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
TACR1	6869	broad.mit.edu	37	2	75347894	75347894	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:75347894C>G	ENST00000305249.4	-	2	1155	c.389_splice	c.e2-1	p.R130_splice	TACR1_ENST00000409848.3_Splice_Site_p.R130_splice	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	130					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGGCCATGTACCTGGAACAGA	0.483000													22	38					0	0	0.608945	0	0
ZNF576	79177	broad.mit.edu	37	19	44103389	44103389	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44103389G>A	ENST00000336564.4	+	3	646	c.492G>A	c.(490-492)cgG>cgA	p.R164R	ZNF576_ENST00000391965.2_Silent_p.R164R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Silent_p.R164R|ZNF576_ENST00000525771.1_Silent_p.R164R|ZNF576_ENST00000529930.1_Silent_p.R164R|ZNF576_ENST00000528387.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				ACTACATTCGGCATGCCCGGG	0.612000													3	37					0	0	0.115264	0	0
LRGUK	136332	broad.mit.edu	37	7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:133827909C>A	ENST00000285928.2	+	4	651	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	194							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCCAAAAACCTCAAGGTAG	0.338000													5	103					0.000602214	0.000663309	0.184627	1	0
CHERP	10523	broad.mit.edu	37	19	16643484	16643484	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:16643484C>T	ENST00000546361.2	-	5	750	c.599G>A	c.(598-600)cGc>cAc	p.R200H	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R200H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	200	CID.				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						AGCCGTGATGCGGTTCCGGAG	0.632000													4	69					0	0	0.150653	0	0
ETV3	2117	broad.mit.edu	37	1	157105282	157105282	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:157105282T>A	ENST00000368192.4	-	3	329	c.265A>T	c.(265-267)Aag>Tag	p.K89*	ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	89							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CGGCTCAGCTTGTCATAATTC	0.498000													22	39					0	0	0.639603	0	0
ZNF230	7773	broad.mit.edu	37	19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44515531C>A	ENST00000429154.2	+	5	1568	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAACTCATCCAAATGT	0.388000													4	75					0.150653	0.161263	0.150653	1	0
SIPA1	6494	broad.mit.edu	37	11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:65410052G>A	ENST00000394224.3	+	4	1222	c.926G>A	c.(925-927)cGc>cAc	p.R309H	SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	309					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCTGCCTGCGCCTGGGCTCA	0.697000													4	17					0	0	0.150653	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039436	153039436	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chrX:153039436C>T	ENST00000538966.1	+	21	3742	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	PLXNB3_ENST00000538282.1_Silent_p.A744A|PLXNB3_ENST00000361971.5_Silent_p.A1134A|PLXNB3_ENST00000538776.1_Silent_p.A787A	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1134					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGACTTCGCCAGTGCCAGTG	0.692000													28	24					0	0	0.729181	0	0
COL7A1	1294	broad.mit.edu	37	3	48608571	48608571	+	Missense_Mutation	SNP	G	G	A	rs150193295		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:48608571G>A	ENST00000328333.8	-	93	7234	c.7127C>T	c.(7126-7128)cCg>cTg	p.P2376L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2376	Triple-helical region.				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)		AGGGGAGCCCGGGACCCCGAC	0.642000													4	95					0	0	0.150653	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	65					0	0	0.150653	0	0
LACC1	144811	broad.mit.edu	37	13	44464253	44464253	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:44464253T>C	ENST00000441843.1	+	6	1622	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	LACC1_ENST00000325686.6_Silent_p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	379																	TCCTAAGGATTCTTCTAGAAC	0.373000													6	65					0	0	0.248553	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:46105995A>T	ENST00000355105.3	-	8	1991	c.631T>A	c.(631-633)Tct>Act	p.S211T	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AATGCAGCAGAGAAGGCAGCA	0.473000													24	238					0	0	0.681144	0	0
SLC4A7	9497	broad.mit.edu	37	3	27459989	27459989	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:27459989A>C	ENST00000295736.5	-	11	1690	c.1620T>G	c.(1618-1620)agT>agG	p.S540R	SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	540						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GAGAAGGGACACTTTTTGGTG	0.353000													8	32					0	0	0.361761	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	13					0	0	0.150653	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	13					0.00024832	0.000277534	0.150653	1	0
CCDC108	255101	broad.mit.edu	37	2	219900337	219900337	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:219900337C>G	ENST00000341552.5	-	5	490	c.407G>C	c.(406-408)aGa>aCa	p.R136T	CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T|CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	136						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTCACTCTCTCCTGCTT	0.547000													42	106					0	0	0.834066	0	0
FRG1	2483	broad.mit.edu	37	4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:190862186A>T	ENST00000226798.4	+	1	244	c.22A>T	c.(22-24)Aag>Tag	p.K8*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	8	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTCCTACGTGAAGTCTACCAA	0.637000											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0	0	0.150653	0	0
MYH6	4624	broad.mit.edu	37	14	23866021	23866021	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr14:23866021C>T	ENST00000405093.3	-	19	2244	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	MYH6_ENST00000356287.3_Missense_Mutation_p.R725H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	725	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTTCAGGATGCGATACCTGAG	0.547000													5	70					0	0	0.184627	0	0
EZH1	2145	broad.mit.edu	37	17	40865284	40865284	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:40865284T>C	ENST00000428826.2	-	11	1268	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A|EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	383					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCTTCTTTAGTCTCAGCCACA	0.537000													40	68					0	0	0.812448	0	0
HFE2	148738	broad.mit.edu	37	1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	196					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGGATAATGACTTCCT	0.587000													45	125					0	0	0.853193	0	0
HSF1	3297	broad.mit.edu	37	8	145535738	145535738	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:145535738G>A	ENST00000528838.1	+	9	1110	c.950G>A	c.(949-951)cGc>cAc	p.R317H	HSF1_ENST00000400780.4_Missense_Mutation_p.R252H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	317						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)			AGTCCCGGGCGCCCATCTTCC	0.697000													14	35					0	0	0.457914	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	63					0	0	0.150653	0	0
SCUBE2	57758	broad.mit.edu	37	11	9069059	9069059	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:9069059T>C	ENST00000457346.2	-	16	1920	c.1846A>G	c.(1846-1848)Aaa>Gaa	p.K616E	SCUBE2_ENST00000309263.3_Missense_Mutation_p.K587E|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	587						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CGGATGGCTTTACGGAGCCGC	0.567000													15	62					0	0	0.457914	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	80					0	0	0.184627	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	65					0	0	0.150653	0	0
KANSL1L	151050	broad.mit.edu	37	2	210993896	210993896	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:210993896A>G	ENST00000281772.9	-	3	1352	c.1088_splice	c.e3-1	p.V363_splice	KANSL1L_ENST00000418791.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000452086.1_Splice_Site_p.V363_splice|KANSL1L_ENST00000457374.1_Splice_Site_p.V363_splice	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	363																	TACTACAGTTACTGTGAACAA	0.403000													30	85					0	0	0.750413	0	0
LECT1	11061	broad.mit.edu	37	13	53286893	53286893	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:53286893C>G	ENST00000448904.2	-	5	690	c.580G>C	c.(580-582)Ggt>Cgt	p.G194R	LECT1_ENST00000377962.3_Missense_Mutation_p.G194R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	194	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAAGGTCACCGCAGAGTTCT	0.398000													32	66					0	0	0.750413	0	0
PTPRO	5800	broad.mit.edu	37	12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	867						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGCATCCTTAGAGAGGGATGG	0.398000													21	49					4.96729e-08	5.80791e-08	0.575678	1	0
PMM1	5372	broad.mit.edu	37	22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:41980560A>C	ENST00000216259.7	-	3	337	c.253T>G	c.(253-255)Tat>Gat	p.Y85D	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	85					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCGTGCTTATACTGCACCGTC	0.542000													4	91					0	0	0.150653	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747557	148747557	+	Splice_Site	SNP	G	G	A	rs34811631		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:148747557G>A	ENST00000514349.1	+	5	1134	c.553_splice	c.e5-1	p.E185_splice	PCYOX1L_ENST00000274569.4_Splice_Site_p.E275_splice			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	275					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCCAGAGGGGAAAGCCC	0.532000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	101					0	0	0.760397	0	0
LPHN3	23284	broad.mit.edu	37	4	62599226	62599226	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:62599226C>T	ENST00000512091.1	+	7	1896	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000514591.1_Silent_p.H383H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	383	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACTATCACGTCGTGAAAT	0.388000													10	32					0	0	0.361761	0	0
PCDH18	54510	broad.mit.edu	37	4	138451634	138451634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:138451634C>A	ENST00000344876.4	-	1	1995	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	537	Cadherin 5.				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)					TGACTCACTTCTTCATGATCA	0.418000													48	132					1.22102e-19	1.47297e-19	0.870114	1	0
DGKZ	8525	broad.mit.edu	37	11	46396525	46396525	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:46396525A>G	ENST00000454345.1	+	20	2329	c.2204A>G	c.(2203-2205)cAc>cGc	p.H735R	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R|DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	735					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGGGGAGCACCACGACTTT	0.637000													9	31					0	0	0.335167	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	108					0	0	0.150653	0	0
PADI3	51702	broad.mit.edu	37	1	17594365	17594365	+	Missense_Mutation	SNP	C	C	T	rs146396025		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:17594365C>T	ENST00000375460.3	+	6	600	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCTGCGGACGCAGGGCCCT	0.577000													34	81					0	0	0.750413	0	0
KLHL2	11275	broad.mit.edu	37	4	166234520	166234520	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTGGAGCAGGTACATGTGAAC	0.383000													16	50					0	0	0.557998	0	0
FILIP1	27145	broad.mit.edu	37	6	76022647	76022647	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:76022647A>C	ENST00000393004.2	-	5	3122	c.2901T>G	c.(2899-2901)agT>agG	p.S967R	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S967R|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	967										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGTATCTCCACTTTTTTGTT	0.413000													40	94					0	0	0.812448	0	0
GNAL	2774	broad.mit.edu	37	18	11881048	11881048	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:11881048G>A	ENST00000334049.6	+	12	1899	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	GNAL_ENST00000602628.1_Missense_Mutation_p.V147M|GNAL_ENST00000423027.3_Missense_Mutation_p.V354M|GNAL_ENST00000269162.5_Missense_Mutation_p.V354M|GNAL_ENST00000535121.1_Missense_Mutation_p.V354M|GNAL_ENST00000535980.1_3'UTR	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	354					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CACCTGCGCCGTGGACACAGA	0.607000													16	23					0	0	0.500413	0	0
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458000										Prostate(2;0.17)			51	126					0	0	0.870114	0	0
ASCC3	10973	broad.mit.edu	37	6	101098516	101098516	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:101098516T>C	ENST00000369162.2	-	20	3494	c.3150A>G	c.(3148-3150)gtA>gtG	p.V1050V		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1050	SEC63 1.		V -> I (in dbSNP:rs9497983).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACTATTCTCTACACCTCCAG	0.363000													28	40					0	0	0.693898	0	0
CYTIP	9595	broad.mit.edu	37	2	158272362	158272362	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:158272362G>A	ENST00000264192.3	-	8	1028	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	CYTIP_ENST00000540637.1_Missense_Mutation_p.R197W	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	303	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGATGCTCCGGTTCCTCCTT	0.547000													28	67					0	0	0.717897	0	0
SPAG1	6674	broad.mit.edu	37	8	101206436	101206436	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:101206436A>T	ENST00000388798.2	+	10	1227	c.1036A>T	c.(1036-1038)Aac>Tac	p.N346Y	SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	346					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAATAGAAAACTCCGAAGA	0.373000													9	20					0	0	0.335167	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097209	110097209	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000504098.1_Silent_p.D182D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGTTCTGACGTTATACTTT	0.428000													17	340					0	0	0.575678	0	0
TCERG1	10915	broad.mit.edu	37	5	145838656	145838656	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:145838656G>A	ENST00000296702.5	+	4	686	c.648G>A	c.(646-648)caG>caA	p.Q216Q	TCERG1_ENST00000394421.2_Silent_p.Q216Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	216	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaggcccaggccc	0.731000													3	28					0	0	0.150653	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306855	28306855	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr21:28306855G>A	ENST00000284987.5	-	4	1740	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	540	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCCACAAGGCGTCCCTTCCAC	0.522000													14	74					0	0	0.500413	0	0
NPHS1	4868	broad.mit.edu	37	19	36334480	36334480	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:36334480C>T	ENST00000378910.5	-	17	2227	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	743	Ig-like C2-type 7.		R -> C (in NPHS1; does not affect protein expression on the cell surface).		cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R743L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGAGGGCACGGATGGTGGG	0.612000													5	117					0	0	0.184627	0	0
C1orf146	388649	broad.mit.edu	37	1	92709886	92709886	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:92709886G>A	ENST00000370373.2	+	5	560	c.96G>A	c.(94-96)ttG>ttA	p.L32L	C1orf146_ENST00000370375.3_Silent_p.L91L			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	91										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTTTGGTTTTGTCTGCTGCCC	0.328000													10	25					0	0	0.411799	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137784	64137784	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:64137784C>T	ENST00000528057.1	+	15	1952	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R629C	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	629	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGCAAAATCCGCGAGGGGCG	0.657000													15	118					0	0	0.479597	0	0
TCF4	6925	broad.mit.edu	37	18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:52901781C>T	ENST00000354452.3	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	495					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAACCTACCTCTGTAAGGGTC	0.557000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	77					0	0	0.654019	0	0
ADORA1	134	broad.mit.edu	37	1	203134969	203134969	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:203134969C>T	ENST00000367236.4	+	3	1843	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C|ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	308					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGACCATTTCCGCTGCCAGCC	0.582000													13	77					0	0	0.479597	0	0
PRDM16	63976	broad.mit.edu	37	1	3328642	3328642	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:3328642C>T	ENST00000378398.3	+	10	1966	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	PRDM16_ENST00000442529.2_Silent_p.S627S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000270722.5_Silent_p.S627S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000511072.1_Silent_p.S628S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	627					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGGACAGCGACGTGGACA	0.687000			T	EVI1	"""MDS, AML"""								36	113					0	0	0.812448	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:19077545G>C	ENST00000329773.2	-	2	492	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	135					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCGATACCAGATGGGCCACA	0.617000													7	108					0	0	0.278610	0	0
FRY	10129	broad.mit.edu	37	13	32761791	32761791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:32761791C>T	ENST00000380250.3	+	28	4085	c.3589C>T	c.(3589-3591)Cga>Tga	p.R1197*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAAGATTTACGAGTAAGTAT	0.413000													20	27					0	0	0.575678	0	0
ALX4	60529	broad.mit.edu	37	11	44289106	44289106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:44289106G>A	ENST00000329255.3	-	3	947	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	282					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTGGGTTCGAACCTGCTGC	0.602000													33	87					0	0	0.760397	0	0
PRMT6	55170	broad.mit.edu	37	1	107600027	107600027	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:107600027C>T	ENST00000361318.5	+	1	761	c.513C>T	c.(511-513)ctC>ctT	p.L171L	PRMT6_ENST00000370078.1_Silent_p.L230L	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	230					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CGCGCTGTCTCATGGGCCACT	0.657000													35	77					0	0	0.796494	0	0
ZNF576	79177	broad.mit.edu	37	19	44103389	44103389	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr19:44103389G>A	ENST00000336564.4	+	3	646	c.492G>A	c.(490-492)cgG>cgA	p.R164R	ZNF576_ENST00000529930.1_Silent_p.R164R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Silent_p.R164R|ZNF576_ENST00000533118.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Silent_p.R164R|ZNF576_ENST00000525771.1_Silent_p.R164R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				ACTACATTCGGCATGCCCGGG	0.612000													3	37					0	0	0.115264	0	0
LRGUK	136332	broad.mit.edu	37	7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr7:133827909C>A	ENST00000285928.2	+	4	651	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	194							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCCAAAAACCTCAAGGTAG	0.338000													5	103					0.000602214	0.0007262	0.184627	1	0
ZNF230	7773	broad.mit.edu	37	19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr19:44515531C>A	ENST00000429154.2	+	5	1568	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAACTCATCCAAATGT	0.388000													4	75					0.150653	0.171578	0.150653	1	0
KLHL2	11275	broad.mit.edu	37	4	166234520	166234520	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTGGAGCAGGTACATGTGAAC	0.383000													16	50					0	0	0.557998	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097209	110097209	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000447245.2_Silent_p.D247D|SLC25A46_ENST00000513706.1_3'UTR	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGTTCTGACGTTATACTTT	0.428000													17	340					0	0	0.575678	0	0
NPHS1	4868	broad.mit.edu	37	19	36334480	36334480	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr19:36334480C>T	ENST00000378910.5	-	17	2227	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	743	Ig-like C2-type 7.		R -> C (in NPHS1; does not affect protein expression on the cell surface).		cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R743L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGAGGGCACGGATGGTGGG	0.612000													5	117					0	0	0.184627	0	0
HCG17	0	broad.mit.edu	37	6	30227442	30227442	+	RNA	SNP	T	T	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr6:30227442T>G	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							CTGCTGCTCTTGGGGGCCCTG	0.706000													5	29					0	0	0.217242	0	0
LACC1	144811	broad.mit.edu	37	13	44464253	44464253	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr13:44464253T>C	ENST00000441843.1	+	6	1622	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	LACC1_ENST00000325686.6_Silent_p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	379																	TCCTAAGGATTCTTCTAGAAC	0.373000													6	65					0	0	0.248553	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr1:46105995A>T	ENST00000355105.3	-	8	1991	c.631T>A	c.(631-633)Tct>Act	p.S211T	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AATGCAGCAGAGAAGGCAGCA	0.473000													24	238					0	0	0.681144	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137784	64137784	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr11:64137784C>T	ENST00000528057.1	+	15	1952	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R629C	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	629	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGCAAAATCCGCGAGGGGCG	0.657000													15	118					0	0	0.479597	0	0
ADORA1	134	broad.mit.edu	37	1	203134969	203134969	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr1:203134969C>T	ENST00000367236.4	+	3	1843	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	308					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGACCATTTCCGCTGCCAGCC	0.582000													13	77					0	0	0.479597	0	0
FRG1	2483	broad.mit.edu	37	4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr4:190862186A>T	ENST00000226798.4	+	1	244	c.22A>T	c.(22-24)Aag>Tag	p.K8*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	8	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTCCTACGTGAAGTCTACCAA	0.637000											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0	0	0.150653	0	0
HFE2	148738	broad.mit.edu	37	1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	196					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGGATAATGACTTCCT	0.587000													45	125					0	0	0.853193	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	13					0	0	0.150653	0	0
PTPRO	5800	broad.mit.edu	37	12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	867						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGCATCCTTAGAGAGGGATGG	0.398000													21	49					4.96729e-08	6.56964e-08	0.575678	1	0
PMM1	5372	broad.mit.edu	37	22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr22:41980560A>C	ENST00000216259.7	-	3	337	c.253T>G	c.(253-255)Tat>Gat	p.Y85D	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	85					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCGTGCTTATACTGCACCGTC	0.542000													4	91					0	0	0.150653	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	108					0	0	0.150653	0	0
SIPA1	6494	broad.mit.edu	37	11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr11:65410052G>A	ENST00000394224.3	+	4	1222	c.926G>A	c.(925-927)cGc>cAc	p.R309H	SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	309					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCTGCCTGCGCCTGGGCTCA	0.697000													4	17					0	0	0.150653	0	0
MYH6	4624	broad.mit.edu	37	14	23866021	23866021	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr14:23866021C>T	ENST00000405093.3	-	19	2244	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	MYH6_ENST00000356287.3_Missense_Mutation_p.R725H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	725	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTTCAGGATGCGATACCTGAG	0.547000													5	70					0	0	0.184627	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	13					0.00024832	0.000308519	0.150653	1	0
COL7A1	1294	broad.mit.edu	37	3	48608571	48608571	+	Missense_Mutation	SNP	G	G	A	rs150193295		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr3:48608571G>A	ENST00000328333.8	-	93	7234	c.7127C>T	c.(7126-7128)cCg>cTg	p.P2376L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2376	Triple-helical region.				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)		AGGGGAGCCCGGGACCCCGAC	0.642000													4	95					0	0	0.150653	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28306855	28306855	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr21:28306855G>A	ENST00000284987.5	-	4	1740	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	540	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCCACAAGGCGTCCCTTCCAC	0.522000													14	74					0	0	0.500413	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr11:19077545G>C	ENST00000329773.2	-	2	492	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	135					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCGATACCAGATGGGCCACA	0.617000													7	108					0	0	0.278610	0	0
TCF4	6925	broad.mit.edu	37	18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr18:52901781C>T	ENST00000354452.3	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	495					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAACCTACCTCTGTAAGGGTC	0.557000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	77					0	0	0.654019	0	0
CHERP	10523	broad.mit.edu	37	19	16643484	16643484	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr19:16643484C>T	ENST00000546361.2	-	5	750	c.599G>A	c.(598-600)cGc>cAc	p.R200H	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R200H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	200	CID.				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						AGCCGTGATGCGGTTCCGGAG	0.632000													4	69					0	0	0.150653	0	0
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	TT			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:143210193_143210194insTT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	86	---	---	---	---					
GGCX	2677	broad.mit.edu	37	2	85777103	85777106	+	Frame_Shift_Del	DEL	GAAT	GAAT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:85777103_85777106delGAAT	ENST00000233838.3	-	15	2308_2311	c.2228_2231delATTC	c.(2227-2232)ctfs	p.HS743fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	743					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	AGGAGGATTAGAATGTGAAGAATC	0.515													25	61	---	---	---	---					
MAP3K7	6885	broad.mit.edu	37	6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:91226267_91226269delGTT	ENST00000369329.3	-	17	1933_1935	c.1772_1774delAAC	c.(1771-1776)cta>c	p.QL591del	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_In_Frame_Del_p.QL245del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.QL564del|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369325.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	591					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGACCTCTAGTTGTTTTTTGCA	0.374													18	107	---	---	---	---					
SNX13	23161	broad.mit.edu	37	7	17915291	17915291	+	Splice_Site	DEL	C	C	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:17915291delC	ENST00000409389.1	-	6	735		c.e6+1		SNX13_ENST00000428135.3_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAAGATATTACCTTTCACTTG	0.313													5	9	---	---	---	---					
BLK	640	broad.mit.edu	37	8	11421593	11421607	+	In_Frame_Del	DEL	GCGGCAGTACGAGCT	GCGGCAGTACGAGCT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:11421593_11421607delGCGGCAGTACGAGCT	ENST00000259089.4	+	13	2086_2100	c.1494_1508delGCGGCAGTACGAGCT	c.(1492-1509)gag>ga	p.ERQYEL498del	BLK_ENST00000529894.1_In_Frame_Del_p.ERQYEL427del	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	498					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGGCCACCGAGCGGCAGTACGAGCTGCAGCCCTAG	0.735													4	9	---	---	---	---					
LMAN1L	79748	broad.mit.edu	37	15	75105252	75105253	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr15:75105252_75105253delCC	ENST00000309664.5	+	1	196_197	c.57_58delCC	c.(55-60)gaccfs	p.DP19fs	LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.DP19fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	19						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTCCTGGACCCCCACAGCCC	0.609													34	133	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3778439	3778451	+	Frame_Shift_Del	DEL	TTGCTGCTGCTGC	TTGCTGCTGCTGC	-	rs62636220	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr16:3778439_3778451delTTGCTGCTGCTGC	ENST00000262367.5	-	31	7406_7418	c.6597_6609delGCAGCAGCAGCAA	c.(6595-6609)cafs	p.QQQQQ2209fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.QQQQQ2171fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2209	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gctgctgctgttgctgctgctgctgcagcagct	0.606			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						17	36	---	---	---	---					
MAP3K7	6885	broad.mit.edu	37	6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr6:91226267_91226269delGTT	ENST00000369329.3	-	17	1933_1935	c.1772_1774delAAC	c.(1771-1776)cta>c	p.QL591del	MAP3K7_ENST00000369320.1_In_Frame_Del_p.QL245del|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.QL564del|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000479630.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	591					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGACCTCTAGTTGTTTTTTGCA	0.374													18	107	---	---	---	---					
SNX13	23161	broad.mit.edu	37	7	17915291	17915291	+	Splice_Site	DEL	C	C	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	7c8596cb-b3eb-4f56-81ce-6011b7f8bd65	g.chr7:17915291delC	ENST00000409389.1	-	6	735		c.e6+1		SNX13_ENST00000428135.3_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAAGATATTACCTTTCACTTG	0.313													5	9	---	---	---	---					
