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
PBX1	5087	broad.mit.edu	37	1	164789324	164789324	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:164789324T>G	ENST00000420696.2	+	7	1201	c.1013T>G	c.(1012-1014)tTt>tGt	p.F338C	PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000367897.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	338					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F338C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCCAGTTCTTTTAACATGTCA	0.473			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								20	131	---	---	---	---
FER1L5	90342	broad.mit.edu	37	2	97369281	97369281	+	RNA	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:97369281G>A	ENST00000457909.1	+	0	5216							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.E1941K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GATGAGCCTGGAGATTCTGTC	0.577													7	57	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167304172	167304172	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:167304172G>T	ENST00000409855.1	-	11	1463	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	446					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T446K(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATGTGTCTGTGGAAATTGG	0.378													45	149	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47036899	47036899	+	Silent	SNP	A	A	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:47036899A>G	ENST00000450053.3	+	13	1853	c.1674A>G	c.(1672-1674)gcA>gcG	p.A558A	NBEAL2_ENST00000292309.5_Silent_p.A558A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	558							binding	p.A119A(1)|p.A558A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGACACGCAGGTGCTGTCA	0.632													17	35	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51347719	51347719	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:51347719C>T	ENST00000266037.9	+	28	3002	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	993						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.F993F(2)|p.F982F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGTGTCTTCCCTCGGGACT	0.463													8	12	---	---	---	---
MME	4311	broad.mit.edu	37	3	154860109	154860109	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:154860109C>A	ENST00000460393.1	+	12	1298	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	393					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A393D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCCAGAAATGCTTTCCGCAAG	0.378													10	166	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31930258	31930258	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:31930258G>C	ENST00000375394.2	+	11	1220	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	369	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.K369N(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCAACCAGAAGTTCCGGGACT	0.587													48	93	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51524058	51524058	+	Silent	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:51524058G>A	ENST00000371117.3	-	61	11141	c.10866C>T	c.(10864-10866)tgC>tgT	p.C3622C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3622			C -> Y (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C3622C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACAGTAGGGCAATTGCGCT	0.458													62	151	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21469876	21469876	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:21469876C>G	ENST00000222584.3	+	3	1311	c.1093C>G	c.(1093-1095)Cct>Gct	p.P365A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	365					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.P365A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCAAACACCTGCTGCTAC	0.468													8	144	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42262830	42262830	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:42262830G>C	ENST00000395925.3	-	2	107	c.23C>G	c.(22-24)tCc>tGc	p.S8C	GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	8					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S8C(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTGGTCGTGGAGCTGTGGGA	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	161	---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70228041	70228041	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:70228041C>A	ENST00000342771.4	+	7	1249	c.928C>A	c.(928-930)Cag>Aag	p.Q310K	AUTS2_ENST00000406775.2_Missense_Mutation_p.Q310K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	310								p.Q310K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCCAGCCGCAGACGGAGCC	0.607													3	38	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)			7	291	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77448965	77448965	+	Silent	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:77448965T>C	ENST00000451710.3	-	6	855	c.618A>G	c.(616-618)ggA>ggG	p.G206G	TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000360774.1_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000483186.1_5'UTR			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	206					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G206G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGGAGGGATTCCAACTGTCC	0.418													60	122	---	---	---	---
SYK	6850	broad.mit.edu	37	9	93606305	93606305	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:93606305G>A	ENST00000375754.4	+	2	273	c.125G>A	c.(124-126)cGc>cAc	p.R42H	SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	42	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.R42H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TATTTGCTGCGCCAGAGCCGC	0.617			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								6	13	---	---	---	---
CARD9	64170	broad.mit.edu	37	9	139262118	139262118	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:139262118T>C	ENST00000371732.5	-	8	1405	c.1240A>G	c.(1240-1242)Agg>Ggg	p.R414G	CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	414					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	p.R414G(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGCTGCCGCCTGAGCCTGCCC	0.721													2	12	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55110960	55110960	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55110960G>T	ENST00000314721.2	+	1	334	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95F(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCAGCTTGCATGGGTCAG	0.453													10	551	---	---	---	---
ATM	472	broad.mit.edu	37	11	108235812	108235812	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:108235812C>T	ENST00000278616.4	+	62	9239	c.8854C>T	c.(8854-8856)Ctt>Ttt	p.L2952F	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952F|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2952	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTTAGGTCCTTCTATATGA	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	102	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45594565	45594565	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr13:45594565T>A	ENST00000361121.2	+	7	839		c.e7+2		GPALPP1_ENST00000379151.4_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Splice_Site					GPALPP motifs containing 1									p.?(1)									TCATACAATGTAAGTAAGAAA	0.418													5	91	---	---	---	---
KLC1	3831	broad.mit.edu	37	14	104124043	104124043	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:104124043T>C	ENST00000389744.4	+	3	691	c.422T>C	c.(421-423)cTg>cCg	p.L141P	KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000348520.6_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P			Q07866	KLC1_HUMAN	kinesin light chain 1	141					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.L141P(1)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GTGGCTCAACTGGAGGAGGAG	0.502													3	77	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30903561	30903561	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr18:30903561C>T	ENST00000383096.3	-	11	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K					coiled-coil domain containing 178									p.E306K(2)									AAAGCTTCTTCAAGTTCTTCA	0.308													9	47	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640708	57640708	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:57640708T>C	ENST00000254181.4	+	4	1119	c.665T>C	c.(664-666)tTg>tCg	p.L222S	USP29_ENST00000598197.1_Missense_Mutation_p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	222					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L222S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGAGATTTGAAACTCGGG	0.363													55	139	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26688423	26688423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:26688423C>A	ENST00000529632.2	+	2	342	c.146C>A	c.(145-147)tCa>tAa	p.S49*	SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	49						endoplasmic reticulum membrane|integral to membrane		p.S49*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCCCTCAGGAGCCCCG	0.582													31	66	---	---	---	---
DUSP18	150290	broad.mit.edu	37	22	31059967	31059967	+	Silent	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:31059967G>A	ENST00000403268.1	-	2	494	c.24C>T	c.(22-24)ttC>ttT	p.F8F	DUSP18_ENST00000404885.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Silent_p.F8F|DUSP18_ENST00000407308.1_Silent_p.F8F			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	8						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.F8F(2)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTGAACTGGGAAGGCACACG	0.562													16	36	---	---	---	---
GARS	2617	broad.mit.edu	37	7	30661990	30661992	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:30661990_30661992delAAG	ENST00000389266.3	+	12	1766_1768	c.1525_1527delAAG	c.(1525-1527)aagdel	p.K510del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	510					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAAGGCATATAAGAAGGATGCAA	0.404													8	322	---	---	---	---
MYEOV	26579	broad.mit.edu	37	11	69063421	69063425	+	Frame_Shift_Del	DEL	CTTTA	CTTTA	-			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:69063421_69063425delCTTTA	ENST00000535407.1	+	2	973_977	c.330_334delCTTTA	c.(328-336)gcctttagafs	p.FR111fs	MYEOV_ENST00000308946.3_Frame_Shift_Del_p.FR169fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	169										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGGGAGAAGCCTTTAGAGTGGGCGT	0.585													90	356	---	---	---	---
PPP5C	5536	broad.mit.edu	37	19	46850390	46850400	+	Frame_Shift_Del	DEL	GAGCCCCCCCG	GAGCCCCCCCG	-	rs150667064	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:46850390_46850400delGAGCCCCCCCG	ENST00000012443.4	+	1	140_150	c.37_47delGAGCCCCCCCG	c.(37-48)gagcccccccggfs	p.EPPR13fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	13					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R16fs*7(1)|p.P14H(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAGTGTGCTGAGCCCCCCCGGGACGAACCC	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9	---	---	---	---
