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
C2orf44	80304	broad.mit.edu	37	2	24255782	24255782	+	Missense_Mutation	SNP	C	C	G	rs34186689		TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr2:24255782C>G	ENST00000295148.4	-	3	1910	c.1853G>C	c.(1852-1854)aGa>aCa	p.R618T	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	618							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCACCGCTCTTTTTTCAAC	0.368000			T	ALK	NSCLC								42	61					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419589	10419589	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr17:10419589G>A	ENST00000226207.5	-	4	369	c.275C>T	c.(274-276)gCc>gTc	p.A92V	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	92	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGTCATCATGGCCATGTCCTC	0.488000													47	91					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55703084	55703084	+	Silent	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr19:55703084G>A	ENST00000376350.3	-	11	2305	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	PTPRH_ENST00000263434.5_Silent_p.G583G	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	761					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACAGGAGGATGCCCACAAAGG	0.617000													15	34					0	0	1	0	0
ZSWIM7	125150	broad.mit.edu	37	17	15890610	15890610	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr17:15890610G>C	ENST00000399277.1	-	3	268	c.171C>G	c.(169-171)atC>atG	p.I57M	ZSWIM7_ENST00000486655.1_Missense_Mutation_p.I42M|ZSWIM7_ENST00000472495.1_Missense_Mutation_p.I57M|ZSWIM7_ENST00000399280.2_5'UTR	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	57					DNA recombination|DNA repair	nucleus	zinc ion binding			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TGGGTGATGAGATTAAGGTGA	0.458000													9	18					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087350	55087350	+	Silent	SNP	G	G	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr19:55087350G>T	ENST00000251377.3	+	7	1162	c.1029G>T	c.(1027-1029)ctG>ctT	p.L343L	LILRA2_ENST00000251376.3_Silent_p.L343L|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.L331L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L343L|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCTGCTGTGTCAGTCAC	0.582000													8	23					0.000157383	0.000167603	1	1	0
DLG3	1741	broad.mit.edu	37	X	69712062	69712062	+	Silent	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chrX:69712062G>A	ENST00000194900.4	+	12	2021	c.1680G>A	c.(1678-1680)gaG>gaA	p.E560E	DLG3_ENST00000374355.3_Silent_p.E205E|DLG3_ENST00000374360.3_Silent_p.E542E|DLG3_ENST00000542398.1_Silent_p.E59E			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	542	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CTGATGATGAGTGGTGGCAGG	0.527000													11	17					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39971377	39971377	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr19:39971377G>C	ENST00000314349.4	+	1	326	c.193G>C	c.(193-195)Ggt>Cgt	p.G65R		NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	41					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGATGCCTTTGGTCTCTCTCG	0.677000													5	20					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													4	62					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906112	906112	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr1:906112C>T	ENST00000379409.2	+	5	488	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.S153F|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S153F			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	153	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTCGAGGGGTCCCGAGAGCAC	0.667000													31	36					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40715858	40715858	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr12:40715858G>C	ENST00000298910.7	+	36	5250	c.5192G>C	c.(5191-5193)aGa>aCa	p.R1731T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1731					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CGCCCAAACAGAATGTATTGG	0.373000													30	43					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4458240	4458240	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr17:4458240C>T	ENST00000254718.4	-	2	516	c.210G>A	c.(208-210)atG>atA	p.M70I	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.M70I			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	70	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGCATATTTCATCTCGGACC	0.627000													16	16					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51367585	51367585	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr3:51367585T>C	ENST00000266037.9	+	33	3442	c.3419T>C	c.(3418-3420)aTt>aCt	p.I1140T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1140	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCGAGTTGATTGACAAGCTG	0.527000													3	2					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760837	6760837	+	Silent	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr19:6760837G>A	ENST00000245908.6	-	3	500	c.231C>T	c.(229-231)ctC>ctT	p.L77L	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	77	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCAGTTGAAAGAGGGCTGTGG	0.642000													37	70					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805910	70805910	+	Silent	SNP	T	T	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr5:70805910T>C	ENST00000358731.4	+	17	3254	c.2991T>C	c.(2989-2991)aaT>aaC	p.N997N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	997	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAGGGAAAATGGCCCAGAGG	0.463000													18	42					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	138876	138876	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr16:138876T>A	ENST00000399953.3	-	12	1766	c.1364A>T	c.(1363-1365)gAc>gTc	p.D455V	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.D276V	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	455							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GAGGGTCATGTCATCGCTGCT	0.627000													8	22					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													13	13					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220479251	220479251	+	Missense_Mutation	SNP	G	G	A	rs143777035	by1000genomes	TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr2:220479251G>A	ENST00000456909.1	+	23	2942	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q	STK11IP_ENST00000295641.10_Missense_Mutation_p.R962Q			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	962					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTACCTTCGGGCGTTCCTG	0.567000													17	23					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													3	21					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145150767	145150767	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr8:145150767C>G	ENST00000318911.4	+	2	234	c.161C>G	c.(160-162)tCc>tGc	p.S54C		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	54					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGCCTTTCCCGAGGCCGG	0.657000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	40					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63520561	63520561	+	Silent	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr11:63520561G>C	ENST00000377819.5	+	6	3052	c.2898G>C	c.(2896-2898)ctG>ctC	p.L966L	RTN3_ENST00000537981.1_Silent_p.L170L|RTN3_ENST00000356000.3_Silent_p.L189L|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Silent_p.L170L|RTN3_ENST00000339997.4_Silent_p.L947L|RTN3_ENST00000540798.1_Silent_p.L854L	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	966	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCATGTGGCTGATGACCTATG	0.423000													61	128					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113440874	113440874	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr12:113440874C>G	ENST00000392583.2	+	6	1353	c.1146C>G	c.(1144-1146)ttC>ttG	p.F382L	OAS2_ENST00000342315.4_Missense_Mutation_p.F382L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	382	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACTGCTTCCGACAATCAA	0.443000													43	323					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													4	135					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237842	23237842	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr22:23237842G>C	ENST00000532223.2	+	3	890	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Missense_Mutation_p.E205Q			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5		C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAGCACCGTGGAGAAGACAGT	0.612000													17	46					0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48982424	48982424	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr19:48982424G>C	ENST00000427476.1	+	12	1460	c.1160G>C	c.(1159-1161)aGa>aCa	p.R387T	CYTH2_ENST00000452733.2_Missense_Mutation_p.R386T	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	387					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTGGCAGCGAGAAAGAAGCGG	0.622000													32	44					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133634929	133634929	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr8:133634929T>C	ENST00000519595.1	-	7	940	c.842A>G	c.(841-843)aAa>aGa	p.K281R	LRRC6_ENST00000250173.1_Missense_Mutation_p.K281R|LRRC6_ENST00000518642.1_Missense_Mutation_p.K281R			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	281	Poly-Lys.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTCTTCTTTTTTTCACTTAA	0.378000													13	184					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Silent	SNP	C	C	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr1:176525627C>A	ENST00000367662.3	+	2	1333	c.169C>A	c.(169-171)Cga>Aga	p.R57R	PAPPA2_ENST00000367661.3_Silent_p.R57R	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567000													15	49					3.27435e-08	3.67804e-08	1	1	0
LILRA2	11027	broad.mit.edu	37	19	55087354	55087354	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr19:55087354C>A	ENST00000251377.3	+	7	1166	c.1033C>A	c.(1033-1035)Cag>Aag	p.Q345K	LILRA2_ENST00000251376.3_Missense_Mutation_p.Q345K|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.Q333K|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q345K|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGCTGTGTCAGTCACGGGG	0.587000													8	23					0.000157383	0.000167603	1	1	0
ADD3	120	broad.mit.edu	37	10	111872625	111872625	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr10:111872625G>A	ENST00000277900.8	+	3	651	c.286G>A	c.(286-288)Gat>Aat	p.D96N	ADD3_ENST00000360162.3_Missense_Mutation_p.D96N|ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000356080.4_Missense_Mutation_p.D96N	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	96						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GCAGATTGCAGATTACATCAT	0.393000													44	71					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660232	90660232	+	Silent	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr6:90660232G>A	ENST00000257749.4	-	7	2300	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	BACH2_ENST00000343122.3_Silent_p.D531D|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.D531D|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	531						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCCGCTCCCGTCCTCCGCGT	0.622000													13	25					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237640	23237640	+	Silent	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr22:23237640G>C	ENST00000532223.2	+	3	688	c.414G>C	c.(412-414)ctG>ctC	p.L138L	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Silent_p.L137L			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5		C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						TAGTGTGTCTGATCAGTGACT	0.602000													8	20					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557000													5	70					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24174967	24174967	+	Silent	SNP	G	G	A	rs146868469	byFrequency	TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr6:24174967G>A	ENST00000378454.3	-	10	1723	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	DCDC2_ENST00000378450.3_Silent_p.A227A	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	474					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TCTAAGCCACGGCAGCATAGT	0.363000													16	49					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195395440	195395440	+	RNA	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr3:195395440G>A	ENST00000445430.1	+	0	847																											CAGCACCAGCGACGGCACGGC	0.627000													4	43					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102968473	102968473	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chrX:102968473C>T	ENST00000372617.4	-	8	1478	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	TMEM31_ENST00000319560.6_Intron	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	353						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTGCCTTCTTCGAAGTCGTAT	0.517000													15	50					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48996748	48996748	+	Silent	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr4:48996748C>T	ENST00000226432.4	+	5	807	c.624C>T	c.(622-624)ctC>ctT	p.L208L	CWH43_ENST00000513409.1_Silent_p.L181L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	208					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGTGTTCCTCACCCACTGGG	0.542000													36	69					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11118744	11118744	+	Silent	SNP	G	G	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr16:11118744G>T	ENST00000409790.1	+	13	1733	c.1503G>T	c.(1501-1503)gtG>gtT	p.V501V	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.V483V	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	501								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCTGTTCGTGCTCTGCCTCC	0.547000													6	6					8.12818e-05	8.88681e-05	1	1	0
MAP7D1	55700	broad.mit.edu	37	1	36645617	36645617	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr1:36645617G>A	ENST00000316156.4	+	15	2803	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	MAP7D1_ENST00000373151.2_Missense_Mutation_p.E822K|MAP7D1_ENST00000373148.4_Missense_Mutation_p.E358K|MAP7D1_ENST00000373150.4_Missense_Mutation_p.E789K			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	822						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCCTTTGCAGAGGCAGAAGC	0.592000													9	17					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51429187	51429187	+	Silent	SNP	G	G	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr3:51429187G>T	ENST00000323686.4	+	1	457	c.357G>T	c.(355-357)ccG>ccT	p.P119P		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	119					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCCGCCTCCGCCACCGCCTG	0.791000													4	3					0.00024832	0.00025775	1	1	0
KYNU	8942	broad.mit.edu	37	2	143746426	143746426	+	Silent	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr2:143746426C>T	ENST00000375773.2	+	11	1014	c.915C>T	c.(913-915)ttC>ttT	p.F305F	KYNU_ENST00000264170.4_Intron|KYNU_ENST00000409512.1_Intron	NM_001032998.1	NP_001028170.1	Q16719	KYNU_HUMAN	kynureninase	305					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.F305L(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GATCGGAGTTCTTTAATTAGG	0.388000													21	33					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48494724	48494724	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr7:48494724C>T	ENST00000435803.1	+	43	12680	c.12656C>T	c.(12655-12657)aCg>aTg	p.T4219M	ABCA13_ENST00000544596.1_5'UTR	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4219					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCGCCGCACGCTGCGCGCC	0.706000													5	4					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970402	108970402	+	Silent	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr8:108970402C>T	ENST00000276659.5	-	5	1142	c.522G>A	c.(520-522)cgG>cgA	p.R174R	RSPO2_ENST00000378439.2_Silent_p.R110R|RSPO2_ENST00000517939.1_Silent_p.R107R|RSPO2_ENST00000517781.1_Silent_p.R110R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	174	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TAACAATTTGCCGTGTTCTGG	0.438000													5	156					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109740254	109740254	+	Silent	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr1:109740254C>T	ENST00000369939.3	+	16	2463	c.2280C>T	c.(2278-2280)gtC>gtT	p.V760V	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.V673V	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	760					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CACAGCCTGTCAGCCTTGCTG	0.527000													13	13					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82989872	82989872	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr11:82989872C>T	ENST00000529689.1	-	3	655	c.221G>A	c.(220-222)gGa>gAa	p.G74E	CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Splice_Site_p.G65E|CCDC90B_ENST00000529073.1_Splice_Site_p.G74E|CCDC90B_ENST00000529611.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	74						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTTGTCAAATCCTGTAGGCAG	0.323000													26	53					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72175947	72175947	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr15:72175947G>C	ENST00000356056.5	-	28	5858	c.5386C>G	c.(5386-5388)Cag>Gag	p.Q1796E	MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1867E|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1777E|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1796E	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1796	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGGAAACTGATGAGCTGGA	0.428000													3	48					0	0	1	0	0
GOLGA8M	653720	broad.mit.edu	37	15	23261850	23261850	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr15:23261850C>A	ENST00000450802.3	+	12	1060	c.962C>A	c.(961-963)gCg>gAg	p.A321E		NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1												p.A321E(2)									GTGGCAGGAGCGCTCCAGGCC	0.587000													7	32					0.00307968	0.00315667	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131817813	131817813	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr7:131817813C>T	ENST00000359827.3	-	31	6546	c.5584G>A	c.(5584-5586)Gag>Aag	p.E1862K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1862K			Q9HCM2	PLXA4_HUMAN	plexin A4	1862						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTACCTCCTCGCTGTATTTG	0.522000													31	39					0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79175932	79175932	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr13:79175932A>G	ENST00000377208.5	-	2	1089	c.878T>C	c.(877-879)cTg>cCg	p.L293P	RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	293	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GAGGTTGGCCAGCGCCGAGCC	0.667000													3	10					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196658681	196658681	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr1:196658681G>A	ENST00000367429.4	+	8	1336	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	CFH_ENST00000359637.2_Missense_Mutation_p.G302R|CFH_ENST00000439155.2_Missense_Mutation_p.G366R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	366	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GACTCCGTCAGGAAGTTACTG	0.398000													4	84					0	0	1	0	0
FAM69C	125704	broad.mit.edu	37	18	72103918	72103918	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr18:72103918C>T	ENST00000343998.6	-	4	1086	c.1078G>A	c.(1078-1080)Gcg>Acg	p.A360T	FAM69C_ENST00000400291.2_Missense_Mutation_p.A61T	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	360						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						TTGAGAGGCGCGGAAAACCAA	0.537000													7	18					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130383928	130383928	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr3:130383928G>A	ENST00000358511.6	+	35	6615	c.6584G>A	c.(6583-6585)cGa>cAa	p.R2195Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R2195Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2195	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGCCCCCACGACCATTCCGA	0.403000													6	7					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154014676	154014676	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chrX:154014676C>G	ENST00000413259.3	-	7	783		c.e7-1		MPP1_ENST00000369534.3_Splice_Site|MPP1_ENST00000462825.1_Splice_Site|MPP1_ENST00000393531.1_Intron	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa						regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCATGAACATCTAAAAAGAAG	0.468000													15	248					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075184	67075184	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr11:67075184G>A	ENST00000308127.4	+	7	945	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	SSH3_ENST00000532181.1_Intron|SSH3_ENST00000308298.7_Missense_Mutation_p.R256Q|SSH3_ENST00000376757.5_Missense_Mutation_p.R256Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	256					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGTCTCTGCGGCCTCCCAGC	0.652000													12	14					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27591263	27591263	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr2:27591263T>G	ENST00000493344.2	-	5	941	c.629A>C	c.(628-630)cAa>cCa	p.Q210P	EIF2B4_ENST00000451130.2_Missense_Mutation_p.Q209P|EIF2B4_ENST00000445933.2_Missense_Mutation_p.Q188P|EIF2B4_ENST00000347454.4_Missense_Mutation_p.Q189P			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	189					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGAGTTTTGTCTGCTGTA	0.413000													5	58					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46932392	46932392	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr22:46932392G>A	ENST00000262738.3	-	1	675	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	CELSR1_ENST00000395964.1_Missense_Mutation_p.R226W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	226					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ggccccgcccgggcTTCGGGC	0.746000													2	0					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926407	157926407	+	Silent	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr7:157926407G>A	ENST00000389413.3	-	9	1621	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	PTPRN2_ENST00000404321.2_Silent_p.S529S|PTPRN2_ENST00000389418.4_Silent_p.S506S|PTPRN2_ENST00000389416.4_Silent_p.S489S|PTPRN2_ENST00000409483.1_Silent_p.S468S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	506						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCTCTTCCTCGGAAGGCTGGA	0.637000													23	31					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516175	78516175	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr12:78516175G>C	ENST00000397909.2	+	16	4378	c.4205G>C	c.(4204-4206)aGa>aCa	p.R1402T	NAV3_ENST00000228327.6_Missense_Mutation_p.R1402T|NAV3_ENST00000536525.2_Missense_Mutation_p.R1402T|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1402	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGCTCATGAGAACGGGTAGT	0.557000										HNSCC(70;0.22)			33	110					0	0	1	0	0
PHYHD1	254295	broad.mit.edu	37	9	131702920	131702920	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr9:131702920C>T	ENST00000372592.3	+	11	1562	c.629C>T	c.(628-630)gCg>gTg	p.A210V	PHYHD1_ENST00000353176.5_Missense_Mutation_p.A189V|PHYHD1_ENST00000421063.2_Missense_Mutation_p.A189V|PHYHD1_ENST00000308941.5_Missense_Mutation_p.R203C|PHYHD1_ENST00000487504.1_3'UTR	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						GTTGGCTCAGCGCCTGGTACC	0.602000													22	31					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40803506	40803506	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr22:40803506G>T	ENST00000248929.9	+	13	1647	c.1458G>T	c.(1456-1458)aaG>aaT	p.K486N	SGSM3_ENST00000454798.2_Missense_Mutation_p.K419N	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	486	SH3.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCCGAGCCAAGGCCCTGCTGG	0.642000													8	19					0.0581538	0.0581538	1	1	0
ARNT	405	broad.mit.edu	37	1	150830885	150830885	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr1:150830885G>C	ENST00000358595.5	-	2	277	c.77C>G	c.(76-78)tCt>tGt	p.S26C	ARNT_ENST00000505755.1_Missense_Mutation_p.S26C|ARNT_ENST00000515192.1_Missense_Mutation_p.S17C|ARNT_ENST00000354396.2_Missense_Mutation_p.S26C	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	26					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCAGGTCCAGAGTTTCCAGA	0.438000			T	ETV6	AML								17	16					0	0	1	0	0
AHR	196	broad.mit.edu	37	7	17369593	17369593	+	Silent	SNP	G	G	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr7:17369593G>A	ENST00000242057.4	+	5	1111	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	156	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TCATACATCAGAGTGTATATG	0.348000													23	57					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	74					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56434995	56434995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr15:56434995C>A	ENST00000423270.1	-	4	381	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	RFX7_ENST00000559447.2_Nonsense_Mutation_p.E31*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.E31*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.E128*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	31					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCATAGACTTCCTGTTTGGGC	0.393000													6	14					3.59834e-05	3.98735e-05	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	15					0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31263362	31263362	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr17:31263362C>G	ENST00000579849.1	+	6	741	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	TMEM98_ENST00000394642.3_Missense_Mutation_p.L104V|TMEM98_ENST00000578289.1_Missense_Mutation_p.L104V	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	104				L -> P (in Ref. 2; CAB56018).		endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TTGTCACACTCTGACAGAGAA	0.582000													19	42					0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3821774	3821774	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr10:3821774G>C	ENST00000497571.1	-	4	1069	c.809C>G	c.(808-810)tCc>tGc	p.S270C	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Missense_Mutation_p.P229A	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	270					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GTCAGACCTGGAAAAACACCT	0.587000													19	19					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692346	116692346	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr11:116692346C>T	ENST00000357780.3	-	3	542	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GACCTGGGTGCGCAGCTGGTC	0.687000													7	26					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35044991	35044991	+	Silent	SNP	A	A	G			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr15:35044991A>G	ENST00000290374.4	-	2	1130	c.654T>C	c.(652-654)taT>taC	p.Y218Y		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	218					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CATAGAGAAAATATTGGCCAA	0.493000													3	30					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.E1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													7	58	---	---	---	---					
COL1A2	1278	broad.mit.edu	37	7	94047132	94047132	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr7:94047132delA	ENST00000297268.6	+	32	2431	c.1960delA	c.(1960-1962)aagfs	p.K654fs		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	654					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACCTGGAGGCAAGGGAGAAAA	0.522										HNSCC(75;0.22)			2	4	---	---	---	---					
GLIPR1L1	256710	broad.mit.edu	37	12	75737490	75737492	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr12:75737490_75737492delAGC	ENST00000312442.2	+	2	238_240	c.192_194delAGC	c.(190-195)ttagca>tta	p.A65del	GLIPR1L1_ENST00000378695.4_In_Frame_Del_p.A65del|CAPS2_ENST00000442339.2_Intron	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	65						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						ATAAAGGTTTAGCAAAGATGGCT	0.276													13	133	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671097	25671098	+	Frame_Shift_Ins	INS	-	-	T	rs140090397	by1000genomes	TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chr13:25671097_25671098insT	ENST00000281589.3	+	1	798_799	c.761_762insT	c.(760-765)aaggagfs	p.KE254fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	254	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATGAATGGAAAGGAGCTCAATG	0.401													12	109	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44923050	44923050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9SH-01A-11D-A391-08	TCGA-XF-A9SH-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2a5b418-607c-4ffb-b285-674e29956852	ee895a66-5d54-4d24-af0d-2b416d92b7ed	g.chrX:44923050delT	ENST00000377967.4	+	16	1952	c.1911delT	c.(1909-1911)tctfs	p.S637fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.S644fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.S592fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.S558fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	637					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACCAACTATCTAACTCCACTC	0.453			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								7	5	---	---	---	---					
