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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													9	14					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17418910	17418910	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:17418910G>A	ENST00000375486.4	-	6	711	c.648C>T	c.(646-648)taC>taT	p.Y216Y	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.Y216Y	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	216					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CACTCTCCACGTAGAACACGC	0.577000													28	41					0	0	1	0	0
MRPL17	63875	broad.mit.edu	37	11	6704527	6704527	+	Translation_Start_Site	SNP	T	T	C	rs140275479		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:6704527T>C	ENST00000288937.6	-	1	105	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	1					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACAGCCGCATGTTTCCAACT	0.622000											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	27					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													3	32					0.115264	0.116865	1	1	0
CNOT2	4848	broad.mit.edu	37	12	70726595	70726595	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:70726595C>G	ENST00000229195.3	+	7	1197	c.618C>G	c.(616-618)aaC>aaG	p.N206K	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.N206K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	206					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAATGAATAACTCCTTATCAA	0.318000													29	60					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130293979	130293979	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:130293979C>T	ENST00000373312.3	-	2	347	c.134G>A	c.(133-135)cGc>cAc	p.R45H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R32H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	45							protein binding	p.R45H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AATCTCATGGCGCATGCTGTT	0.577000													22	104					0	0	1	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98788017	98788017	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr8:98788017T>C	ENST00000445593.2	+	1	733	c.53T>C	c.(52-54)gTc>gCc	p.V18A	LAPTM4B_ENST00000521545.2_5'UTR	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	71					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			CCCCTCCCCGTCCCCGCCGCT	0.711000													5	3					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207144	58207144	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr13:58207144G>C	ENST00000377918.3	+	1	490	c.464G>C	c.(463-465)aGc>aCc	p.S155T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	155	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCCTCACCAGCGCACATGAC	0.642000													7	48					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719479	140719479	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:140719479T>A	ENST00000394576.2	+	1	941	c.941T>A	c.(940-942)tTc>tAc	p.F314Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTACATTCCATGAAATT	0.428000													17	269					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134147259	134147259	+	Silent	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:134147259C>T	ENST00000389887.5	+	2	2559	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GLB1L3_ENST00000431683.2_Silent_p.F21F			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	21					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCATCTTTTTCCTGCCATTTA	0.542000													5	45					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs114234640	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:32725567C>T	ENST00000435145.2	-	4	801	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000													5	28					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000230354.6_Silent_p.Q78Q|TBP_ENST00000540980.1_Silent_p.Q58Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000													4	50					0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51967796	51967796	+	Splice_Site	SNP	A	A	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:51967796A>C	ENST00000232888.6	-	14	1335	c.1262T>G	c.(1261-1263)gTg>gGg	p.V421G		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	421					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GATAAAACCCACCTGAGCAGA	0.572000													10	174					0	0	1	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527475	32527475	+	RNA	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr13:32527475G>A	ENST00000428783.1	+	0	1175																											GCAGAGTGTCGACATCGCAGC	0.498000													6	60					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56921899	56921899	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr16:56921899G>A	ENST00000438926.2	+	18	2270	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	SLC12A3_ENST00000262502.5_Silent_p.Q746Q|SLC12A3_ENST00000566786.1_Silent_p.Q746Q|SLC12A3_ENST00000563236.1_Silent_p.Q747Q	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	747					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGAACTGGCAGTCGGCTCACC	0.587000													11	100					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545175	82545175	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr7:82545175G>A	ENST00000333891.9	-	7	12464	c.12127C>T	c.(12127-12129)Cca>Tca	p.P4043S	PCLO_ENST00000423517.2_Missense_Mutation_p.P4043S|PCLO_ENST00000437081.1_Missense_Mutation_p.P763S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATTTCGTGGAGTATGGTGA	0.408000													6	58					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	125					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	11992227	11992227	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:11992227C>G	ENST00000396373.4	+	3	591	c.317C>G	c.(316-318)tCt>tGt	p.S106C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	106	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y104fs*14(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CGCTATCGATCTCCTCATTCA	0.463000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								5	78					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	416					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036690	62036690	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:62036690G>A	ENST00000578147.1	-	12	2030	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F	SCN4A_ENST00000435607.1_Missense_Mutation_p.L652F			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	652					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACCAGGCTGAGGGTGACGATG	0.562000													13	52					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830190	23830190	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:23830190C>T	ENST00000264867.2	-	5	709	c.590G>A	c.(589-591)tGt>tAt	p.C197Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	197					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTGTTGACAAATACTCTT	0.408000													40	94					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920805	155920805	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:155920805G>A	ENST00000462460.2	-	24	2907	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R840W|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R841W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R812W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R839W|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R812W|ARHGEF2_ENST00000477754.2_Intron			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACTCTCCCGGAGCCGGGCC	0.706000													17	15					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432495	220432495	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:220432495G>A	ENST00000404537.1	-	3	1535	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	OBSL1_ENST00000373873.4_Silent_p.G493G|OBSL1_ENST00000603926.1_Silent_p.G493G|OBSL1_ENST00000265318.4_Silent_p.G493G|OBSL1_ENST00000289656.3_Silent_p.G80G|OBSL1_ENST00000373876.1_Silent_p.G493G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	493					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTGACCTCGCCAGCATCCT	0.627000													4	88					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	12					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	407544	407544	+	Silent	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:407544C>T	ENST00000380956.4	+	9	1428	c.1302C>T	c.(1300-1302)atC>atT	p.I434I		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	434					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGAACACATCAGCAATCCAG	0.358000			T	IGH@	MM								17	54					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968090	102968090	+	Silent	SNP	C	C	T	rs112596146		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:102968090C>T	ENST00000233954.1	+	11	1651	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	460	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.Y460Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGTTTGCCTACGAGCAGGAGG	0.527000													32	57					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	67					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873279	173873279	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:173873279A>G	ENST00000506823.1	+	10	1898	c.1241A>G	c.(1240-1242)gAc>gGc	p.D414G	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D397G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	414						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCCACGGGGGACATCTCTGCC	0.567000													37	80					0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17330605	17330605	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:17330605A>G	ENST00000445667.2	+	8	823	c.763A>G	c.(763-765)Atg>Gtg	p.M255V	USE1_ENST00000596136.1_3'UTR|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000263897.5_Missense_Mutation_p.M255V			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	255					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CATTCGAATCATGCCTAAACT	0.522000													4	188					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355276	56355276	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:56355276G>A	ENST00000340482.3	-	6	1388	c.1212C>T	c.(1210-1212)aaC>aaT	p.N404N	MPO_ENST00000225275.3_Silent_p.N372N|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	372					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGGCCCGGCCGTTGTCTTGGA	0.652000													41	55					0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30503008	30503008	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:30503008G>A	ENST00000358365.3	+	5	477	c.250G>A	c.(250-252)Gtt>Att	p.V84I	RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000394692.2_Missense_Mutation_p.V84I|RHOT1_ENST00000333942.6_Missense_Mutation_p.V84I|RHOT1_ENST00000354266.3_Missense_Mutation_p.V63I|RHOT1_ENST00000545287.2_Missense_Mutation_p.V84I|RHOT1_ENST00000581094.1_Missense_Mutation_p.V84I	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	84	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGTGTATGCCGTTAACAACAA	0.308000													3	22					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:133353241T>C	ENST00000204726.3	-	21	4515	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTAGCCCTTCCAGTTCCT	0.587000													5	144					0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522000													4	209					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108718947	108718947	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:108718947C>A	ENST00000218006.2	-	2	510	c.219G>T	c.(217-219)gaG>gaT	p.E73D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	73					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCGCAGCAACCTCAGGCAGGG	0.517000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	197					2.31682e-05	2.38209e-05	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56020474	56020474	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:56020474G>A	ENST00000303059.3	+	1	799	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAGGCAAAAGGCCTTCTCTAC	0.423000													27	135					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240111713	240111713	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:240111713C>T	ENST00000345617.3	-	4	946	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HDAC4_ENST00000541256.1_Missense_Mutation_p.R21H	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	52					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTGGTCCAGGCGCAGGTCCAT	0.667000													7	59					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870086	151870086	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:151870086G>A	ENST00000329342.5	+	3	1001	c.776G>A	c.(775-777)cGg>cAg	p.R259Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE.						protein binding	p.R259Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTACCGGCAGGTCCCC	0.522000													7	315					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547956	35547956	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:35547956C>A	ENST00000536438.1	-	10	1198	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	FKBP5_ENST00000357266.4_Missense_Mutation_p.V295L|FKBP5_ENST00000540787.1_Missense_Mutation_p.V116L|FKBP5_ENST00000539068.1_Missense_Mutation_p.V295L	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	295					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AACCAGGACACTATCTTCCCA	0.433000													26	152					6.32553e-13	6.59662e-13	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139396809	139396809	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:139396809G>A	ENST00000277541.6	-	28	5374	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1767					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGAACCAGAGCTGGCCATGC	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	58					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652000			T	BCL6	NHL								6	121					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46887419	46887419	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:46887419G>A	ENST00000218343.4	+	6	899	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	PHF16_ENST00000397189.1_Missense_Mutation_p.V201M	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		201					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGATGAAGATGTGATCTGTGA	0.448000													27	61					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													5	228					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157389	14157389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:14157389G>A	ENST00000263379.2	+	8	1225	c.1100G>A	c.(1099-1101)tGg>tAg	p.W367*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	367	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAACTCAACTGGGTCCGGCTT	0.632000													60	119					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802589	137802589	+	Missense_Mutation	SNP	C	C	T	rs137878468		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:137802589C>T	ENST00000239938.4	+	2	723	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	151					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACCTTGTGGCCCGAGCCCCT	0.637000													5	248					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499413	52499413	+	Silent	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:52499413G>A	ENST00000371614.1	-	1	75	c.21C>T	c.(19-21)tgC>tgT	p.C7C	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	7							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ACGGCAGCCCGCAAAACACCA	0.672000													3	26					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													5	239					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508340	167508340	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:167508340A>G	ENST00000295777.5	+	3	862	c.431A>G	c.(430-432)aAt>aGt	p.N144S	SERPINI1_ENST00000446050.2_Missense_Mutation_p.N144S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	144					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCAGTCAAAATGTAGCCGTG	0.363000													12	55					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189831	197189831	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:197189831G>A	ENST00000260983.3	-	6	796	c.614C>T	c.(613-615)cCt>cTt	p.P205L	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATAAGGGTCAGGATTGAAGAA	0.493000													4	164					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129869084	129869084	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr10:129869084G>A	ENST00000254667.3	+	15	1585	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	PTPRE_ENST00000306042.5_Missense_Mutation_p.V378I|PTPRE_ENST00000419012.2_Missense_Mutation_p.V436I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	436	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACAAATGTCCGGATCAT	0.522000													10	35					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	37					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51712705	51712705	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:51712705G>A	ENST00000371117.3	-	50	8250	c.7975C>T	c.(7975-7977)Ccg>Tcg	p.P2659S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2659S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2659					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTAAGGCGGCAAATCTGTG	0.458000													4	171					0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34717551	34717551	+	Splice_Site	SNP	G	G	C			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr21:34717551G>C	ENST00000270139.3	+	6	825		c.e6-1		IFNAR1_ENST00000416947.2_Splice_Site|IFNAR1_ENST00000442357.2_Splice_Site	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1						JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTGGCTTCTAGTTGAAAATGA	0.328000													5	29					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109023364	109023364	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:109023364G>A	ENST00000478945.1	-	7	1058	c.812C>T	c.(811-813)cCa>cTa	p.P271L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	271						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTATGCCTGGGGATGGGAA	0.473000													41	45					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													5	4					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179531582	179531582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:179531582delA	ENST00000589042.1	-	163	36068	c.35844delT	c.(35842-35844)attfs	p.I11948fs	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10096	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTTAACAATAGGAGTTT	0.323													2	4	---	---	---	---					
RIOK2	55781	broad.mit.edu	37	5	96518818	96518819	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:96518818_96518819insG	ENST00000509481.1	+	4	680_681	c.139_140insG	c.(139-141)cggfs	p.R47fs	RIOK2_ENST00000283109.3_Intron|RIOK2_ENST00000508447.1_Intron																urinary_tract(1)	1						ACAGGAACGGCGGGTTTCTTAC	0.569													9	368	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.R18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	252	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													9	205	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G	rs140619532	by1000genomes	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													8	40	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.660													6	8	---	---	---	---					
LOC101929735	101929735	broad.mit.edu	37	14	22892202	22892202	+	RNA	DEL	A	A	-			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr14:22892202delA	ENST00000514473.2	-	0	225				AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA																							ctaaaaatacaaaaaaaaaaa	0.547													3	6	---	---	---	---					
SLC12A1	6557	broad.mit.edu	37	15	48559802	48559803	+	Frame_Shift_Ins	INS	-	-	A	rs150609105	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr15:48559802_48559803insA	ENST00000396577.3	+	18	2414_2415	c.2199_2200insA	c.(2200-2202)aaafs	p.K734fs	SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.K734fs|SLC12A1_ENST00000558405.1_Frame_Shift_Ins_p.K734fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	734					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGGCATGGCGAAAAAACAGGC	0.446													7	103	---	---	---	---					
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)cggfs	p.R486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594													7	196	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76920192	76920193	+	Translation_Start_Site	INS	-	-	TCATCAT			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:76920192_76920193insTCATCAT	ENST00000480283.1	-	0	4221_4222				ATRX_ENST00000395603.3_Frame_Shift_Ins_p.-1257fs|ATRX_ENST00000373344.5_Frame_Shift_Ins_p.-1295fs			P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTCTTCTGGCTCATCATCTGA	0.351			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						27	72	---	---	---	---					
