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
MSC	9242	broad.mit.edu	37	8	72756371	72756371	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr8:72756371G>A	uc003xyx.1	-	0	361	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_005098	NP_005089	O60682	MUSC_HUMAN	Homo sapiens musculin (MSC), mRNA.	15					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R15W(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCAGCCCCCGAAGCTCCATC	0.692000													4	21					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6597493	6597493	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:6597493G>A	uc002gdj.3	-	7	1167	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	SLC13A5_uc010clq.3_Missense_Mutation_p.A317V|SLC13A5_uc002gdk.3_Missense_Mutation_p.A343V|SLC13A5_uc010vtf.2_Missense_Mutation_p.A360V	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent citrate transporter), member 5 (SLC13A5), transcript variant 1, mRNA.	360						integral to membrane	citrate transmembrane transporter activity	p.A360V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CACAAAGATGGCCACAGTGGC	0.522000													6	28					0	0	1	0	0
CDKN2AIPNL	91368	broad.mit.edu	37	5	133747428	133747428	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr5:133747428G>A	uc011cxs.2	-	0	171	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_080656	NP_542387	Q96HQ2	C2AIL_HUMAN	Homo sapiens CDKN2A interacting protein N-terminal like (CDKN2AIPNL), mRNA.	40								p.R40C(2)		central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTCCATGCGGGCCTTCCAT	0.677000											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	32					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262388	167262388	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr2:167262388C>A	uc002udu.2	-	24	4881	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1584					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1584I(4)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACCCATAACTCTCTTTGTAAA	0.428000													51	357					0	0	1	0	0
CR627148	0	broad.mit.edu	37	9	66466226	66466226	+	RNA	SNP	A	A	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr9:66466226A>G	uc004aec.3	+	2		c.859A>G								Homo sapiens, clone IMAGE:5213378, mRNA.																		cctagcggagagagagccgga	0.453000													2	6					0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28929317	28929317	+	RNA	SNP	T	T	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr15:28929317T>G	uc010azc.3	+	13		c.2022T>G								Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		AGAATTATATTGAGATCTACT	0.363000													6	30					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427791	75427791	+	Silent	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr5:75427791C>T	uc003kei.1	+	1	350	c.216C>T	c.(214-216)gaC>gaT	p.D72D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	72					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D72D(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAACGATGACGAAGGCTCAA	0.498000													7	52					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117012	117012	+	RNA	SNP	C	C	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chrGL000205.1:117012C>A	uc002kgk.4	+	0		c.390C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACCAAAGAAGCTGTATTCCCT	0.478000													9	14					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540711	55540711	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr8:55540711T>A	uc003xsd.1	+	3	4417	c.4269T>A	c.(4267-4269)tgT>tgA	p.C1423*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1423					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.C1423*(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGAAAATTGTTCACTAAGGA	0.363000													15	110					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34112373	34112373	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:34112373G>A	uc001bxm.1	-	28	4826	c.4649C>T	c.(4648-4650)cCt>cTt	p.P1550L	CSMD2_uc001bxn.1_Missense_Mutation_p.P1510L|CSMD2_uc001bxo.1_Missense_Mutation_p.P423L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1510	CUB 9.					integral to membrane|plasma membrane	protein binding	p.P1510L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTATGAGAGGGCTGAGAGA	0.562000													4	35					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704167	52704167	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:52704167G>C	uc001cto.3	+	3	1250	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	ZFYVE9_uc001ctn.3_Missense_Mutation_p.D360H|ZFYVE9_uc001ctp.3_Missense_Mutation_p.D360H	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	360					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.D360H(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACGGTGTTCAGATTGCCTTGT	0.428000													17	206					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80401837	80401837	+	Silent	SNP	T	T	C	rs11557531	by1000genomes	TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:80401837T>C	uc002kex.3	-	1	904	c.162A>G	c.(160-162)ccA>ccG	p.P54P	C17orf62_uc002key.3_Silent_p.P54P|C17orf62_uc021ufq.1_3'UTR|C17orf62_uc010dir.3_3'UTR|C17orf62_uc021ufr.1_Silent_p.P54P|C17orf62_uc021ufs.1_3'UTR|C17orf62_uc002kfb.4_3'UTR|C17orf62_uc002kfc.4_3'UTR|C17orf62_uc002kfd.4_Silent_p.P54P|C17orf62_uc002kfa.3_3'UTR|C17orf62_uc002kfe.4_Silent_p.P54P|C17orf62_uc021uft.1_3'UTR|C17orf62_uc021ufu.1_Silent_p.P54P			Q9BQA9	CQ062_HUMAN	Homo sapiens chromosome 17 open reading frame 62 (C17orf62), transcript variant 11, non-coding RNA.	0						integral to membrane	protein binding	p.P92P(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAATGTGCCATGGGTCCTGTG	0.687000													14	274					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719865	95719865	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr10:95719865T>G	uc009xuj.2	-	0	1808	c.1289A>C	c.(1288-1290)tAc>tCc	p.Y430S						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		CAATGGCTGGTAAGTAATGCA	0.493000													6	42					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43276106	43276106	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr15:43276106C>T	uc001zqq.3	-	36	4205	c.4139G>A	c.(4138-4140)cGt>cAt	p.R1380H		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1380					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.R1380H(2)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGATAGAAGACGAACCAGATG	0.348000													5	50					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45762287	45762287	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr19:45762287C>T	uc002pbb.2	+	1	423	c.92C>T	c.(91-93)cCg>cTg	p.P31L	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.P31L	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	31					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.P31L(3)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GACAAAGGCCCGTCCTGGTCC	0.672000													6	26					0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832147	42832147	+	RNA	SNP	G	G	T	rs144592176	by1000genomes	TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr10:42832147G>T	uc010qey.2	-	2		c.1828C>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CACAATTGTAGGGTTTCTCTC	0.353000													3	9					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601572	75601572	+	Silent	SNP	C	C	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr12:75601572C>A	uc001sxg.1	-	1	736	c.192G>T	c.(190-192)ccG>ccT	p.P64P	KCNC2_uc009zry.3_Silent_p.P64P|KCNC2_uc001sxe.3_Silent_p.P64P|KCNC2_uc001sxf.3_Silent_p.P64P|KCNC2_uc010stw.1_Silent_p.P64P	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	64	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P64P(3)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						gcgctctcggcggcggcgaca	0.756000													2	0					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021050	132021050	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr2:132021050G>C	uc002tsn.2	+	14	2074	c.2022G>C	c.(2020-2022)aaG>aaC	p.K674N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.K274N|POTEE_uc002tsl.2_Missense_Mutation_p.K256N|POTEE_uc010fmy.1_Missense_Mutation_p.K138N	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	674							ATP binding	p.K674N(1)									TAAGAGAAAAGAAATATTTGG	0.383000													6	43					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51696475	51696475	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr12:51696475C>T	uc001ryg.3	-	3	359	c.307G>A	c.(307-309)Gta>Ata	p.V103I	BIN2_uc009zlz.3_Missense_Mutation_p.V103I|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.V77I	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	103	BAR.					cytoplasm	protein binding	p.V103I(2)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTTACCCATACGATGGCCTTC	0.448000													47	320					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1276943	1276943	+	Silent	SNP	C	C	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr20:1276943C>A	uc002wet.3	+	3	741	c.60C>A	c.(58-60)ggC>ggA	p.G20G	SNPH_uc002wes.3_Intron	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	0					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G20G(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTTCTGCGGGCCCCCCAACCC	0.687000													4	7					0	0	1	0	0
AK8	158067	broad.mit.edu	37	9	135702270	135702270	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr9:135702270T>G	uc004cbu.1	-	7	1284	c.728A>C	c.(727-729)gAc>gCc	p.D243A	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_Missense_Mutation_p.D39A	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	243						cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.D243A(6)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ACATGGCTGGTCAGCACTGAT	0.557000													15	168					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340051	116340051	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr7:116340051A>G	uc003vij.3	+	1	1100	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	MET_uc022akk.1_Missense_Mutation_p.K305E|MET_uc010lkh.3_Missense_Mutation_p.K305E|MET_uc011knc.1_Missense_Mutation_p.K305E|MET_uc011knd.2_Missense_Mutation_p.K305E|MET_uc011knf.2_Missense_Mutation_p.K305E|MET_uc011kne.2_Missense_Mutation_p.K305E|MET_uc011kng.1_Missense_Mutation_p.K305E|MET_uc011knh.1_Missense_Mutation_p.K305E|MET_uc011kni.2_Missense_Mutation_p.K305E|MET_uc003vii.1_Missense_Mutation_p.K324E|MET_uc010lkg.3_Missense_Mutation_p.K305E|MET_uc011kmz.1_Missense_Mutation_p.K305E|MET_uc011kna.1_Missense_Mutation_p.K305E|MET_uc011knb.1_Missense_Mutation_p.K305E	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	305	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.K305E(3)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGAAAAGAGAAAAAAGAGATC	0.428000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				11	202					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36935383	36935383	+	Silent	SNP	G	G	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:36935383G>T	uc001caw.2	-	10	1928	c.1344C>A	c.(1342-1344)ggC>ggA	p.G448G	CSF3R_uc001cav.2_Silent_p.G448G|CSF3R_uc001cax.2_Silent_p.G448G	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	448	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	p.G448G(3)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGGCTCCCAGCCTACCCAGA	0.602000													5	74					0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51768703	51768703	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr19:51768703C>T	uc002pwb.1	+	2	485	c.104C>T	c.(103-105)cCc>cTc	p.P35L	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	35						integral to membrane		p.P35L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						ATTCCCACACCCTCTGTGCAG	0.587000													29	152					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439357	14439357	+	RNA	SNP	C	C	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr21:14439357C>G	uc002yja.4	+	9		c.2875C>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGAATCAGCTCAATCAATCGC	0.279000													4	10					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48729540	48729540	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr15:48729540C>T	uc001zwx.2	-	51	6753	c.6358G>A	c.(6358-6360)Gga>Aga	p.G2120R	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2120					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G2120R(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCAGGTCCCACGATGATC	0.423000													3	59					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670136	95670136	+	Missense_Mutation	SNP	C	C	T	rs78561092	byFrequency	TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr14:95670136C>T	uc001yef.2	-	8	1666	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	517						integral to membrane	actin binding	p.R517H(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTCATCGTGGCGGGCTGTACT	0.458000													11	112					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38442585	38442585	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:38442585G>T	uc001cci.3	-	11	1100	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	SF3A3_uc010oik.2_Missense_Mutation_p.Q273K	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	326					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCATAGATCTGGGCTTCTAGA	0.403000													28	185					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35915489	35915489	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:35915489T>C	uc001byx.3	-	14	2590	c.2332A>G	c.(2332-2334)Acc>Gcc	p.T778A	KIAA0319L_uc001byw.3_Missense_Mutation_p.T220A|KIAA0319L_uc010ohv.1_Missense_Mutation_p.T420A	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	778	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding	p.T778A(3)|p.R777Q(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCACAGTGGTCCGGTCTGTG	0.488000													22	154					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156131152	156131152	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:156131152G>A	uc001fnl.3	+	8	1005	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	SEMA4A_uc009wrq.3_Missense_Mutation_p.E276K|SEMA4A_uc001fnm.3_Missense_Mutation_p.E276K|SEMA4A_uc001fnn.3_Missense_Mutation_p.E144K|SEMA4A_uc001fno.3_Missense_Mutation_p.E276K	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	276	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.E276K(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGTGGGCGGCGAAAAGCTGCT	0.726000													10	59					0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57290253	57290253	+	Silent	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr20:57290253C>T	uc010zzs.1	+	11	1538	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	NPEPL1_uc010zzr.2_Silent_p.A433A|NPEPL1_uc010gjo.2_Silent_p.A453A|NPEPL1_uc002xzp.3_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	481					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	p.A481A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TCGGTGTGGCCCTCCTGCTGG	0.672000													5	9					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114251487	114251487	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr4:114251487C>T	uc003ibe.4	+	26	3086	c.2986C>T	c.(2986-2988)Cgg>Tgg	p.R996W	ANK2_uc003ibd.4_Missense_Mutation_p.R987W|ANK2_uc003ibf.4_Missense_Mutation_p.R996W|ANK2_uc011cgc.2_Missense_Mutation_p.R205W|ANK2_uc003ibg.4_Missense_Mutation_p.R24W|ANK2_uc003ibc.2_Missense_Mutation_p.R972W|ANK2_uc011cgb.1_Missense_Mutation_p.R1011W	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	996	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R996W(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATTCCACCTCGGAAATGTAC	0.512000													7	59					0	0	1	0	0
MRPL28	10573	broad.mit.edu	37	16	418564	418564	+	Silent	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr16:418564C>T	uc002cgs.2	-	3	591	c.513G>A	c.(511-513)cgG>cgA	p.R171R		NM_006428	NP_006419	Q13084	RM28_HUMAN	Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), nuclear gene encoding mitochondrial protein, mRNA.	171					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.R171R(2)|p.R171W(1)		breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GGGGGTCCTGCCGGGCAAGCC	0.657000													7	64					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123834911	123834911	+	Silent	SNP	A	A	G			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr12:123834911A>G	uc010tap.2	-	0	78	c.78T>C	c.(76-78)atT>atC	p.I26I	SBNO1_uc010tao.2_Silent_p.I26I|SBNO1_uc010taq.2_5'UTR|SBNO1_uc001ueu.2_Silent_p.I26I|SBNO1_uc001uet.2_Silent_p.I26I|SBNO1_uc001uev.2_Silent_p.I26I|SBNO1_uc009zxy.1_Silent_p.I26I	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	26							ATP binding|DNA binding|hydrolase activity	p.I26I(3)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTCCACCATCAATATCAAAGA	0.438000													16	386					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175046577	175046577	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:175046577G>A	uc001gkl.1	+	1	136	c.23G>A	c.(22-24)cGc>cAc	p.R8H	TNN_uc010pmx.1_Missense_Mutation_p.R8H	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	8					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R8H(2)|p.R8S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGATGTTCCGCTTCCCTATG	0.572000													8	239					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138618	55138618	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr4:55138618C>T	uc003han.4	+	8	1626	c.1295C>T	c.(1294-1296)aCg>aTg	p.T432M	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.T326M|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	432	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.T432M(3)|p.Q431R(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGGGGACAGACGGTGAGGTGC	0.473000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			17	118					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866376	139866376	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chrX:139866376C>A	uc004fbg.1	-	0	348	c.156G>T	c.(154-156)ttG>ttT	p.L52F	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	52	23 X 6 AA approximate repeats.							p.L52F(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACGTCTTCCAACAAAGCCA	0.438000													37	101					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31676189	31676189	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chrX:31676189G>A	uc004dda.1	-	53	8189	c.7945C>T	c.(7945-7947)Cgg>Tgg	p.R2649W	DMD_uc004dcr.1_Missense_Mutation_p.R189W|DMD_uc004dcs.1_Missense_Mutation_p.R189W|DMD_uc004dct.1_Missense_Mutation_p.R189W|DMD_uc004dcu.1_Missense_Mutation_p.R189W|DMD_uc004dcv.1_Missense_Mutation_p.R189W|DMD_uc004dcw.2_Missense_Mutation_p.R1305W|DMD_uc004dcx.2_Missense_Mutation_p.R1308W|DMD_uc004dcz.2_Missense_Mutation_p.R2526W|DMD_uc004dcy.1_Missense_Mutation_p.R2645W|DMD_uc004ddb.1_Missense_Mutation_p.R2641W	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2649					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAATAATCCCGGAGAAGTTTC	0.393000													38	113					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86556150	86556150	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr7:86556150T>C	uc011kha.2	-	8	1357	c.1172A>G	c.(1171-1173)gAg>gGg	p.E391G	KIAA1324L_uc003uie.3_Missense_Mutation_p.E224G|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E277G|KIAA1324L_uc003uif.2_Missense_Mutation_p.E143G	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	391						integral to membrane		p.E151G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATCCTTCTTCTCTCCAGAAGG	0.428000													14	265					0	0	1	0	0
RNF26	79102	broad.mit.edu	37	11	119207000	119207000	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr11:119207000G>T	uc001pwh.3	+	0	1791	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	390							zinc ion binding	p.V390L(2)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GAGCAAGACAGTGTTGCTCCT	0.607000													16	95					0	0	1	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979764	12979764	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:12979764G>A	uc001aup.3	+	3	1039	c.956G>A	c.(955-957)cGt>cAt	p.R319H		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	319								p.R319H(2)				Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGCATCCGTCAATTAAAG	0.587000													8	309					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3494670	3494671	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr4:3494670_3494671insA	uc003ghd.3	+	6	1027_1028	c.957_958insA	c.(955-960)cccaagfs	p.P319fs	DOK7_uc003ghe.3_3'UTR|DOK7_uc003ghf.3_Frame_Shift_Ins_p.P61fs|DOK7_uc003ghg.1_Frame_Shift_Ins_p.P9fs	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	319	Ser-rich.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCACCCCCCAAGCCGCTGCG	0.688													3	5	---	---	---	---					
NEUROD2	4761	broad.mit.edu	37	17	37762300	37762308	+	In_Frame_Del	DEL	GGTCTGGCC	-	-			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:37762300_37762308delGGTCTGGCC	uc002hry.3	-	1	745_753	c.545_553delGGCCAGACC	c.(544-555)cggccagaccta>cta	p.RPD182del	NEUROD2_uc021tws.1_In_Frame_Del_p.RPD182del	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	182					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TAGGACACTAGGTCTGGCCGCTTGCCGGA	0.603													8	81	---	---	---	---					
ARFGAP3	26286	broad.mit.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr22:43213780delT	uc003bdd.2	-	9	1116	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	299					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363													7	389	---	---	---	---					
