	46					0	0	0.00116845	0	0
LRTM2	654429	broad.mit.edu	37	12	1943855	1943855	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:1943855G>A	ENST00000543818.1	+	5	1923	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K	CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Missense_Mutation_p.E361K|LRTM2_ENST00000535041.1_Missense_Mutation_p.E361K	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	361						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGCGAGCACGAGGACCAGAA	0.662000													5	33					0	0	8.12818e-05	0	0
DLGAP2	9228	broad.mit.edu	37	8	1639759	1639759	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:1639759C>T	ENST00000421627.2	+	10	2657	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	920					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCAGAAATTCCAGCAGTTTT	0.408000													7	26					0	0	0.000274275	0	0
FLG2	388698	broad.mit.edu	37	1	152323959	152323959	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:152323959C>T	ENST00000388718.5	-	3	6375	c.6303G>A	c.(6301-6303)agG>agA	p.R2101R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2101							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCAGATCCCCTTCTTCCAG	0.527000													85	223					0	0	0.000781405	0	0
OR52B4	143496	broad.mit.edu	37	11	4388619	4388619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:4388619C>T	ENST00000408920.2	-	1	997	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCACCTGTTCCTGGATTTGC	0.398000													5	24					0	0	0.000602214	0	0
FAT4	79633	broad.mit.edu	37	4	126370478	126370478	+	Missense_Mutation	SNP	T	T	G	rs148344513		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:126370478T>G	ENST00000394329.3	+	9	8320	c.8307T>G	c.(8305-8307)aaT>aaG	p.N2769K	FAT4_ENST00000335110.5_Missense_Mutation_p.N1067K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2769	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAATGATAATGCCCCTAGGT	0.388000													9	75					0	0	0.00136819	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Missense_Mutation	SNP	C	C	T	rs121913384		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:21971096C>T	ENST00000579755.1	-	2	597	c.305G>A	c.(304-306)gGa>gAa	p.G102E	CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E88K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			14	94					0	0	0.000422831	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29883575	29883575	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:29883575G>A	ENST00000308713.5	-	16	3163	c.2636C>T	c.(2635-2637)tCg>tTg	p.S879L	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S778L|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S822L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S848L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	879						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGGGAGCCCGAGAAGCCGAA	0.597000													5	28					0	0	0.000602214	0	0
CCDC62	84660	broad.mit.edu	37	12	123297851	123297851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:123297851C>T	ENST00000253079.6	+	11	2230	c.1886C>T	c.(1885-1887)tCg>tTg	p.S629L	CCDC62_ENST00000392441.4_Missense_Mutation_p.S629L|CCDC62_ENST00000537566.1_Missense_Mutation_p.S390L|CCDC62_ENST00000392440.2_Missense_Mutation_p.S390L	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	629						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GATGATTTCTCGCCCACGAGC	0.493000													14	69					0	0	0.000219431	0	0
ART3	419	broad.mit.edu	37	4	77003022	77003022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:77003022G>A	ENST00000355810.4	+	3	234	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	ART3_ENST00000349321.3_Missense_Mutation_p.E39K|ART3_ENST00000341029.5_Missense_Mutation_p.E39K|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	39					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTTGATGATGAATACCTGAA	0.363000													16	123					0	0	0.000566183	0	0
LARP4	113251	broad.mit.edu	37	12	50860811	50860811	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:50860811C>T	ENST00000398473.2	+	13	1565	c.1453C>T	c.(1453-1455)Cca>Tca	p.P485S	LARP4_ENST00000518444.1_Missense_Mutation_p.P484S|LARP4_ENST00000429001.3_Missense_Mutation_p.P491S|LARP4_ENST00000293618.8_Missense_Mutation_p.P414S|LARP4_ENST00000347328.5_Missense_Mutation_p.P414S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	485							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CTCAAATTTTCCACCTTTACC	0.378000													9	75					0	0	0.000274275	0	0
OR1L8	138881	broad.mit.edu	37	9	125330591	125330591	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:125330591G>A	ENST00000304865.2	-	1	247	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L56V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGGGTCTGAAGATGGGGGTTG	0.458000													7	83					0	0	0.000157383	0	0
TENM3	55714	broad.mit.edu	37	4	183601489	183601489	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:183601489G>A	ENST00000511685.1	+	9	1749	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	TENM3_ENST00000406950.2_Silent_p.P542P|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TTCTGGGTCCGGATTGTTCAA	0.413000													4	21					0	0	0.00024832	0	0
C14orf159	80017	broad.mit.edu	37	14	91639672	91639672	+	Missense_Mutation	SNP	C	C	T	rs148167595	byFrequency	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:91639672C>T	ENST00000518868.1	+	9	1186	c.496C>T	c.(496-498)Cct>Tct	p.P166S	C14orf159_ENST00000523816.1_Missense_Mutation_p.P161S|C14orf159_ENST00000525393.2_Missense_Mutation_p.P37S|C14orf159_ENST00000256324.10_Missense_Mutation_p.P166S|C14orf159_ENST00000522322.1_Missense_Mutation_p.P161S|C14orf159_ENST00000428926.2_Missense_Mutation_p.P161S|C14orf159_ENST00000412671.2_Missense_Mutation_p.P166S|C14orf159_ENST00000523771.1_Missense_Mutation_p.P161S|C14orf159_ENST00000521077.2_Missense_Mutation_p.P166S|C14orf159_ENST00000520328.1_Missense_Mutation_p.P161S			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	161						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CTTCTGCTGCCCTCTGGTGGT	0.502000											OREG0022869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	66					0	0	0.000442599	0	0
LIMCH1	22998	broad.mit.edu	37	4	41664900	41664900	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:41664900C>T	ENST00000313860.7	+	15	2089	c.2035C>T	c.(2035-2037)Ccc>Tcc	p.P679S	LIMCH1_ENST00000512820.1_Missense_Mutation_p.P667S|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P679S|LIMCH1_ENST00000512632.1_Missense_Mutation_p.P679S|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P513S|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P520S|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P1064S|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P513S|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P508S|LIMCH1_ENST00000396595.3_Missense_Mutation_p.P525S|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P520S|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P679S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	679					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGTGGAATTTCCCTCCAGCCC	0.463000													7	42					0	0	8.12818e-05	0	0
NPAP1	23742	broad.mit.edu	37	15	24921998	24921998	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:24921998G>A	ENST00000329468.2	+	1	1458	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGCAAAAGGAAAATGTCGA	0.587000													9	48					0	0	0.000274275	0	0
FSHR	2492	broad.mit.edu	37	2	49381435	49381435	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:49381435G>A	ENST00000406846.2	-	1	241	c.122C>T	c.(121-123)cCt>cTt	p.P41L	FSHR_ENST00000304421.4_Missense_Mutation_p.P41L|FSHR_ENST00000346173.3_Missense_Mutation_p.P41L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	41	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAGGTCAGAAGGAATCTCTGT	0.478000									Gonadal Dysgenesis, 46 XX				5	17					0	0	8.12818e-05	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282437	73282437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:73282437C>T	ENST00000402418.3	-	2	1145	c.236G>A	c.(235-237)tGg>tAg	p.W79*	SLC25A19_ENST00000416858.2_Nonsense_Mutation_p.W79*|SLC25A19_ENST00000580994.1_Nonsense_Mutation_p.W79*|SLC25A19_ENST00000320362.3_Nonsense_Mutation_p.W79*|SLC25A19_ENST00000375261.4_Nonsense_Mutation_p.W79*|SLC25A19_ENST00000442286.2_Nonsense_Mutation_p.W79*			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	79						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GTGTCCTTTCCAGAAAGCTGT	0.587000													11	72					0	0	0.000673444	0	0
OASL	8638	broad.mit.edu	37	12	121458456	121458456	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:121458456C>T	ENST00000257570.5	-	6	1723	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	485	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCAACCAGTCCTGCAGGACT	0.522000													37	271					0	0	0.00128727	0	0
CLUL1	27098	broad.mit.edu	37	18	627154	627154	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:627154G>A	ENST00000581619.1	+	5	1403	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	CLUL1_ENST00000400606.2_Missense_Mutation_p.E161K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E161K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E161K|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000540035.1_Missense_Mutation_p.E213K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	161					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TGAAGATAATGAAAAAGATCT	0.373000													9	63					0	0	0.000442599	0	0
MYH1	4619	broad.mit.edu	37	17	10397900	10397900	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:10397900C>T	ENST00000226207.5	-	38	5651	c.5557G>A	c.(5557-5559)Gaa>Aaa	p.E1853K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1853						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAAGTGAGTTCCTTCACTTTT	0.383000													10	94					0	0	0.000978159	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417024	89417024	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:89417024C>T	ENST00000490686.1	-	0	186																											CAGCCTAAATCATTTCTAATG	0.532000													18	99					0	0	0.000958276	0	0
OR4K5	79317	broad.mit.edu	37	14	20389351	20389351	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:20389351G>A	ENST00000315915.4	+	1	611	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACATCATTGAAATACTAAT	0.408000													17	125					0	0	0.00074312	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585448	70585448	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:70585448G>A	ENST00000260126.3	-	10	2909	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R680C	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	735						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TACACAAAACGAAACGACGTC	0.463000													71	136					0	0	0.000781405	0	0
NLRP4	147945	broad.mit.edu	37	19	56382302	56382302	+	Missense_Mutation	SNP	G	G	A	rs140263319	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:56382302G>A	ENST00000301295.6	+	7	2886	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E747K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E766K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	822							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTGAAGGACGAAGGACTGAA	0.512000													7	70					0	0	0.000442599	0	0
SCN9A	6335	broad.mit.edu	37	2	167133823	167133823	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:167133823G>A	ENST00000303354.6	-	16	2887	c.2547C>T	c.(2545-2547)tcC>tcT	p.S849S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.S837S|SCN9A_ENST00000409435.1_Silent_p.S848S|SCN9A_ENST00000375387.4_Silent_p.S849S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	848						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATGTTGGCCAGGATTTTGCCA	0.368000													7	38					0	0	0.000157383	0	0
CNGA4	1262	broad.mit.edu	37	11	6260614	6260614	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:6260614G>A	ENST00000379936.2	+	2	178	c.62_splice	c.e2-1	p.R21_splice	CNGA4_ENST00000533426.1_5'UTR	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	21					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTTACAGGAAGTTGCTGC	0.483000													41	153					0	0	0.00170553	0	0
KCNH5	27133	broad.mit.edu	37	14	63174645	63174645	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:63174645C>T	ENST00000322893.7	-	11	2816	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	850					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACACTGTTCTCTGAATCACTG	0.448000													16	87					0	0	0.00074312	0	0
KCTD7	154881	broad.mit.edu	37	7	66264330	66264330	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:66264330C>T	ENST00000380828.2	+	9	1023	c.869C>T	c.(868-870)cCt>cTt	p.P290L	RABGEF1_ENST00000284957.5_Missense_Mutation_p.P250L|RABGEF1_ENST00000450873.2_Missense_Mutation_p.P250L|RABGEF1_ENST00000437078.2_Missense_Mutation_p.P264L|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Missense_Mutation_p.P250L|RABGEF1_ENST00000439720.2_Missense_Mutation_p.P263L|KCTD7_ENST00000510829.2_Missense_Mutation_p.P250L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGGGTTACGCCTCAGATGCTG	0.478000													7	72					0	0	0.000157383	0	0
MYH13	8735	broad.mit.edu	37	17	10247202	10247202	+	Silent	SNP	C	C	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:10247202C>A	ENST00000418404.3	-	15	1972	c.1809G>T	c.(1807-1809)ctG>ctT	p.L603L	MYH13_ENST00000570743.1_Silent_p.L603L|MYH13_ENST00000252172.4_Silent_p.L603L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	603	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGTCTCGTTCAGGGGGTCCT	0.532000													10	45					9.70103e-10	6.27931e-09	0.000673444	1	0
KRT28	162605	broad.mit.edu	37	17	38955977	38955977	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:38955977G>A	ENST00000306658.7	-	1	234	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	57	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTCCCACCAGGAACACTGCCC	0.562000													9	55					0	0	0.000442599	0	0
MIR329-1	574408	broad.mit.edu	37	14	101493169	101493169	+	RNA	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:101493169G>A	ENST00000385028.1	+	0	48					NR_029967.1																						TAATGAGGACGAAACACACCT	0.468000													12	78					0	0	0.000308642	0	0
CWC22	57703	broad.mit.edu	37	2	180810261	180810261	+	Silent	SNP	A	A	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:180810261A>G	ENST00000410053.3	-	20	2621	c.2322T>C	c.(2320-2322)ggT>ggC	p.G774G	CWC22_ENST00000295749.6_Silent_p.G774G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	774						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCCAATTTGAACCACTTGAAT	0.383000													26	132					0	0	0.00106085	0	0
PTPRN	5798	broad.mit.edu	37	2	220167204	220167204	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:220167204G>A	ENST00000295718.2	-	6	889	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.R127C|PTPRN_ENST00000409251.3_Missense_Mutation_p.R217C	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	217					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGCCATCACGGGAGCCAAAC	0.617000													9	46					0	0	0.000442599	0	0
KIAA1257	57501	broad.mit.edu	37	3	128697005	128697005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:128697005G>A	ENST00000265068.5	-	5	858	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.Q119*|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.Q231*	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	231										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AATTTTCTCTGATTTAAAACC	0.353000													20	80					0	0	0.00188189	0	0
SLC6A12	6539	broad.mit.edu	37	12	307164	307164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:307164C>T	ENST00000428720.1	-	9	1595	c.852G>A	c.(850-852)tgG>tgA	p.W284*	SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.W284*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.W284*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.W284*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.W284*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	284					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCGCATCCATCCACACCTACA	0.592000													5	40					0	0	0.000602214	0	0
CLCN7	1186	broad.mit.edu	37	16	1498384	1498384	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:1498384G>A	ENST00000382745.4	-	21	2590	c.1985C>T	c.(1984-1986)cCc>cTc	p.P662L	CLCN7_ENST00000262318.8_Missense_Mutation_p.P638L|CLCN7_ENST00000448525.1_Missense_Mutation_p.P638L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	662	CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTCCACCACGGGGAAGCCGTT	0.622000													5	24					0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179613945	179613945	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:179613945T>G	ENST00000360870.5	-	46	13404	c.13182A>C	c.(13180-13182)gaA>gaC	p.E4394D	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	524	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTCTTATTTCTTTCTTAA	0.333000													4	21					0	0	0.00024832	0	0
NDC80	10403	broad.mit.edu	37	18	2610828	2610828	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:2610828G>A	ENST00000261597.4	+	16	1941	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	587	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	p.E587K(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ACGTCTGTTAGAGATGGTTGC	0.373000													15	80					0	0	0.000219431	0	0
PDZD2	23037	broad.mit.edu	37	5	32053902	32053902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:32053902C>T	ENST00000438447.1	+	10	2201	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.R605*			O15018	PDZD2_HUMAN	PDZ domain containing 2	605	PDZ 3.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCTGGAGGTCGAGACTGCAT	0.483000													7	107					0	0	0.000157383	0	0
ZNF354B	117608	broad.mit.edu	37	5	178309887	178309887	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:178309887C>T	ENST00000322434.3	+	5	660	c.434C>T	c.(433-435)tCa>tTa	p.S145L		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAATAATTTCAGTTGCCCAT	0.328000													7	31					0	0	8.12818e-05	0	0
C1orf173	127254	broad.mit.edu	37	1	75072544	75072544	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:75072544C>T	ENST00000326665.5	-	10	1448	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.P213P	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	410								p.P410P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGATTTCGGCAAAGACG	0.413000													6	34					0	0	8.12818e-05	0	0
LRRC15	131578	broad.mit.edu	37	3	194081662	194081662	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:194081662C>T	ENST00000347624.3	-	2	196	c.111G>A	c.(109-111)gtG>gtA	p.V37V	LRRC15_ENST00000428839.1_Silent_p.V43V|LRRC15_ENST00000439944.2_Silent_p.V43V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	37	LRRNT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CGGTGCACTCCACCTGGGAGG	0.612000													5	15					0	0	0.000602214	0	0
ADAD2	161931	broad.mit.edu	37	16	84230329	84230329	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:84230329G>C	ENST00000268624.3	+	10	1942	c.1849G>C	c.(1849-1851)Ggg>Cgg	p.G617R	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G535R	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	535					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CAGGGCTGTGGGGAAGCCCTA	0.672000													4	62					0	0	0.00024832	0	0
OR2M3	127062	broad.mit.edu	37	1	248367019	248367019	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:248367019C>T	ENST00000456743.1	+	1	688	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCATTGCTTCCTATGCTCGA	0.423000													34	137					0	0	0.00148497	0	0
SLC8A1	6546	broad.mit.edu	37	2	40397470	40397470	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:40397470C>T	ENST00000542756.1	-	6	1997	c.1974G>A	c.(1972-1974)aaG>aaA	p.K658K	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.K655K|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000405901.3_Silent_p.K658K|SLC8A1_ENST00000403092.1_Silent_p.K663K|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Silent_p.K663K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	663					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAGCATGAACCTTCCTGAAGA	0.418000													4	30					0	0	0.000602214	0	0
POLE	5426	broad.mit.edu	37	12	133245029	133245029	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:133245029G>A	ENST00000320574.5	-	19	2129	c.2086C>T	c.(2086-2088)Ccc>Tcc	p.P696S	POLE_ENST00000535270.1_Missense_Mutation_p.P669S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	696					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AACAAGGGGGGGAACTTCTCT	0.602000								DNA polymerases (catalytic subunits)					6	78					0	0	8.12818e-05	0	0
VPREB1	7441	broad.mit.edu	37	22	22599668	22599668	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:22599668C>T	ENST00000403807.3	+	2	496	c.357C>T	c.(355-357)gcC>gcT	p.A119A	VPREB1_ENST00000302273.2_Silent_p.A118A			P12018	VPREB_HUMAN	pre-B lymphocyte 1	119	Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CTATGGGGGCCCGCAGCTCgg	0.567000													4	6					0	0	0.00024832	0	0
KCNMA1	3778	broad.mit.edu	37	10	78709064	78709064	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:78709064C>T	ENST00000286627.5	-	21	3323	c.2371G>A	c.(2371-2373)Gac>Aac	p.D791N	KCNMA1_ENST00000286628.8_Missense_Mutation_p.D849N|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D832N|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D791N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D852N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D791N|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D853N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D849N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	849					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GAGCTGACGTCGCCAAAGATG	0.552000													4	23					0	0	0.00024832	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621238	38621238	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:38621238T>C	ENST00000222345.6	+	10	3478	c.2969T>C	c.(2968-2970)gTt>gCt	p.V990A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	990	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGGCCGAGGTTGAGGACTAT	0.657000													6	64					0	0	0.00116845	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504946	151504946	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:151504946G>A	ENST00000317605.4	+	1	1870	c.765G>A	c.(763-765)aaG>aaA	p.K255K	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	255					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CAGTGCTGAAGACTCTGCGGG	0.622000													11	27					0	0	0.000978159	0	0
TRDV1	28518	broad.mit.edu	37	14	22564744	22564744	+	RNA	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:22564744G>A	ENST00000390452.2	+	0	213																											GCAAAGAGATGATTTTCCTTA	0.428000													9	59					0	0	0.000442599	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395820	38395820	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:38395820C>T	ENST00000377698.3	+	2	228	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	25					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAGCAGCCCTCCCAAGCCCCA	0.592000													9	39					0	0	0.000442599	0	0
ASTN1	460	broad.mit.edu	37	1	176857294	176857294	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:176857294C>T	ENST00000367654.2	-	18	3024	c.3011G>A	c.(3010-3012)gGa>gAa	p.G1004E	ASTN1_ENST00000367657.3_Missense_Mutation_p.G996E|ASTN1_ENST00000361833.2_Missense_Mutation_p.G996E|ASTN1_ENST00000424564.2_Missense_Mutation_p.G996E			O14525	ASTN1_HUMAN	astrotactin 1	1004					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGACATCTCCAGTCCCTGA	0.542000													10	40					0	0	0.000442599	0	0
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:8307709A>G	ENST00000307358.2	+	9	1412	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647000													4	66					0	0	0.00024832	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214183	140214183	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:140214183G>A	ENST00000525929.1	+	1	215	c.215G>A	c.(214-216)gGg>gAg	p.G72E	PCDHA7_ENST00000378125.3_Missense_Mutation_p.G72E|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCCGTGGGGATCTTCTG	0.617000													45	108					0	0	0.000680045	0	0
RTL1	388015	broad.mit.edu	37	14	101348154	101348154	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:101348154C>T	ENST00000534062.1	-	1	3030	c.2972G>A	c.(2971-2973)cGa>cAa	p.R991Q		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	991								p.R991Q(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGCAGAGCTCGGCCGCCGTC	0.587000													5	41					0	0	0.000602214	0	0
EIF3F	8665	broad.mit.edu	37	11	8014441	8014441	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:8014441A>C	ENST00000533626.1	+	6	1149	c.523A>C	c.(523-525)Acg>Ccg	p.T175P	EIF3F_ENST00000309828.4_Missense_Mutation_p.T175P|EIF3F_ENST00000537635.1_Missense_Mutation_p.T190P|EIF3F_ENST00000449102.2_Missense_Mutation_p.T26P			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	175	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGGTACGCTACGGGCCATGA	0.537000													6	90					0	0	0.00116845	0	0
NOL8	55035	broad.mit.edu	37	9	95077144	95077144	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:95077144G>A	ENST00000545558.1	-	7	2255	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	NOL8_ENST00000535387.1_Missense_Mutation_p.S588F|NOL8_ENST00000542053.1_Missense_Mutation_p.S520F|NOL8_ENST00000442668.2_Missense_Mutation_p.S588F|NOL8_ENST00000358855.4_Missense_Mutation_p.S520F			Q76FK4	NOL8_HUMAN	nucleolar protein 8	588					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTCTTTCAAGGATTTTTTCAT	0.378000													4	25					0	0	0.00024832	0	0
MORN1	79906	broad.mit.edu	37	1	2267927	2267927	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:2267927C>T	ENST00000378531.3	-	12	1404	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	411										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CCAGGAGGCTCCTGTGCCGTG	0.657000													9	20					0	0	0.000673444	0	0
INSL6	11172	broad.mit.edu	37	9	5185451	5185451	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:5185451C>T	ENST00000381641.3	-	1	217	c.152G>A	c.(151-153)aGc>aAc	p.S51N		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	51						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACGGAACTGGCTCCAGTTGGC	0.542000													8	78					0	0	0.000274275	0	0
PAK7	57144	broad.mit.edu	37	20	9624791	9624791	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:9624791G>A	ENST00000378429.3	-	4	732	c.186C>T	c.(184-186)atC>atT	p.I62I	PAK7_ENST00000378423.1_Silent_p.I62I|PAK7_ENST00000353224.5_Silent_p.I62I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	62	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)			GAGCCAGCTGGATGGGTGTGA	0.507000													16	49					0	0	0.000422831	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218686	8218686	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:8218686C>T	ENST00000539824.1	+	7	777	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	SH3TC1_ENST00000245105.3_Missense_Mutation_p.P211S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	211							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TTTTGAAGGGCCCTTCTTTGT	0.652000													7	31					0	0	0.000157383	0	0
OR2T2	401992	broad.mit.edu	37	1	248616137	248616137	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:248616137C>T	ENST00000342927.3	+	1	61	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTAACTTCGTCCTCACAG	0.507000													17	94					0	0	0.000375601	0	0
SCN11A	11280	broad.mit.edu	37	3	38938441	38938441	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:38938441G>A	ENST00000302328.3	-	14	2496	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C	SCN11A_ENST00000456224.3_Silent_p.C766C|SCN11A_ENST00000444237.2_Silent_p.C766C|SCN11A_ENST00000450244.1_Silent_p.C766C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	766					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCATTCCCCGCAGAGGATGC	0.468000													10	36					0	0	0.000978159	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672553	44672553	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:44672553G>A	ENST00000454036.1	+	11	1520	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G459R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	482					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCATTGAGGGGGTCGTCCT	0.562000													6	116					0	0	8.12818e-05	0	0
MTTP	4547	broad.mit.edu	37	4	100543903	100543903	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:100543903C>T	ENST00000457717.1	+	19	2839	c.2583C>T	c.(2581-2583)agC>agT	p.S861S	MTTP_ENST00000511045.1_Silent_p.S888S|MTTP_ENST00000265517.5_Silent_p.S861S|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	861					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GAAAAGAAAGCGTATTAGCAG	0.438000													9	77					0	0	0.000442599	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879504	73879504	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:73879504G>A	ENST00000342056.2	+	12	1959	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	KCNQ5_ENST00000403813.2_Missense_Mutation_p.E493K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E503K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E502K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.E502K|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E512K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	502					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGTATATGATGAAAAAGGATG	0.418000													8	49					0	0	0.000673444	0	0
USP17L2	377630	broad.mit.edu	37	8	11995065	11995065	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:11995065C>G	ENST00000333796.3	-	1	1521	c.1205G>C	c.(1204-1206)cGa>cCa	p.R402P	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	402					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGCGTTGCTCGCCTGTCTGT	0.562000													6	61					0	0	8.12818e-05	0	0
DNAH7	56171	broad.mit.edu	37	2	196753050	196753050	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:196753050C>T	ENST00000312428.6	-	33	5438	c.5338G>A	c.(5338-5340)Gaa>Aaa	p.E1780K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1780	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTATGAATTCCTTTTGAATA	0.383000													12	37					0	0	0.000978159	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762115	101762115	+	Silent	SNP	A	A	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:101762115A>T	ENST00000334289.3	-	9	1657	c.1062T>A	c.(1060-1062)ctT>ctA	p.L354L		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	354	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTCCAGTTGCAAGCAATTTTC	0.398000													24	84					0	0	0.000720815	0	0
ARID5B	84159	broad.mit.edu	37	10	63850777	63850777	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:63850777G>A	ENST00000279873.7	+	10	1965	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	ARID5B_ENST00000309334.5_Missense_Mutation_p.E276K	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	519					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAGGACAACGAAACAGACCA	0.537000													14	64					0	0	0.000422831	0	0
NEK11	79858	broad.mit.edu	37	3	130889706	130889706	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:130889706T>G	ENST00000383366.4	+	14	1667	c.1374T>G	c.(1372-1374)gaT>gaG	p.D458E	NEK11_ENST00000508196.1_Missense_Mutation_p.D458E|NEK11_ENST00000429253.2_Missense_Mutation_p.D458E|NEK11_ENST00000511262.1_Missense_Mutation_p.D458E|NEK11_ENST00000507910.1_Missense_Mutation_p.D458E|NEK11_ENST00000510688.1_Missense_Mutation_p.D458E|NEK11_ENST00000412440.2_Missense_Mutation_p.D274E|NEK11_ENST00000510769.1_Missense_Mutation_p.D353E|NEK11_ENST00000356918.4_Missense_Mutation_p.D458E	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	458					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TTGTAGAGGATGCCACATCTG	0.483000													6	174					0	0	8.12818e-05	0	0
SALL1	6299	broad.mit.edu	37	16	51171260	51171260	+	Silent	SNP	C	C	T	rs145953478		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:51171260C>T	ENST00000440970.1	-	3	3878	c.3447G>A	c.(3445-3447)gcG>gcA	p.A1149A	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000251020.4_Silent_p.A1246A|SALL1_ENST00000541611.1_Silent_p.A69A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1246					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGCCTTCATCGCCAGCCCGT	0.562000													5	41					0	0	0.000602214	0	0
OR10H5	284433	broad.mit.edu	37	19	15904951	15904951	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:15904951C>T	ENST00000308940.8	+	1	191	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCCTGCTGTTCCTGCTGATGT	0.587000													11	120					0	0	0.000978159	0	0
PTPRT	11122	broad.mit.edu	37	20	40727189	40727189	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:40727189G>A	ENST00000373198.3	-	28	4019	c.3784C>T	c.(3784-3786)Cac>Tac	p.H1262Y	PTPRT_ENST00000373190.1_Missense_Mutation_p.H1239Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H1230Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H1249Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.H1240Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.H1243Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H1250Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1240	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCTGCTTGTGGCTCTGACAA	0.542000													7	46					0	0	0.000442599	0	0
GRIN2D	2906	broad.mit.edu	37	19	48918128	48918128	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:48918128C>T	ENST00000263269.3	+	6	1508	c.1420C>T	c.(1420-1422)Ccg>Tcg	p.P474S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	474						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CAGCCCTCCACCGGATGCCCC	0.607000													5	55					0	0	8.12818e-05	0	0
MCTP2	55784	broad.mit.edu	37	15	94883438	94883438	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:94883438G>A	ENST00000357742.4	+	5	791	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.R264Q|MCTP2_ENST00000451018.3_Missense_Mutation_p.R264Q	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	264	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTATATGATCGAGATTTAACC	0.318000													25	109					0	0	0.000586117	0	0
LINC00842	643650	broad.mit.edu	37	10	47133571	47133571	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:47133571C>T	ENST00000422732.2	-	0	435					NR_033957.1																						ttacagccatccccactgcca	0.453000													9	94					0	0	0.000274275	0	0
PRSS1	5644	broad.mit.edu	37	7	142459860	142459860	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:142459860A>T	ENST00000486171.1	+	4	495	c.478A>T	c.(478-480)Aac>Tac	p.N160Y	PRSS1_ENST00000311737.7_Missense_Mutation_p.N146Y			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	146	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGGCTGGGGCAACACTGCGAG	0.577000													9	65					0	0	0.000442599	0	0
IFNA5	3442	broad.mit.edu	37	9	21305122	21305122	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:21305122C>T	ENST00000259555.4	-	1	190	c.134G>A	c.(133-135)gGa>gAa	p.G45E		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	45					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGATTCTTCCCATTTGTGC	0.493000													14	73					0	0	0.00185496	0	0
CHRNB4	1143	broad.mit.edu	37	15	78917350	78917350	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:78917350T>G	ENST00000412074.2	-	5	754	c.643A>C	c.(643-645)Acc>Ccc	p.T215P	CHRNB4_ENST00000261751.3_3'UTR	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	0					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CTGTGGCTGGTTTGATGGGGT	0.572000													5	5					0	0	8.12818e-05	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858085	9858085	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:9858085G>A	ENST00000396573.2	-	14	3625	c.3316C>T	c.(3316-3318)Ctg>Ttg	p.L1106L	GRIN2A_ENST00000404927.2_Silent_p.L1106L|GRIN2A_ENST00000562109.1_Silent_p.L1106L|GRIN2A_ENST00000535259.1_Silent_p.L949L|GRIN2A_ENST00000396575.2_Silent_p.L1106L|GRIN2A_ENST00000330684.3_Silent_p.L1106L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1106					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGTTTTCAGGTAGGTGCGC	0.463000													8	119					0	0	0.000157383	0	0
NBPF20	100288142	broad.mit.edu	37	1	148344705	148344705	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:148344705C>T	ENST00000369202.1	-	3	410	c.213G>A	c.(211-213)ctG>ctA	p.L71L	NBPF20_ENST00000414710.2_Silent_p.L71L					neuroblastoma breakpoint family, member 20									p.L71L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						GCTCATTCCTCAGCATAAATT	0.542000													13	257					0	0	0.00121646	0	0
MUC16	94025	broad.mit.edu	37	19	9008345	9008345	+	Splice_Site	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:9008345C>T	ENST00000397910.4	-	41	39410	c.39206_splice	c.e41-1	p.R13069_splice		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13071	SEA 7.				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						CCTTCTCAGACCTGGGGAAGG	0.542000													9	65					0	0	0.000673444	0	0
RAB41	347517	broad.mit.edu	37	X	69502086	69502086	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:69502086G>A	ENST00000374473.2	+	1	65	c.19G>A	c.(19-21)Gac>Aac	p.D7N	RAB41_ENST00000276066.4_Missense_Mutation_p.D7N			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	7					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						CTTTGGTCACGACGAGGCCTG	0.562000													6	17					0	0	8.12818e-05	0	0
AHNAK	79026	broad.mit.edu	37	11	62292482	62292482	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:62292482G>A	ENST00000378024.4	-	5	9681	c.9407C>T	c.(9406-9408)gCc>gTc	p.A3136V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3136					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)				CACATCTGGGGCATTAATATC	0.473000													7	302					0	0	0.000157383	0	0
PLBD1	79887	broad.mit.edu	37	12	14689527	14689527	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:14689527C>T	ENST00000240617.5	-	5	1328	c.676G>A	c.(676-678)Gga>Aga	p.G226R		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	226					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCAATGTCCCATGTCCCAT	0.428000													8	50					0	0	0.000274275	0	0
ANO1	55107	broad.mit.edu	37	11	70007287	70007287	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:70007287C>T	ENST00000355303.5	+	17	1904	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	ANO1_ENST00000538023.1_Silent_p.I533I|ANO1_ENST00000531349.1_Silent_p.I242I|ANO1_ENST00000530676.1_Silent_p.I387I|ANO1_ENST00000398543.2_Silent_p.I387I|ANO1_ENST00000316296.5_Silent_p.I475I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	533					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CGTTTGCCATCGTCCTCGGCG	0.632000													4	26					0	0	0.00024832	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187773	42187773	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:42187773C>T	ENST00000006724.3	-	3	850	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CEACAM7_ENST00000401731.1_Missense_Mutation_p.E217K|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	217	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TTCTGTATTTCACATTCATAG	0.557000													14	110					0	0	0.000308642	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971097	21971097	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:21971097C>T	ENST00000579755.1	-	2	596	c.304G>A	c.(304-306)Gga>Aga	p.G102R	CDKN2A_ENST00000479692.2_Silent_p.R36R|CDKN2A_ENST00000497750.1_Silent_p.R36R|CDKN2A_ENST00000578845.2_Silent_p.R36R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Silent_p.R87R|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102R|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143R|CDKN2A_ENST00000494262.1_Silent_p.R36R|CDKN2A_ENST00000446177.1_Silent_p.R87R|CDKN2A_ENST00000304494.5_Silent_p.R87R|CDKN2A_ENST00000579122.1_Silent_p.R87R|CDKN2A_ENST00000498628.2_Silent_p.R36R			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGAAGCCCTCCCGGGCAGCGT	0.756000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			14	94					0	0	0.000422831	0	0
DIP2B	57609	broad.mit.edu	37	12	51069147	51069147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:51069147C>T	ENST00000301180.5	+	7	866	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	278						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TACAAAAATCCAGCAGCTTCT	0.368000													9	60					0	0	0.000274275	0	0
MSTO1	55154	broad.mit.edu	37	1	155582230	155582230	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:155582230C>T	ENST00000245564.2	+	9	859	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.R244C|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	279					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AAACATCTATCGTCTATTAAA	0.532000													24	49					0	0	0.00127121	0	0
SSPO	23145	broad.mit.edu	37	7	149530948	149530948	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:149530948C>T	ENST00000378016.2	+	0	15477							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCACAGCTGTCCCTCTTGTGA	0.582000													11	22					0	0	0.000308642	0	0
HSF1	3297	broad.mit.edu	37	8	145537689	145537689	+	Silent	SNP	C	C	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:145537689C>A	ENST00000528838.1	+	12	1516	c.1356C>A	c.(1354-1356)ccC>ccA	p.P452P	HSF1_ENST00000528842.1_3'UTR|HSF1_ENST00000400780.4_Silent_p.P393P	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	452	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGGCCTCCCGAGGCAGAGA	0.692000													4	33					0.00116845	0.00740223	0.00116845	1	0
GCK	2645	broad.mit.edu	37	7	44189389	44189389	+	Missense_Mutation	SNP	C	C	T	rs147065275		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:44189389C>T	ENST00000403799.3	-	6	1118	c.649G>A	c.(649-651)Gac>Aac	p.D217N	GCK_ENST00000345378.2_Missense_Mutation_p.D218N|GCK_ENST00000395796.3_Missense_Mutation_p.D216N|GCK_ENST00000437084.1_Missense_Mutation_p.D200N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	217					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CACTGATGGTCTTCGTAGTAG	0.567000													100	271					0	0	0.000781405	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64495289	64495289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:64495289G>A	ENST00000303052.7	-	10	1522	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	CSNK1G1_ENST00000303032.6_Nonsense_Mutation_p.R367*|CSNK1G1_ENST00000607537.1_Nonsense_Mutation_p.R367*|CTD-2116N17.1_ENST00000606793.1_Nonsense_Mutation_p.R349*	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	367					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						ACCTGATTTCGAAGAGGCTGC	0.453000													14	39					0	0	0.00185496	0	0
ALOX12B	242	broad.mit.edu	37	17	7978985	7978985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:7978985C>T	ENST00000319144.4	-	12	1842	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	528	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGATCACCCTCCACGGCTGCG	0.572000										Multiple Myeloma(8;0.094)			21	145					0	0	0.00047179	0	0
WDR65	149465	broad.mit.edu	37	1	43663253	43663253	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:43663253G>A	ENST00000372492.4	+	7	1476	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	WDR65_ENST00000528956.1_Missense_Mutation_p.M384I	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	384										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTATTTGATGTATCCATTGC	0.488000													24	83					0	0	0.000339439	0	0
CERS2	29956	broad.mit.edu	37	1	150939673	150939673	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:150939673G>A	ENST00000271688.6	-	8	1004	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CERS2_ENST00000368954.5_Silent_p.F206F|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Silent_p.F197F	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	206	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCTGTTCCTTGAAATCCTGCA	0.493000													21	59					0	0	0.000295444	0	0
AP3S1	1176	broad.mit.edu	37	5	115238627	115238627	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:115238627G>A	ENST00000316788.7	+	5	948	c.391G>A	c.(391-393)Gag>Aag	p.E131K	AP3S1_ENST00000505423.1_Intron	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	131					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AATGGTATTGGAGACAAATAT	0.323000													4	50					0	0	0.000602214	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221176	140221176	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:140221176C>T	ENST00000531613.1	+	1	270	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA8_ENST00000378123.3_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1												p.I90I(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.612000													33	96					0	0	0.000953801	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532015	190532015	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:190532015C>T	ENST00000260952.4	+	4	1570	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	386	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAAGAATTCTCTAAAGATGTT	0.398000													6	25					0	0	8.12818e-05	0	0
WDR65	149465	broad.mit.edu	37	1	43663254	43663254	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:43663254T>A	ENST00000372492.4	+	7	1477	c.1153T>A	c.(1153-1155)Tat>Aat	p.Y385N	WDR65_ENST00000528956.1_Missense_Mutation_p.Y385N	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	385										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTATTTGATGTATCCATTGCA	0.488000													27	81					0	0	0.00058488	0	0
ZNF816	125893	broad.mit.edu	37	19	53456034	53456034	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:53456034A>G	ENST00000391786.2	-	3	282	c.143T>C	c.(142-144)gTt>gCt	p.V48A	ZNF816_ENST00000270457.4_Silent_p.L54L|ZNF816_ENST00000444460.2_Silent_p.L54L|ZNF816_ENST00000535506.1_Silent_p.L54L|ZNF816_ENST00000438970.2_Silent_p.L54L|ZNF321P_ENST00000391777.3_Silent_p.L54L|ZNF816_ENST00000434371.2_Silent_p.L54L|ZNF816_ENST00000357666.4_Silent_p.L54L			Q0VGE8	ZN816_HUMAN	zinc finger protein 816	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TAGTTCTCCAACATCACAGCC	0.468000													20	104					0	0	0.00188189	0	0
OR1L3	26735	broad.mit.edu	37	9	125437530	125437530	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:125437530G>A	ENST00000304820.2	+	1	216	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ACTTTGATGGGAAATCTGCTC	0.428000													19	94					0	0	0.00047179	0	0
KIF15	56992	broad.mit.edu	37	3	44879877	44879877	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:44879877C>T	ENST00000326047.4	+	27	3431	c.3282C>T	c.(3280-3282)acC>acT	p.T1094T	KIF15_ENST00000425755.1_Silent_p.T729T	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1094					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAGAACTGACCAAGAAGGAAG	0.527000													8	33					0	0	0.000157383	0	0
PPP1R42	286187	broad.mit.edu	37	8	67900707	67900707	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr8:67900707C>T	ENST00000522909.1	-	6	782	c.598G>A	c.(598-600)Gat>Aat	p.D200N	PPP1R42_ENST00000324682.5_Missense_Mutation_p.D200N			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	200																	CCATTTAGATCAATTTTCCAC	0.308000													7	26					0	0	8.12818e-05	0	0
AQP7	364	broad.mit.edu	37	9	33395117	33395117	+	Silent	SNP	G	G	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:33395117G>T	ENST00000539936.1	-	3	341	c.103C>A	c.(103-105)Cga>Aga	p.R35R	AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	35					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGGAACTCTCGCACCATCTTC	0.587000													4	39					1.23904e-05	7.95524e-05	0.000602214	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73153511	73153511	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:73153511C>T	ENST00000545377.1	+	15	1997	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	ARHGEF28_ENST00000437974.1_Silent_p.I607I|ARHGEF28_ENST00000287898.5_Silent_p.I607I|ARHGEF28_ENST00000296799.4_Silent_p.I294I|ARHGEF28_ENST00000296794.6_Silent_p.I607I|ARHGEF28_ENST00000513042.2_Silent_p.I607I|ARHGEF28_ENST00000426542.2_Silent_p.I607I	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		ATAAATACATCATACCTGCCA	0.353000													4	6					0	0	0.00024832	0	0
OR6V1	346517	broad.mit.edu	37	7	142749551	142749551	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:142749551G>A	ENST00000418316.1	+	1	135	c.114G>A	c.(112-114)atG>atA	p.M38I		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCGCCTTCATGGGAAACACCA	0.502000													18	232					0	0	0.000566183	0	0
SEL1L3	23231	broad.mit.edu	37	4	25780745	25780745	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:25780745G>A	ENST00000399878.3	-	16	2660	c.2538C>T	c.(2536-2538)atC>atT	p.I846I	SEL1L3_ENST00000502949.1_Silent_p.I693I|SEL1L3_ENST00000264868.5_Silent_p.I811I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	846						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GGTTGCCTGTGATATAGTAGA	0.438000													11	66					0	0	0.00136819	0	0
CCDC141	285025	broad.mit.edu	37	2	179702336	179702336	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:179702336C>T	ENST00000420890.2	-	23	3727	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.E629K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	629							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATATTCTTCCCCTGAGAGC	0.567000													11	45					0	0	0.000673444	0	0
DCC	1630	broad.mit.edu	37	18	51025755	51025755	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:51025755G>A	ENST00000442544.2	+	27	4602	c.3986G>A	c.(3985-3987)aGa>aAa	p.R1329K	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.R962K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1329					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCACCAAGCAGAACCATCCCC	0.542000													8	56					0	0	0.000157383	0	0
F13B	2165	broad.mit.edu	37	1	197019935	197019935	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:197019935C>T	ENST00000367412.1	-	10	1673	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	544	Sushi 9.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GAGCCATTTTCATAGGTGTCT	0.363000													9	23					0	0	0.000274275	0	0
RGN	9104	broad.mit.edu	37	X	46951461	46951461	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:46951461G>A	ENST00000397180.1	+	7	1665	c.694_splice	c.e7-1	p.G232_splice	RGN_ENST00000457380.1_Splice_Site_p.G160_splice|RGN_ENST00000352078.4_Splice_Site_p.G232_splice|RGN_ENST00000336169.3_Splice_Site_p.G232_splice	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	232					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GTGGTCTAGGGAAAAGACTTC	0.398000													4	9					0	0	0.00024832	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087307	39087307	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr21:39087307C>T	ENST00000400482.3	-	3	742	c.153G>A	c.(151-153)agG>agA	p.R51R	KCNJ6_ENST00000288309.6_Silent_p.R51R	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	51					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCTGGATTTTCCTTTTGGTCC	0.522000													12	105					0	0	0.00136819	0	0
THSD7B	80731	broad.mit.edu	37	2	137990559	137990559	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:137990559C>T	ENST00000409968.1	+	9	2184	c.2006C>T	c.(2005-2007)cCt>cTt	p.P669L	THSD7B_ENST00000413152.2_Missense_Mutation_p.P638L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P669L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGACATCGCCTTGGGGCCCT	0.517000													6	36					0	0	0.00116845	0	0
NEK5	341676	broad.mit.edu	37	13	52676141	52676141	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:52676141C>T	ENST00000355568.4	-	11	959	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	274							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTGAATTCTTCCTGAATGACC	0.463000													6	46					0	0	0.00116845	0	0
MYO5C	55930	broad.mit.edu	37	15	52497304	52497304	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:52497304G>A	ENST00000261839.7	-	38	4739	c.4578C>T	c.(4576-4578)tcC>tcT	p.S1526S	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1526	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.S1526S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTTCAGGCCGGAAATGCCCT	0.597000													19	79					0	0	0.000958276	0	0
CCND2	894	broad.mit.edu	37	12	4409098	4409098	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:4409098C>A	ENST00000261254.3	+	5	1062	c.793C>A	c.(793-795)Caa>Aaa	p.Q265K		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	265					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CCGTCAGGACCAACGTGACGG	0.557000			T	IGL@	"""NHL,CLL"""								6	56					8.12818e-05	0.000520466	8.12818e-05	1	0
MTMR14	64419	broad.mit.edu	37	3	9743578	9743578	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:9743578C>T	ENST00000296003.4	+	19	1996	c.1874C>T	c.(1873-1875)cCt>cTt	p.P625L	MTMR14_ENST00000353332.5_Missense_Mutation_p.P573L|MTMR14_ENST00000420925.1_Missense_Mutation_p.P267L|MTMR14_ENST00000351233.5_Missense_Mutation_p.P513L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	625						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GCCCCCAGTCCTTCCGGTGCC	0.617000													5	74					0	0	0.00116845	0	0
TREML1	340205	broad.mit.edu	37	6	41117514	41117514	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:41117514C>T	ENST00000426005.2	-	6	807	c.764G>A	c.(763-765)gGa>gAa	p.G255E	TREML1_ENST00000373127.4_3'UTR|TREML1_ENST00000437044.2_Missense_Mutation_p.G144E	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	255	Pro-rich.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGGTTTTCCTGATGGGGA	0.512000													10	61					0	0	0.000978159	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671551	10671551	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:10671551G>A	ENST00000302079.6	-	51	8042	c.8043C>T	c.(8041-8043)atC>atT	p.I2681I	PIEZO2_ENST00000580640.1_Silent_p.I2769I|PIEZO2_ENST00000285141.4_Silent_p.I536I|PIEZO2_ENST00000538948.1_Silent_p.I701I|PIEZO2_ENST00000503781.3_Silent_p.I2744I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2744						integral to membrane	ion channel activity										TAGTCCATTTGATCATTGTCT	0.328000													6	30					0	0	0.000157383	0	0
ELN	2006	broad.mit.edu	37	7	73474338	73474338	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:73474338G>A	ENST00000252034.7	+	23	1936	c.1537G>A	c.(1537-1539)Gtt>Att	p.V513I	ELN_ENST00000320492.7_Missense_Mutation_p.V432I|ELN_ENST00000357036.5_Missense_Mutation_p.V518I|ELN_ENST00000320399.6_Missense_Mutation_p.V513I|ELN_ENST00000358929.4_Missense_Mutation_p.V548I|ELN_ENST00000429192.1_Missense_Mutation_p.V499I|ELN_ENST00000380584.4_Missense_Mutation_p.V480I|ELN_ENST00000380575.4_Missense_Mutation_p.V484I|ELN_ENST00000445912.1_Missense_Mutation_p.V513I|ELN_ENST00000458204.1_Missense_Mutation_p.V503I|ELN_ENST00000414324.1_Missense_Mutation_p.V489I|ELN_ENST00000380576.5_Missense_Mutation_p.V494I|ELN_ENST00000380553.4_Missense_Mutation_p.V377I|ELN_ENST00000380562.4_Missense_Mutation_p.V519I|CTB-51J22.1_ENST00000435932.1_RNA	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	542	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGCTCCTGGCGTTGGCGTGGC	0.657000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						10	136					0	0	0.000673444	0	0
OR10A5	144124	broad.mit.edu	37	11	6867544	6867544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:6867544C>T	ENST00000299454.4	+	1	662	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	OR10A5_ENST00000379831.2_Missense_Mutation_p.P215S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGTCATGATCCCCTGCTTGCT	0.517000													32	103					0	0	0.000692331	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253837	81253837	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:81253837G>A	ENST00000599697.1	-	1	138	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	47	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGGAAGGTGCGTCCGAGTGGC	0.557000													9	58					0	0	0.000442599	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900268	34900268	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:34900268C>T	ENST00000246535.3	+	4	586	c.539C>T	c.(538-540)cCt>cTt	p.P180L	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	180						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CCTGTGCCTCCTGGGCTGCCG	0.582000													9	70					0	0	0.000442599	0	0
RTDR1	27156	broad.mit.edu	37	22	23476223	23476223	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:23476223C>T	ENST00000216036.4	-	4	607	c.411G>A	c.(409-411)caG>caA	p.Q137Q		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	137							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCTAGGCACCTGGACCAGCT	0.572000													5	31					0	0	0.00116845	0	0
LARGE	9215	broad.mit.edu	37	22	34046528	34046528	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:34046528G>A	ENST00000354992.2	-	4	804	c.233C>T	c.(232-234)gCc>gTc	p.A78V	LARGE_ENST00000397394.2_Missense_Mutation_p.A78V|LARGE_ENST00000402320.1_Missense_Mutation_p.A78V|LARGE_ENST00000337431.2_Missense_Mutation_p.A78V|LARGE_ENST00000437602.2_Missense_Mutation_p.A78V|LARGE_ENST00000462606.1_5'UTR	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	78					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCTGCGGAGGGCGCGGTTCTC	0.697000													12	39					0	0	0.000978159	0	0
RDH12	145226	broad.mit.edu	37	14	68196002	68196002	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:68196002C>T	ENST00000551171.1	+	8	1077	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RDH12_ENST00000267502.3_Silent_p.F251F|RDH12_ENST00000539142.1_Silent_p.F251F	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	251					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GGCGGCTCTTCTCCCCCTTTG	0.682000													9	77					0	0	0.000274275	0	0
VPS13D	55187	broad.mit.edu	37	1	12353695	12353695	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:12353695C>T	ENST00000358136.3	+	24	6097	c.5967C>T	c.(5965-5967)ttC>ttT	p.F1989F	VPS13D_ENST00000356315.4_Silent_p.F1989F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1989					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGTGGCCTTCATTCAGCATT	0.582000													14	54					0	0	0.000566183	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202403814	202403814	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:202403814C>T	ENST00000406302.3	+	9	1325	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	PPP1R12B_ENST00000356764.2_Intron|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S391F|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.S391F	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	391					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCAATCATTCCAACTCTGAA	0.368000													17	58					0	0	0.000958276	0	0
PAPPA	5069	broad.mit.edu	37	9	119106879	119106879	+	Silent	SNP	T	T	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:119106879T>G	ENST00000328252.3	+	14	4038	c.3669T>G	c.(3667-3669)gcT>gcG	p.A1223A	PAPPA_ENST00000534838.1_Silent_p.A261A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1223	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGGAGAATGCTTCTCTCAATT	0.572000													13	81					0	0	0.000219431	0	0
CACNG3	10368	broad.mit.edu	37	16	24268231	24268231	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:24268231G>A	ENST00000005284.3	+	1	1358	c.156G>A	c.(154-156)agG>agA	p.R52R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	52					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AAACCAGCAGGAAGAATGAAG	0.438000													10	58					0	0	0.000673444	0	0
OR1K1	392392	broad.mit.edu	37	9	125563032	125563032	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:125563032C>T	ENST00000277309.2	+	1	663	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGTGGTCACTCCCTTCCTGCT	0.637000													6	49					0	0	0.00116845	0	0
IGHG1	3500	broad.mit.edu	37	14	106204123	106204123	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:106204123C>T	ENST00000390548.2	-	0	1175																											CGATCATGTTCCTGTAGTCGG	0.647000													7	25					0	0	0.000157383	0	0
NBEA	26960	broad.mit.edu	37	13	36229105	36229105	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:36229105G>A	ENST00000540320.1	+	53	8620	c.8086G>A	c.(8086-8088)Gga>Aga	p.G2696R	NBEA_ENST00000310336.4_Missense_Mutation_p.G2696R|NBEA_ENST00000537702.1_Missense_Mutation_p.G489R|NBEA_ENST00000379922.3_Missense_Mutation_p.G274R|NBEA_ENST00000379939.2_Missense_Mutation_p.G2693R|NBEA_ENST00000400445.3_Missense_Mutation_p.G2696R			Q8NFP9	NBEA_HUMAN	neurobeachin	2696						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTTATCTGTGGATTCTGGGA	0.358000													5	18					0	0	8.12818e-05	0	0
OR1L8	138881	broad.mit.edu	37	9	125330724	125330724	+	Silent	SNP	G	G	A	rs41305505		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:125330724G>A	ENST00000304865.2	-	1	114	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATAAACTCGGAGACACTGC	0.458000													4	37					0	0	0.00024832	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805855	20805855	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:20805855C>T	ENST00000577537.1	+	0	1039				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							TGACAAAGTCCCAGGTCTCAT	0.522000													6	27					0	0	0.00116845	0	0
MAT2A	4144	broad.mit.edu	37	2	85770071	85770071	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:85770071C>T	ENST00000306434.3	+	8	1122	c.999C>T	c.(997-999)ttC>ttT	p.F333F	MAT2A_ENST00000409017.1_Silent_p.F270F	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	333					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCATTTTCCATTATGGTA	0.388000													19	99					0	0	0.000958276	0	0
HNRNPM	4670	broad.mit.edu	37	19	8531250	8531250	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:8531250C>T	ENST00000348943.3	+	8	877	c.645C>T	c.(643-645)tcC>tcT	p.S215S	HNRNPM_ENST00000325495.4_Silent_p.S254S	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	254	RRM 2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TTGAACAGTCCATTGAAGCTG	0.398000													12	79					0	0	0.00136819	0	0
PPFIA4	8497	broad.mit.edu	37	1	203037611	203037611	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:203037611T>C	ENST00000367240.2	+	26	3643	c.3116T>C	c.(3115-3117)gTt>gCt	p.V1039A	PPFIA4_ENST00000414050.2_Missense_Mutation_p.V767A|PPFIA4_ENST00000295706.4_Missense_Mutation_p.V545A|PPFIA4_ENST00000599966.1_Missense_Mutation_p.V545A|PPFIA4_ENST00000272198.6_Missense_Mutation_p.V554A|PPFIA4_ENST00000447715.2_Missense_Mutation_p.V1038A			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	554					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GACCAGGTGGTTCATTGGGTC	0.552000													3	22					0	0	6.4e-05	0	0
TRIM15	89870	broad.mit.edu	37	6	30137018	30137018	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:30137018G>A	ENST00000376694.4	+	4	1178	c.708_splice	c.e4-1	p.D237_splice	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	237					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCTTTTGCAGGATGTCAGAGT	0.463000													15	50					0	0	0.000566183	0	0
OR13A1	79290	broad.mit.edu	37	10	45799868	45799868	+	Translation_Start_Site	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:45799868C>T	ENST00000553795.1	-	4	311	c.3G>A	c.(1-3)atG>atA	p.M1I	OR13A1_ENST00000536058.1_Start_Codon_SNP_p.M1I|OR13A1_ENST00000374401.2_Start_Codon_SNP_p.M1I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCCACAGCTTCATGTGATTTC	0.502000													9	59					0	0	0.000978159	0	0
NLRP8	126205	broad.mit.edu	37	19	56467445	56467445	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:56467445C>A	ENST00000291971.3	+	3	2092	c.2021C>A	c.(2020-2022)tCc>tAc	p.S674Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.S674Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	674						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGCTCAGCTCCAGCTCCCAT	0.552000													14	45					2.48551e-13	1.61321e-12	0.000566183	1	0
TRAV18	28665	broad.mit.edu	37	14	22471648	22471648	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:22471648C>T	ENST00000390446.3	+	0	176																											GACTCGGTTACCCAGACAGAA	0.458000													9	46					0	0	0.000978159	0	0
TRPV2	51393	broad.mit.edu	37	17	16335507	16335507	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:16335507G>C	ENST00000338560.7	+	12	2281	c.1882G>C	c.(1882-1884)Gcc>Ccc	p.A628P	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.A198P	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	628					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCTGCTGCTGGCCTACGTGCT	0.597000													6	46					0	0	0.00116845	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886157	30886157	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:30886157G>A	ENST00000392772.2	-	12	1317	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Silent_p.P386P|SEC14L4_ENST00000540456.1_Silent_p.P371P			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	0	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGCCTTGTCGGGAAGCAGCA	0.582000													9	37					0	0	0.00136819	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:102292820G>C	ENST00000561463.1	+	0	866																		p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592000													3	7					0	0	0.00024832	0	0
KRT34	3885	broad.mit.edu	37	17	39535638	39535638	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39535638G>A	ENST00000394001.1	-	5	999	c.969C>T	c.(967-969)gcC>gcT	p.A323A		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	323	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CGATCTCCAGGGCGTTGACTG	0.587000													5	50					0	0	8.12818e-05	0	0
CACNA1A	773	broad.mit.edu	37	19	13445289	13445289	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:13445289C>T	ENST00000360228.5	-	8	1100	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	CACNA1A_ENST00000573710.2_Silent_p.R367R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	367					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCACCCGTTCCCTTTCTTTGG	0.483000													10	46					0	0	0.000673444	0	0
COPB2	9276	broad.mit.edu	37	3	139090653	139090653	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:139090653C>A	ENST00000333188.5	-	10	1298	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	COPB2_ENST00000507777.1_Missense_Mutation_p.G344W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	373					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATATACTCCCCATCACCACAC	0.433000													5	54					0.00116845	0.00740223	0.00116845	1	0
SLC6A13	6540	broad.mit.edu	37	12	369077	369077	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:369077C>T	ENST00000343164.4	-	2	194	c.142G>A	c.(142-144)Gag>Aag	p.E48K	SLC6A13_ENST00000436453.1_Missense_Mutation_p.E48K|SLC6A13_ENST00000445055.2_Missense_Mutation_p.E48K	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	48					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CCAATGATCTCCCCAGCCACT	0.537000													22	114					0	0	0.000720815	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102514	87102514	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:87102514C>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							GGGCCCATCTCCGGTGGGGAG	0.368000													13	66					0	0	0.000308642	0	0
KCNA6	3742	broad.mit.edu	37	12	4919974	4919974	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:4919974G>A	ENST00000433855.1	+	1	1633	c.767G>A	c.(766-768)gGc>gAc	p.G256D	KCNA6_ENST00000280684.3_Missense_Mutation_p.G256D	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	256						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						ACTCTTGGGGGCTCCTTCTTT	0.562000										HNSCC(72;0.22)			12	77					0	0	0.000978159	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798432	55798432	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:55798432G>A	ENST00000313555.1	+	1	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTTTTTCTGTGATATCCCACC	0.443000													30	135					0	0	0.00178596	0	0
CCDC19	25790	broad.mit.edu	37	1	159863029	159863029	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:159863029G>A	ENST00000368099.4	-	2	134	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	24						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTCCGATAGCGAGCCTTATTC	0.517000													17	105					0	0	0.000422831	0	0
DNAH3	55567	broad.mit.edu	37	16	20974825	20974825	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:20974825G>A	ENST00000261383.3	-	53	10380	c.10381C>T	c.(10381-10383)Cct>Tct	p.P3461S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3461					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAAGACCCAGGGAGTTGCTCC	0.532000													10	35					0	0	0.000673444	0	0
H2AFX	3014	broad.mit.edu	37	11	118965752	118965752	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:118965752G>A	ENST00000530167.1	-	1	425	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	118					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GGTCTTCTTGGGCAGCAGCAC	0.711000								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	43					0	0	0.00152264	0	0
TMEM132B	114795	broad.mit.edu	37	12	126003993	126003993	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:126003993G>A	ENST00000299308.3	+	4	1108	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	367						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGTAAATGGATCCTTCTAT	0.413000													8	79					0	0	0.000442599	0	0
TPGS2	25941	broad.mit.edu	37	18	34387862	34387862	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:34387862G>T	ENST00000334295.4	-	3	628	c.201C>A	c.(199-201)aaC>aaA	p.N67K	TPGS2_ENST00000589049.1_Missense_Mutation_p.N67K|TPGS2_ENST00000590842.1_Missense_Mutation_p.N67K|TPGS2_ENST00000593035.1_Missense_Mutation_p.N67K|TPGS2_ENST00000587129.1_Missense_Mutation_p.N67K|TPGS2_ENST00000383056.3_Missense_Mutation_p.N67K	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	67						cytoplasm|microtubule											TCAGGTAAAAGTTCTTCACAT	0.463000													9	70					1.12685e-05	7.25448e-05	0.000274275	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				27	47					0	0	0.00127121	0	0
FLRT3	23767	broad.mit.edu	37	20	14307372	14307372	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:14307372G>A	ENST00000378053.3	-	2	1037	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R261W|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	261					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GGGGGCACCCGATTGATGTGG	0.443000													7	64					0	0	8.12818e-05	0	0
SLC6A14	11254	broad.mit.edu	37	X	115577962	115577962	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:115577962G>A	ENST00000371900.4	+	7	933	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	282					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CTGTTAGTACGAGGTGCAACT	0.363000													27	41					0	0	0.00178596	0	0
C2CD3	26005	broad.mit.edu	37	11	73804914	73804914	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:73804914G>A	ENST00000334126.7	-	18	3517	c.3291C>T	c.(3289-3291)ttC>ttT	p.F1097F	C2CD3_ENST00000313663.7_Silent_p.F1097F			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1097						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCTGTGCAGAGAAAGCACTTA	0.522000													5	25					0	0	0.000602214	0	0
FKBP6	8468	broad.mit.edu	37	7	72755321	72755321	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:72755321G>A	ENST00000252037.4	+	7	902	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	FKBP6_ENST00000413573.2_Missense_Mutation_p.R248Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R273Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	278					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTTCTAGTTCGAGCCCAGAAG	0.458000													12	155					0	0	0.00185496	0	0
FHDC1	85462	broad.mit.edu	37	4	153896921	153896921	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:153896921C>T	ENST00000511601.1	+	12	2666	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S	FHDC1_ENST00000260008.3_Silent_p.S826S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	826					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACCCTACATCCAGCCCCCCTG	0.642000													16	62					0	0	0.000308642	0	0
CDHR2	54825	broad.mit.edu	37	5	176011785	176011785	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:176011785G>A	ENST00000510636.1	+	19	2777	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N	CDHR2_ENST00000506348.1_Missense_Mutation_p.D835N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D835N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	835	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGTTGCCTCGGATGTGGACAC	0.612000													18	59					0	0	0.000958276	0	0
NPTX2	4885	broad.mit.edu	37	7	98254310	98254310	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:98254310C>T	ENST00000265634.3	+	3	885	c.720C>T	c.(718-720)atC>atT	p.I240I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	240	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACGGCAAGATCAAGAAGACGC	0.592000													35	108					0	0	0.00111076	0	0
HMCN1	83872	broad.mit.edu	37	1	186088406	186088406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:186088406C>T	ENST00000271588.4	+	78	12161	c.11932C>T	c.(11932-11934)Cga>Tga	p.R3978*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R3978*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3978	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCTGCACATCGACACGTGAC	0.413000													31	77					0	0	0.000814825	0	0
IFLTD1	160492	broad.mit.edu	37	12	25679737	25679737	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:25679737G>A	ENST00000539744.1	-	5	769	c.290C>T	c.(289-291)cCa>cTa	p.P97L	IFLTD1_ENST00000282881.6_Missense_Mutation_p.P194L|IFLTD1_ENST00000445693.1_Missense_Mutation_p.P131L|IFLTD1_ENST00000458174.2_Missense_Mutation_p.P215L|IFLTD1_ENST00000413632.2_Missense_Mutation_p.P215L	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	194						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TACGATGTTTGGAAGGAATCG	0.368000													9	55					0	0	0.000673444	0	0
CHGB	1114	broad.mit.edu	37	20	5904399	5904399	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:5904399G>A	ENST00000378961.4	+	4	1813	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	537						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAGCCATTTTGAAAGAAGAGA	0.428000													21	36					0	0	0.00188189	0	0
YLPM1	56252	broad.mit.edu	37	14	75248353	75248353	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:75248353C>T	ENST00000325680.7	+	4	1731	c.1607C>T	c.(1606-1608)cCa>cTa	p.P536L	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.P536L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGCCCCCTCCAGTGTTGCCT	0.532000													20	82					0	0	0.000295444	0	0
KCNK10	54207	broad.mit.edu	37	14	88652025	88652025	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:88652025C>T	ENST00000340700.5	-	7	1922	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	KCNK10_ENST00000312350.5_Missense_Mutation_p.E496K|KCNK10_ENST00000319231.5_Missense_Mutation_p.E496K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	491					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACATCTTTTCCGTCTCCTCC	0.502000													7	65					0	0	0.000157383	0	0
KL	9365	broad.mit.edu	37	13	33638084	33638084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr13:33638084C>T	ENST00000380099.3	+	5	2808	c.2800C>T	c.(2800-2802)Cag>Tag	p.Q934*	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	934	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TGCTGCAGATCAGTTTGAGCC	0.448000													17	99					0	0	0.000566183	0	0
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:72081809T>C	ENST00000438125.1	-	0	1246							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAACTTTCTCTGCAGTAGGTA	0.498000													6	66					0	0	0.000157383	0	0
CDH18	1016	broad.mit.edu	37	5	19473773	19473773	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:19473773G>A	ENST00000507958.1	-	15	2925	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	CDH18_ENST00000382275.1_Silent_p.I645I|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000274170.4_Silent_p.I645I|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	645					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTCTGAAATGATCAAGGGCT	0.453000													31	102					0	0	0.00058488	0	0
TPGS2	25941	broad.mit.edu	37	18	34387863	34387863	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr18:34387863T>C	ENST00000334295.4	-	3	627	c.200A>G	c.(199-201)aAc>aGc	p.N67S	TPGS2_ENST00000589049.1_Missense_Mutation_p.N67S|TPGS2_ENST00000590842.1_Missense_Mutation_p.N67S|TPGS2_ENST00000593035.1_Missense_Mutation_p.N67S|TPGS2_ENST00000587129.1_Missense_Mutation_p.N67S|TPGS2_ENST00000383056.3_Missense_Mutation_p.N67S	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	67						cytoplasm|microtubule											CAGGTAAAAGTTCTTCACATC	0.463000													9	71					0	0	0.000274275	0	0
SIM1	6492	broad.mit.edu	37	6	100838556	100838556	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:100838556G>A	ENST00000369208.3	-	12	2764	c.1982C>T	c.(1981-1983)cCc>cTc	p.P661L	SIM1_ENST00000262901.4_Missense_Mutation_p.P661L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	661	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCCGAATTGGGACTACTTAT	0.458000													10	164					0	0	0.000442599	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908307	158908307	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:158908307G>A	ENST00000368140.1	+	3	631	c.386G>A	c.(385-387)gGa>gAa	p.G129E	PYHIN1_ENST00000392252.3_Missense_Mutation_p.G120E|PYHIN1_ENST00000368138.3_Missense_Mutation_p.G120E|PYHIN1_ENST00000392254.2_Missense_Mutation_p.G129E|PYHIN1_ENST00000368135.4_Missense_Mutation_p.G129E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	129					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACAGCTAAAGGAGCAGAGGAG	0.488000													6	37					0	0	0.000157383	0	0
PER1	5187	broad.mit.edu	37	17	8051324	8051324	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:8051324G>A	ENST00000317276.4	-	10	1462	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	PER1_ENST00000581082.1_Missense_Mutation_p.H389Y|PER1_ENST00000354903.5_Missense_Mutation_p.H393Y	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	409	PAS 2.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTCTTGTGGATAGCCAGC	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					4	9					0	0	0.00024832	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060335	35060335	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:35060335C>T	ENST00000373913.3	+	3	695	c.215C>T	c.(214-216)cCc>cTc	p.P72L	DLGAP4_ENST00000373907.2_Missense_Mutation_p.P72L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P72L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P72L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	72					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGCACCTTTCCCCGCATCCAC	0.667000													10	29					0	0	0.000442599	0	0
DENND1A	57706	broad.mit.edu	37	9	126520023	126520023	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:126520023G>A	ENST00000373624.2	-	5	462	c.261C>T	c.(259-261)tgC>tgT	p.C87C	DENND1A_ENST00000394215.2_Silent_p.C57C|DENND1A_ENST00000373618.1_Silent_p.C55C|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.C87C|DENND1A_ENST00000394219.3_Silent_p.C55C	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	87	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAGATAAGCGGCAGAACCCGA	0.488000													6	35					0	0	0.00116845	0	0
FUBP3	8939	broad.mit.edu	37	9	133495798	133495798	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:133495798G>A	ENST00000319725.9	+	9	799	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	242					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGACTTTCGGGGTGTACGCGG	0.408000													16	83					0	0	0.000422831	0	0
FAM159A	348378	broad.mit.edu	37	1	53122470	53122470	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:53122470G>A	ENST00000517870.1	+	3	481	c.331G>A	c.(331-333)Gag>Aag	p.E111K	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	111						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCCCTGAGGAGGTTTCTCC	0.562000													20	63					0	0	0.000295444	0	0
CXCL12	6387	broad.mit.edu	37	10	44871439	44871439	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:44871439C>T	ENST00000374426.2	-	4	345	c.308G>A	c.(307-309)gGa>gAa	p.G103E	CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTTCTTTTTTCCTATCTTTTC	0.408000													37	359					0	0	0.000509022	0	0
PASK	23178	broad.mit.edu	37	2	242072321	242072321	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:242072321G>A	ENST00000403638.3	-	9	1522	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	PASK_ENST00000405260.1_Silent_p.L477L|PASK_ENST00000234040.4_Silent_p.L477L|PASK_ENST00000539818.1_Silent_p.L261L|PASK_ENST00000358649.4_Silent_p.L477L|PASK_ENST00000544142.1_Silent_p.L291L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	477					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGCAGGAAAGGAGCTGGCCTC	0.552000													9	37					0	0	0.000442599	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227239679	227239679	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:227239679G>A	ENST00000366766.2	-	22	3854	c.2912C>T	c.(2911-2913)cCc>cTc	p.P971L	CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000334218.5_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366769.3_Intron			Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	968					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GTTCTCAACGGGATCAGTCTA	0.418000													16	41					0	0	0.000422831	0	0
FAT4	79633	broad.mit.edu	37	4	126373774	126373774	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:126373774C>T	ENST00000394329.3	+	9	11616	c.11603C>T	c.(11602-11604)cCa>cTa	p.P3868L	FAT4_ENST00000335110.5_Missense_Mutation_p.P2166L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3868	EGF-like 2; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAATGTCTTCCATCACCTTGC	0.483000													5	30					0	0	0.00116845	0	0
BBS1	582	broad.mit.edu	37	11	66283032	66283032	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:66283032C>T	ENST00000419755.3	+	5	643	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	BBS1_ENST00000455748.2_Intron|BBS1_ENST00000393994.2_Silent_p.L152L|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Silent_p.L152L|BBS1_ENST00000537537.1_Intron																							CCCCTTAACCCTGAAGGAGAT	0.577000													6	45					0	0	8.12818e-05	0	0
OR8A1	390275	broad.mit.edu	37	11	124440012	124440012	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:124440012G>A	ENST00000284287.3	+	1	120	c.48G>A	c.(46-48)agG>agA	p.R16R		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCACCCAGAGGAGAATGGCTG	0.512000													6	31					0	0	0.00116845	0	0
TLR5	7100	broad.mit.edu	37	1	223286174	223286174	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:223286174G>A	ENST00000540964.1	-	4	661	c.200C>T	c.(199-201)cCc>cTc	p.P67L	TLR5_ENST00000342210.6_Missense_Mutation_p.P67L			O60602	TLR5_HUMAN	toll-like receptor 5	67					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTCCAGAAAGGGGAAGGATGA	0.542000													11	57					0	0	0.000673444	0	0
AKAP6	9472	broad.mit.edu	37	14	33293351	33293351	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:33293351C>T	ENST00000280979.4	+	13	6502	c.6332C>T	c.(6331-6333)tCg>tTg	p.S2111L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2111					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTTTTATTCGTACTTATCT	0.463000													13	60					0	0	0.00136819	0	0
FSTL5	56884	broad.mit.edu	37	4	162508718	162508718	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:162508718C>T	ENST00000306100.5	-	8	1340	c.904G>A	c.(904-906)Gat>Aat	p.D302N	FSTL5_ENST00000536695.1_Missense_Mutation_p.D301N|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.D301N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D301N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	302	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACCCATCATCTCCAAAGTCC	0.323000													5	64					0	0	0.000602214	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987855	45987855	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr21:45987855G>A	ENST00000323084.4	-	2	182	c.117C>T	c.(115-117)gtC>gtT	p.V39V	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	39					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CATCAGAAGGGACCACTTCCG	0.607000													9	30					0	0	0.000673444	0	0
AK7	122481	broad.mit.edu	37	14	96916165	96916165	+	Silent	SNP	G	G	A	rs140878553	byFrequency	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:96916165G>A	ENST00000267584.4	+	9	941	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	299					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTGGCCCTGGGAAAATCCAGA	0.333000													8	32					0	0	0.000673444	0	0
SERPINA3	12	broad.mit.edu	37	14	95088730	95088730	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:95088730C>T	ENST00000553947.1	+	7	1933	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	SERPINA3_ENST00000467132.1_Silent_p.L324L|SERPINA3_ENST00000482740.1_Silent_p.L106L|SERPINA3_ENST00000393080.4_Silent_p.L324L|SERPINA3_ENST00000393078.3_Silent_p.L324L|SERPINA3_ENST00000556388.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	324					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGACTATAACCTGAACGACAT	0.498000													8	51					0	0	0.000673444	0	0
OR13C4	138804	broad.mit.edu	37	9	107289152	107289152	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:107289152G>A	ENST00000277216.3	-	1	338	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGCCAAGGAGGAAACATTCTG	0.443000													9	79					0	0	0.000442599	0	0
GCFC2	6936	broad.mit.edu	37	2	75929383	75929383	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:75929383C>G	ENST00000321027.3	-	3	694	c.561G>C	c.(559-561)aaG>aaC	p.K187N	GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.K187N|GCFC2_ENST00000470503.1_Missense_Mutation_p.K187N	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	187					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										ATGGTATTCTCTTTTCATGGT	0.373000													14	96					0	0	0.000422831	0	0
MAST4	375449	broad.mit.edu	37	5	66427663	66427663	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:66427663G>A	ENST00000404260.3	+	16	2294	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	MAST4_ENST00000261569.7_Missense_Mutation_p.M465I|MAST4_ENST00000403625.2_Missense_Mutation_p.M659I|MAST4_ENST00000405643.1_Missense_Mutation_p.M480I|MAST4_ENST00000403666.1_Missense_Mutation_p.M470I			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	662	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTACTTTAATGAAAAACATGG	0.398000													16	53					0	0	0.000566183	0	0
RYR3	6263	broad.mit.edu	37	15	34118875	34118875	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:34118875G>A	ENST00000389232.4	+	84	11237	c.11167G>A	c.(11167-11169)Gaa>Aaa	p.E3723K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3718K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3723					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)		TTTTCAAGGTGAAAAAGTACT	0.403000													20	150					0	0	0.00152264	0	0
GFRAL	389400	broad.mit.edu	37	6	55266587	55266587	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:55266587G>A	ENST00000340465.2	+	9	1207		c.e9-1			NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like							integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTTTATACAGAACTTCCAGA	0.368000													7	36					0	0	0.000157383	0	0
SYNE1	23345	broad.mit.edu	37	6	152644639	152644639	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:152644639G>A	ENST00000367255.5	-	82	16492	c.15891C>T	c.(15889-15891)atC>atT	p.I5297I	SYNE1_ENST00000448038.1_Silent_p.I5226I|SYNE1_ENST00000423061.1_Silent_p.I5226I|SYNE1_ENST00000265368.4_Silent_p.I5297I|SYNE1_ENST00000341594.5_Silent_p.I4990I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5297					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATGGCGGTGATTTCCTGCA	0.557000										HNSCC(10;0.0054)			14	55					0	0	0.000308642	0	0
FGF13	2258	broad.mit.edu	37	X	137785196	137785196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:137785196G>A	ENST00000315930.6	-	3	1013	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	FGF13_ENST00000441825.2_Nonsense_Mutation_p.Q99*|FGF13_ENST00000370603.3_Nonsense_Mutation_p.Q128*|FGF13_ENST00000305414.4_Nonsense_Mutation_p.Q65*|FGF13_ENST00000541469.1_Nonsense_Mutation_p.Q72*	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	118					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTTGGTTTGAACTCCTTGG	0.398000													23	36					0	0	0.000720815	0	0
OR5H6	79295	broad.mit.edu	37	3	97983956	97983956	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:97983956G>A	ENST00000383696.2	+	1	869	c.828G>A	c.(826-828)ctG>ctA	p.L276L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAAATATCTGGGCTCTGCAT	0.423000													8	25					0	0	0.000157383	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838466	16838466	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:16838466G>A	ENST00000355661.3	-	11	1757	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P583S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P583S|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	583	Interaction with CTNND1.|Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGCCGGGGTGGGAAGACCCTT	0.662000													8	34					0	0	0.000673444	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008250	32008250	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:32008250C>T	ENST00000418967.2	+	8	1165	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	CYP21A2_ENST00000435122.2_Missense_Mutation_p.P306L	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	335					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						TCCCGGGTCCCCTACAAGGAC	0.667000													20	124					0	0	0.000375601	0	0
KRT34	3885	broad.mit.edu	37	17	39538267	39538267	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39538267C>T	ENST00000394001.1	-	1	388	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	120	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TTGTCCCGCTCCAGCTGACGC	0.592000													11	78					0	0	0.000673444	0	0
MPP5	64398	broad.mit.edu	37	14	67745903	67745903	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:67745903A>C	ENST00000261681.4	+	3	677	c.16A>C	c.(16-18)Atg>Ctg	p.M6L	MPP5_ENST00000555925.1_Intron|MPP5_ENST00000556345.1_Missense_Mutation_p.M6L	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	6					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AACATCCCATATGAATGGGCA	0.373000													3	23					0	0	0.00024832	0	0
CARS	833	broad.mit.edu	37	11	3063454	3063454	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:3063454G>A	ENST00000380525.4	-	3	376	c.307C>T	c.(307-309)Cct>Tct	p.P103S	CARS_ENST00000401769.3_Missense_Mutation_p.P33S|CARS_ENST00000397114.3_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.P20S|CARS_ENST00000397111.5_Missense_Mutation_p.P20S	NM_001014437.2|NM_001194997.1	NP_001014437.1|NP_001181926.1	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	20					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CCAGCAGGAGGGGACCACTGG	0.617000			T	ALK	ALCL								11	61					0	0	0.00136819	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147175	52147175	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:52147175C>T	ENST00000360844.6	-	5	910	c.869G>A	c.(868-870)gGa>gAa	p.G290E	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	290	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGGCTTTTCCCTCCCGGAA	0.597000													5	18					0	0	0.000157383	0	0
CAD	790	broad.mit.edu	37	2	27446824	27446824	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:27446824T>G	ENST00000264705.4	+	8	1197	c.1035T>G	c.(1033-1035)gaT>gaG	p.D345E	CAD_ENST00000403525.1_Missense_Mutation_p.D345E	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	345	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCCCTTCAGATATGGAACTGC	0.507000													35	180					0	0	0.000437636	0	0
NPAP1	23742	broad.mit.edu	37	15	24921893	24921893	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:24921893G>A	ENST00000329468.2	+	1	1353	c.879G>A	c.(877-879)ccG>ccA	p.P293P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P293P(1)									TAGGCTTGCCGATTCCGCTGA	0.622000													16	56					0	0	0.000958276	0	0
TMC5	79838	broad.mit.edu	37	16	19490792	19490792	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:19490792C>T	ENST00000396229.2	+	14	2958	c.2209C>T	c.(2209-2211)Ctt>Ttt	p.L737F	TMC5_ENST00000564959.1_Missense_Mutation_p.L420F|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.L378F|TMC5_ENST00000542583.2_Missense_Mutation_p.L737F|TMC5_ENST00000541464.1_Missense_Mutation_p.L685F|TMC5_ENST00000219821.5_Missense_Mutation_p.L491F|TMC5_ENST00000381414.4_Missense_Mutation_p.L737F	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	737						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTACCGGCTCCTTCTGATGGA	0.483000													27	184					0	0	0.00178596	0	0
GPR137C	283554	broad.mit.edu	37	14	53099010	53099010	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:53099010G>A	ENST00000321662.6	+	4	850	c.850G>A	c.(850-852)Gat>Aat	p.D284N		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	284						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTATGGCTGGGATAATCTTTC	0.368000													10	64					0	0	0.000978159	0	0
PTK6	5753	broad.mit.edu	37	20	62168598	62168598	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr20:62168598C>T	ENST00000217185.2	-	1	97	c.70G>A	c.(70-72)Gac>Aac	p.D24N	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	24	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGCTCCTCGTCCGTCCGGGAC	0.711000													5	9					0	0	8.12818e-05	0	0
COL7A1	1294	broad.mit.edu	37	3	48629399	48629399	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:48629399G>A	ENST00000328333.8	-	10	1396	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S430F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	430	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGGAGGATGGATGTGGGGCC	0.657000													20	78					0	0	0.000375601	0	0
CBLL1	79872	broad.mit.edu	37	7	107393930	107393930	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:107393930C>T	ENST00000440859.2	+	3	723	c.256C>T	c.(256-258)Cct>Tct	p.P86S	CBLL1_ENST00000222597.2_Missense_Mutation_p.P85S|CBLL1_ENST00000415884.2_Missense_Mutation_p.P86S	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	86					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GCGAAGATTTCCTGGACACCT	0.284000													22	39					0	0	0.00047179	0	0
FAM160A2	84067	broad.mit.edu	37	11	6236022	6236022	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:6236022G>A	ENST00000265978.4	-	10	2735	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	FAM160A2_ENST00000449352.2_Missense_Mutation_p.R779C|FAM160A2_ENST00000529360.1_5'UTR	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	779					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAAAGAGCGGAGCAGGGGC	0.602000													7	30					0	0	0.000274275	0	0
GPR112	139378	broad.mit.edu	37	X	135428902	135428902	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:135428902C>T	ENST00000394143.1	+	6	3328	c.3037C>T	c.(3037-3039)Cat>Tat	p.H1013Y	GPR112_ENST00000287534.4_Missense_Mutation_p.H950Y|GPR112_ENST00000412101.1_Missense_Mutation_p.H808Y|GPR112_ENST00000394141.1_Missense_Mutation_p.H808Y|GPR112_ENST00000370652.1_Missense_Mutation_p.H1013Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1013					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCCTGTTACTCATATGTTCTC	0.507000													18	35					0	0	0.00152264	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805856	20805856	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:20805856C>T	ENST00000577537.1	+	0	1040				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							GACAAAGTCCCAGGTCTCATC	0.522000													6	28					0	0	0.00116845	0	0
CDH9	1007	broad.mit.edu	37	5	26881418	26881418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:26881418C>T	ENST00000231021.4	-	12	2369	c.2197G>A	c.(2197-2199)Gat>Aat	p.D733N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	733					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCAGCGAATCATATGGAGGT	0.413000													11	24					0	0	0.000673444	0	0
BUB1B	701	broad.mit.edu	37	15	40494609	40494609	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:40494609C>T	ENST00000287598.6	+	13	1766	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	BUB1B_ENST00000412359.3_Missense_Mutation_p.P538L	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCTCTAGGTCCCAGTGTACCT	0.303000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				11	53					0	0	0.000978159	0	0
CYBB	1536	broad.mit.edu	37	X	37670055	37670055	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:37670055G>A	ENST00000378588.4	+	13	1665	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E	CYBB_ENST00000545017.1_Missense_Mutation_p.G501E|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.G266E	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	533					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ACCAGAATAGGAGTTTTCCTC	0.438000													5	13					0	0	8.12818e-05	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16837726	16837726	+	Splice_Site	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:16837726G>A	ENST00000355661.3	-	12	1962	c.1953_splice	c.e12+1	p.S651_splice	PLEKHA7_ENST00000531066.1_Splice_Site_p.S651_splice|PLEKHA7_ENST00000448080.2_Splice_Site_p.S651_splice|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	651	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCACCCTACCGATTTTCCATG	0.502000													12	31					0	0	0.00136819	0	0
OR8H3	390152	broad.mit.edu	37	11	55890127	55890127	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:55890127C>T	ENST00000313472.3	+	1	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTATATTTCCTTCACGGGCT	0.423000													52	206					0	0	0.000781405	0	0
ARAP2	116984	broad.mit.edu	37	4	36163141	36163141	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:36163141G>A	ENST00000303965.4	-	12	2694	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	735	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTAACCTTGGAATCTTTTG	0.348000													8	48					0	0	0.000274275	0	0
NLRP8	126205	broad.mit.edu	37	19	56459349	56459349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:56459349G>A	ENST00000291971.3	+	1	152	c.81G>A	c.(79-81)tgG>tgA	p.W27*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.W27*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	27						cytoplasm	ATP binding	p.W27C(2)|p.W27*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCGCCCTGGACATTCTCTT	0.512000													5	67					0	0	0.00116845	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465507	79465507	+	Silent	SNP	C	C	T	rs142442874	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:79465507C>T	ENST00000376718.3	-	3	339	c.216G>A	c.(214-216)acG>acA	p.T72T	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.T72T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	72					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAATAAACCTCGTCTCGGTGA	0.388000													15	135					0	0	0.000958276	0	0
ARSJ	79642	broad.mit.edu	37	4	114824400	114824400	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:114824400C>T	ENST00000315366.7	-	2	1696	c.830G>A	c.(829-831)aGg>aAg	p.R277K	ARSJ_ENST00000541197.1_Missense_Mutation_p.R277K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	277						extracellular region	arylsulfatase activity|metal ion binding	p.R277K(1)|p.R277M(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCGAAATACCTGCCAGGAGC	0.423000													5	63					0	0	0.000602214	0	0
MGAM	8972	broad.mit.edu	37	7	141740608	141740608	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:141740608C>T	ENST00000475668.2	+	21	2514	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	MGAM_ENST00000549489.2_Silent_p.I820I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	820	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGGCTACATCTTCCCCACAC	0.478000													4	36					0	0	0.00024832	0	0
INTS4P2	644619	broad.mit.edu	37	7	65154345	65154345	+	RNA	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:65154345G>A	ENST00000430126.2	+	0	829																											CCAAAGAAGGGATTCATCTTG	0.363000													7	23					0	0	0.000274275	0	0
FNTB	2342	broad.mit.edu	37	14	65470996	65470996	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:65470996C>T	ENST00000246166.2	+	2	408	c.174C>T	c.(172-174)gtC>gtT	p.V58V	CHURC1-FNTB_ENST00000542227.1_Silent_p.V12V|CHURC1-FNTB_ENST00000447296.2_Silent_p.V92V|FNTB_ENST00000555742.1_3'UTR	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TCCAAGAGGTCTTCAGTTCTT	0.443000													22	142					0	0	0.000586117	0	0
RBM25	58517	broad.mit.edu	37	14	73578259	73578259	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:73578259C>A	ENST00000261973.7	+	16	2326	c.2041C>A	c.(2041-2043)Cct>Act	p.P681T	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.P681T	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	681					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCCTGGTCAGCCTAATTCTGT	0.388000													9	67					1.58986e-06	1.0263e-05	0.000673444	1	0
ADCK2	90956	broad.mit.edu	37	7	140374464	140374464	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:140374464G>A	ENST00000072869.4	+	2	1165	c.987G>A	c.(985-987)aaG>aaA	p.K329K	ADCK2_ENST00000476491.1_Silent_p.K329K	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	329	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGCTGATGAAGATTGGCAGCC	0.532000													18	39					0	0	0.00074312	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483833	102483833	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:102483833C>T	ENST00000360184.4	+	40	8333	c.8169C>T	c.(8167-8169)ctC>ctT	p.L2723L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2723	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAAGCCCCTCTCACACAGGT	0.498000													15	58					0	0	0.000308642	0	0
P2RY10	27334	broad.mit.edu	37	X	78216281	78216281	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chrX:78216281C>T	ENST00000171757.2	+	4	544	c.264C>T	c.(262-264)ccC>ccT	p.P88P	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.P88P	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	88						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TATCTTTACCCCTCCGGATTT	0.458000													22	43					0	0	0.000295444	0	0
CD101	9398	broad.mit.edu	37	1	117561029	117561029	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:117561029C>T	ENST00000256652.4	+	6	1922	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	CD101_ENST00000369470.1_Missense_Mutation_p.R622C	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	622	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTCTTTATTTCGTTCACAACT	0.448000													12	46					0	0	0.00185496	0	0
NRP2	8828	broad.mit.edu	37	2	206630209	206630209	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:206630209G>A	ENST00000360409.3	+	14	3110	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	NRP2_ENST00000357118.4_Silent_p.E773E|NRP2_ENST00000540841.1_Silent_p.E773E|NRP2_ENST00000272849.3_Silent_p.E773E|NRP2_ENST00000412873.2_Silent_p.E773E|NRP2_ENST00000357785.5_Silent_p.E773E|NRP2_ENST00000540178.1_Silent_p.E773E|NRP2_ENST00000485684.1_3'UTR	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	773	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTGTTCGAGGGAGTGATAG	0.468000													14	150					0	0	0.000308642	0	0
TIMM50	92609	broad.mit.edu	37	19	39976891	39976891	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:39976891C>T	ENST00000314349.4	+	7	999	c.866C>T	c.(865-867)cCt>cTt	p.P289L	TIMM50_ENST00000544017.1_Missense_Mutation_p.P73L|TIMM50_ENST00000607714.1_Missense_Mutation_p.P186L|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	186					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTTGCCCCTTTATATGAA	0.547000													27	232					0	0	0.00127121	0	0
XDH	7498	broad.mit.edu	37	2	31565072	31565072	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:31565072C>T	ENST00000379416.3	-	32	3544	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1166					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTTAGGCAGTCGATTTCTACT	0.443000													12	63					0	0	0.00136819	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331977	17331977	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:17331977G>A	ENST00000452699.1	-	3	369	c.180C>T	c.(178-180)atC>atT	p.I60I	ATP13A2_ENST00000341676.5_Silent_p.I60I|ATP13A2_ENST00000326735.8_Silent_p.I60I	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	60					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCAGCAAAGGGATCCCAGCCA	0.627000													12	12					0	0	0.00185496	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475680	42475680	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:42475680G>A	ENST00000434000.1	-	9	3813	c.3531C>T	c.(3529-3531)tcC>tcT	p.S1177S	GPATCH8_ENST00000591680.1_Silent_p.S1255S			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1255						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCTATCCAGGGACTCCAGGG	0.597000													16	115					0	0	0.000566183	0	0
FAM21C	253725	broad.mit.edu	37	10	46261178	46261178	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:46261178G>A	ENST00000336378.4	+	19	1907	c.1789G>A	c.(1789-1791)Gct>Act	p.A597T	FAM21C_ENST00000359860.4_Missense_Mutation_p.A541T|FAM21C_ENST00000540872.1_Missense_Mutation_p.A597T|FAM21C_ENST00000537517.1_Missense_Mutation_p.A573T|FAM21C_ENST00000374362.2_Missense_Mutation_p.A597T	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	597										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GTCTCTACAAGCTCAGAGAGA	0.433000													20	187					0	0	0.000375601	0	0
DLG2	1740	broad.mit.edu	37	11	83691581	83691581	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:83691581C>T	ENST00000398309.2	-	7	1179	c.709G>A	c.(709-711)Gga>Aga	p.G237R	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.G237R|DLG2_ENST00000524982.1_Missense_Mutation_p.G237R|DLG2_ENST00000280241.8_Missense_Mutation_p.G276R|DLG2_ENST00000531015.1_Missense_Mutation_p.G204R|DLG2_ENST00000418306.2_Missense_Mutation_p.G186R|DLG2_ENST00000376104.2_Missense_Mutation_p.G342R|DLG2_ENST00000398301.2_Missense_Mutation_p.G276R|DLG2_ENST00000543673.1_Missense_Mutation_p.G342R|DLG2_ENST00000330014.6_Missense_Mutation_p.G176R	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	237	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGCAACCTTCCATCTTTTTGT	0.408000													6	57					0	0	0.00116845	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161585	40161585	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr22:40161585G>A	ENST00000325157.6	-	6	1112	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	288										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGCCCAGAAGGACTATTTTCT	0.333000													7	96					0	0	8.12818e-05	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573298	140573298	+	Silent	SNP	C	C	T	rs139481353		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr5:140573298C>T	ENST00000239446.4	+	1	1357	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		391	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGCCATTCCTACTAAAAC	0.433000													5	31					0	0	0.000602214	0	0
MAT1A	4143	broad.mit.edu	37	10	82045326	82045326	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:82045326G>A	ENST00000372213.3	-	2	371	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	37					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGCATCACTGATCTGGTCAC	0.448000													6	37					0	0	8.12818e-05	0	0
C19orf12	83636	broad.mit.edu	37	19	30193665	30193665	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:30193665T>C	ENST00000323670.9	-	3	519	c.380A>G	c.(379-381)aAc>aGc	p.N127S	C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Missense_Mutation_p.N138S|C19orf12_ENST00000592153.1_3'UTR|C19orf12_ENST00000392276.1_Missense_Mutation_p.N63S	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	127						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GGTGACGTAGTTCACCAGCAT	0.632000													6	24					0	0	8.12818e-05	0	0
LCT	3938	broad.mit.edu	37	2	136570134	136570134	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:136570134G>A	ENST00000264162.2	-	7	2110	c.2100C>T	c.(2098-2100)atC>atT	p.I700I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	700	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATAGCTAGGGATGCAGGTGT	0.552000													8	38					0	0	0.00136819	0	0
SLIT1	6585	broad.mit.edu	37	10	98763970	98763970	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr10:98763970C>T	ENST00000266058.4	-	34	3965	c.3720G>A	c.(3718-3720)acG>acA	p.T1240T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.T1240T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1240	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CATCGTTGATCGTCTCAGCAC	0.572000													8	96					0	0	0.000673444	0	0
BRINP1	1620	broad.mit.edu	37	9	121929768	121929768	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:121929768G>A	ENST00000265922.3	-	8	2341	c.1880C>T	c.(1879-1881)aCc>aTc	p.T627I	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		627					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TCGCAGTAGGGTAGGTAGCCG	0.532000													18	100					0	0	0.00074312	0	0
PDGFRA	5156	broad.mit.edu	37	4	55152108	55152108	+	Missense_Mutation	SNP	C	C	T	rs121913263		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:55152108C>T	ENST00000257290.5	+	18	2871	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S607L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	847	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.M844_S847del(2)|p.H845_N848>P(1)|p.S847fs*1(1)|p.D842_S847>EA(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGCATGATTCGAACTATGTG	0.493000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			10	93					0	0	0.000673444	0	0
KIF1A	547	broad.mit.edu	37	2	241727552	241727552	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:241727552G>A	ENST00000498729.2	-	4	525	c.279C>T	c.(277-279)atC>atT	p.I93I	KIF1A_ENST00000320389.7_Silent_p.I93I	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	93	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CATAGGCGAAGATGCACACGT	0.607000													5	6					0	0	0.000602214	0	0
CD36	948	broad.mit.edu	37	7	80302686	80302686	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:80302686G>A	ENST00000435819.1	+	16	1899	c.1215G>A	c.(1213-1215)ctG>ctA	p.L405L	CD36_ENST00000534394.1_Silent_p.L329L|CD36_ENST00000433696.2_Silent_p.L366L|CD36_ENST00000538969.1_Silent_p.L345L|CD36_ENST00000309881.7_Silent_p.L405L|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000447544.2_Silent_p.L405L|CD36_ENST00000394788.3_Silent_p.L405L|CD36_ENST00000432207.1_Silent_p.L405L			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	405					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAAGAATCTGAAGAGGAACT	0.249000													8	92					0	0	0.000274275	0	0
PTCRA	171558	broad.mit.edu	37	6	42891008	42891008	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:42891008C>T	ENST00000304672.1	+	2	383	c.302C>T	c.(301-303)tCc>tTc	p.S101F	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.S76F	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	101						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GAGCTGGCATCCTGGGAGCCT	0.627000													11	54					0	0	0.000978159	0	0
FCGBP	8857	broad.mit.edu	37	19	40405988	40405988	+	Nonsense_Mutation	SNP	G	G	A	rs144236712		TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:40405988G>A	ENST00000221347.6	-	10	4865	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1620	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGTGTTCCTGGCACACCATG	0.637000													6	23					0	0	0.00116845	0	0
THSD7B	80731	broad.mit.edu	37	2	137990496	137990496	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr2:137990496C>T	ENST00000409968.1	+	9	2121	c.1943C>T	c.(1942-1944)gCt>gTt	p.A648V	THSD7B_ENST00000413152.2_Missense_Mutation_p.A617V|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.A648V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTAGTCAGGCTCTCCAAGAG	0.458000													9	29					0	0	0.000442599	0	0
SMARCA5	8467	broad.mit.edu	37	4	144468576	144468576	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr4:144468576G>A	ENST00000283131.3	+	21	3154	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	898					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCAGGACATAGAGAAGATTAT	0.338000													10	48					0	0	0.000978159	0	0
ZNF136	7695	broad.mit.edu	37	19	12297721	12297721	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:12297721C>T	ENST00000343979.4	+	4	668	c.528C>T	c.(526-528)acC>acT	p.T176T	ZNF136_ENST00000398616.2_Silent_p.T110T	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	176					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GTGGAAAAACCTTCTTTTCTC	0.383000													4	26					0	0	0.00024832	0	0
FAM131B	9715	broad.mit.edu	37	7	143053789	143053789	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:143053789C>T	ENST00000409408.1	-	6	2561	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	FAM131B_ENST00000409578.1_Missense_Mutation_p.E301K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E285K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E313K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E285K			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	285	Poly-Glu.			E -> G (in Ref. 6; AAH45611).						breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCATCCTCTTCCTCCTCAGGT	0.627000													8	157					0	0	0.000442599	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798797	55798797	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr11:55798797C>T	ENST00000313555.1	+	1	903	c.903C>T	c.(901-903)ctC>ctT	p.L301L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAAATGCTCTCAAAAAGCTAT	0.303000													8	54					0	0	0.000157383	0	0
KCNE2	9992	broad.mit.edu	37	21	35743057	35743057	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr21:35743057G>A	ENST00000290310.2	+	2	420	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	94					blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						GGACTGGCAGGAAAAGTACAA	0.493000													74	247					0	0	0.000781405	0	0
ACACB	32	broad.mit.edu	37	12	109660343	109660343	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:109660343C>T	ENST00000338432.7	+	25	3715	c.3596C>T	c.(3595-3597)tCg>tTg	p.S1199L	ACACB_ENST00000377854.5_Missense_Mutation_p.S1129L|ACACB_ENST00000377848.3_Missense_Mutation_p.S1199L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1199					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTTCCCTGTCGGACGAGCTG	0.572000													5	57					0	0	8.12818e-05	0	0
IGHV1-58	28464	broad.mit.edu	37	14	107078450	107078450	+	RNA	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr14:107078450C>T	ENST00000390628.2	-	0	334																											GTGGACATGTCCCTGGTAATG	0.537000													16	140					0	0	0.000308642	0	0
COL1A1	1277	broad.mit.edu	37	17	48263699	48263699	+	Silent	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:48263699C>T	ENST00000225964.5	-	49	4102	c.3984G>A	c.(3982-3984)gaG>gaA	p.E1328E		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1328	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGGTCATGCTCTCGCCGAACC	0.572000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						6	80					0	0	8.12818e-05	0	0
ABCC12	94160	broad.mit.edu	37	16	48138108	48138108	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:48138108G>A	ENST00000311303.3	-	20	3190	c.2845C>T	c.(2845-2847)Cct>Tct	p.P949S	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	949	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGACAGCAGGAAACACAGCA	0.478000													10	68					0	0	0.000442599	0	0
SPIRE2	84501	broad.mit.edu	37	16	89920709	89920709	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr16:89920709C>T	ENST00000378247.3	+	4	704	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R221W	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	221					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCAGAAGCTTCGGGAGGACGA	0.642000													4	9					0	0	0.00116845	0	0
PLIN4	729359	broad.mit.edu	37	19	4512463	4512463	+	Silent	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:4512463G>A	ENST00000301286.3	-	3	1466	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	489	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.S417S(1)|p.S489S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGCCCAGTGGACACAGCAT	0.617000													6	82					0	0	0.000157383	0	0
KRT40	125115	broad.mit.edu	37	17	39139319	39139319	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr17:39139319G>T	ENST00000377755.4	-	2	543	c.509C>A	c.(508-510)gCc>gAc	p.A170D	KRT40_ENST00000398486.2_Missense_Mutation_p.A170D			Q6A162	K1C40_HUMAN	keratin 40	170	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTCATCAGTGGCCAGTTTGCA	0.353000													11	167					0.00010058	0.000642309	0.00136819	1	0
EPHA6	285220	broad.mit.edu	37	3	97439220	97439220	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr3:97439220G>A	ENST00000389672.5	+	15	2938	c.2900G>A	c.(2899-2901)gGa>gAa	p.G967E		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	872	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGTCCTATGGAGAGAGACCT	0.448000													19	52					0	0	0.00121646	0	0
DHX9	1660	broad.mit.edu	37	1	182844081	182844083	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr1:182844081_182844083delGAT	ENST00000367549.3	+	16	1917_1919	c.1807_1809delGAT	c.(1807-1809)del	p.D605del		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	605					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						tggtggtgaggatgatgatgTAA	0.365													10	61	---	---	---	---					
RNF146	81847	broad.mit.edu	37	6	127608556	127608558	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr6:127608556_127608558delAGA	ENST00000368314.1	+	3	1222_1224	c.798_800delAGA	c.(796-801)gga>gg	p.GE266del	RNF146_ENST00000356799.2_In_Frame_Del_p.GE265del|RNF146_ENST00000309649.3_In_Frame_Del_p.GE265del	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	266					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGGGAGAAGGAGAAGAAGATCAT	0.463													8	44	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)ttfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													7	207	---	---	---	---					
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)atfs	p.N973fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport	cytoplasm|nucleus	binding	p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358													7	83	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	RNA	INS	-	-	G	rs141646579	by1000genomes	TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr12:7080210_7080211insG	ENST00000546220.1	+	0	155_156				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													4	9	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaa	0.413													2	4	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	RNA	DEL	TG	TG	-			TCGA-D3-A3CB-06A-11D-A196-08	TCGA-D3-A3CB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22328cd1-91d2-422e-8fd8-e23f2d6534d1	468ac982-9b6d-43d1-8af4-df6961fd9ca7	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401													7	17	---	---	---	---					
