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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC35A1	10559	broad.mit.edu	37	6	88187186	88187186	+	Silent	SNP	C	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:88187186C>G	uc011dzj.2	+	1	202	c.123C>G	c.(121-123)ctC>ctG	p.L41L	SLC35A1_uc003plx.3_Non-coding_Transcript|SLC35A1_uc010kbw.3_5'UTR|SLC35A1_uc010kby.3_Non-coding_Transcript|SLC35A1_uc003plz.3_Non-coding_Transcript|SLC35A1_uc011dzi.2_5'UTR|SLC35A1_uc010kbx.3_Silent_p.L41L|SLC35A1_uc003ply.3_Non-coding_Transcript|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_006416	NP_006407	P78382	S35A1_HUMAN	Homo sapiens solute carrier family 35 (CMP-sialic acid transporter), member A1 (SLC35A1), transcript variant 1, mRNA.	41					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACAAAGAACTCTACTTTTCAA	0.358000														114			6		0	0	0.004482	0	0
CAMTA2	23125	broad.mit.edu	37	17	4872990	4872990	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr17:4872990G>A	uc010cku.2	-	18	3677	c.3265C>T	c.(3265-3267)Cgg>Tgg	p.R1089W	SPAG7_uc002gae.3_5'Flank|SPAG7_uc002gaf.3_5'Flank|DQ588877_uc021tof.1_5'Flank|CAMTA2_uc002gag.2_Missense_Mutation_p.R1065W|CAMTA2_uc002gah.2_Missense_Mutation_p.R1066W|CAMTA2_uc002gai.2_Missense_Mutation_p.R1068W	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	1066					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCCTTCAGCCGCCGGCCCTGA	0.542000														101			3		0	0	0.009096	0	0
ZNF845	91664	broad.mit.edu	37	19	53855196	53855196	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:53855196T>C	uc010ydv.1	+	3	1385	c.1268T>C	c.(1267-1269)aTg>aCg	p.M423T	ZNF845_uc010ydw.1_Missense_Mutation_p.M423T	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTCAGTCAGATGTCATCCCTT	0.408000														125			4		0	0	0.014758	0	0
NPIP	9284	broad.mit.edu	37	16	15026513	15026513	+	RNA	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr16:15026513C>T	uc002dcx.4	+	6		c.1161C>T						Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											GAGCCTTCCACCGCAACAGTC	0.632000														57			3		0	0	0.009096	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000														20			3		0	0	0.004672	0	0
C2orf18	54978	broad.mit.edu	37	2	26998075	26998075	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:26998075T>C	uc002rhp.1	+	2	390	c.314T>C	c.(313-315)aTg>aCg	p.M105T	C2orf18_uc002rhq.1_Intron|C2orf18_uc010eyo.1_Missense_Mutation_p.M52T|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA.	105	DUF6.					integral to membrane|lysosomal membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGCCTCATGTATGTGGGT	0.597000														100			3		0	0	0.014758	0	0
RAF1	5894	broad.mit.edu	37	3	12653552	12653552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:12653552G>A	uc003bxf.4	-	2	632	c.217C>T	c.(217-219)Cga>Tga	p.R73*	RAF1_uc011aut.2_5'Flank|RAF1_uc011auu.2_Intron	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	73	RBD.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATTCCATTTCGCACATTGACC	0.498000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					109			5		0	0	0.021553	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	C	C	rs142470496	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						81			6		0	0	0.013537	0	0
FAM217B	63939	broad.mit.edu	37	20	58520040	58520040	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:58520040G>A	uc021wft.1	+	0	1042	c.1042G>A	c.(1042-1044)Gca>Aca	p.A348T	FAM217B_uc002yba.3_Missense_Mutation_p.A348T|FAM217B_uc002ybc.3_Missense_Mutation_p.A348T|FAM217B_uc010zzx.2_Missense_Mutation_p.A191T	NM_001190827	NP_001177756	Q9NTX9	CT177_HUMAN	Homo sapiens chromosome 20 open reading frame 177 (C20orf177), transcript variant 3, mRNA.	348																	ACAAGCACATGCACATCCTAG	0.458000														76			15		0	0	0.010504	0	0
COQ3	51805	broad.mit.edu	37	6	99817516	99817516	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:99817516G>A	uc003ppk.3	-	6	1097	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	Homo sapiens coenzyme Q3 homolog, methyltransferase (S. cerevisiae) (COQ3), mRNA.	357					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ATTGGTGCAGGCATTAGCTTG	0.403000														182			42		0	0	0.014410	0	0
ZNF844	284391	broad.mit.edu	37	19	12187502	12187502	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:12187502A>G	uc002mtb.2	+	3	1710	c.1567A>G	c.(1567-1569)Aaa>Gaa	p.K523E	ZNF844_uc010dym.1_Missense_Mutation_p.K366E	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K523E(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CAAATGCATGAAAGGACTCAC	0.413000														37			3		0	0	0.004672	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572530	127572530	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:127572530T>C	uc004bov.3	+	7	1911	c.1798T>C	c.(1798-1800)Tac>Cac	p.Y600H	OLFML2A_uc004bow.3_Missense_Mutation_p.Y386H	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	600	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAGGTCGCCTACGCTTTCGA	0.637000														59			19		0	0	0.010504	0	0
IL1RL2	8808	broad.mit.edu	37	2	102808543	102808543	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:102808543C>T	uc002tbs.3	+	3	578	c.452C>T	c.(451-453)cCg>cTg	p.P151L	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	151	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.P151Q(2)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTGCACTTCCCGAAGAGTTGT	0.328000														78			3		0	0	0.004672	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748620	79748620	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:79748620C>A	uc002bew.1	+	1	206	c.131C>A	c.(130-132)gCc>gAc	p.A44D	KIAA1024_uc010unk.1_Missense_Mutation_p.A44D	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	44						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGCAGCTTGCCAAACTGAGA	0.468000														104			34		4.32679e-17	4.81662e-17	0.027894	1	0
MUC16	94025	broad.mit.edu	37	19	9048771	9048771	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:9048771A>G	uc002mkp.3	-	4	33064	c.32860T>C	c.(32860-32862)Ttt>Ctt	p.F10954L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10956	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAAGAGAAAAAGTCAGAATT	0.483000														155			4		0	0	0.014758	0	0
ELTD1	64123	broad.mit.edu	37	1	79383689	79383689	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:79383689G>C	uc001diq.4	-	10	1664	c.1508C>G	c.(1507-1509)gCt>gGt	p.A503G		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	503					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAAAAGCAGCTAAAAAGAA	0.333000														102			13		0	0	0.020292	0	0
TRIP12	9320	broad.mit.edu	37	2	230723871	230723871	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:230723871G>A	uc002vpx.1	-	3	753	c.644C>T	c.(643-645)gCg>gTg	p.A215V	TRIP12_uc021vxw.1_Missense_Mutation_p.A173V|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Missense_Mutation_p.A173V|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Missense_Mutation_p.A173V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	173					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGTAGGTTTCGCAGATCTCTC	0.507000														45			17		0	0	0.014323	0	0
TMEM14E	645843	broad.mit.edu	37	3	152058574	152058574	+	Silent	SNP	A	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:152058574A>G	uc010hvo.3	-	0	206	c.120T>C	c.(118-120)tcT>tcC	p.S40S	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	40						integral to membrane				lung(1)	1						AGAATCCAGCAGAAGGGGACT	0.488000														79			21		0	0	0.034045	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:37430948C>G	uc021ppc.1	+	6	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_uc001iza.1_Missense_Mutation_p.P319A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423000														105			4		0	0	0.029380	0	0
GNRHR	2798	broad.mit.edu	37	4	68606313	68606313	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:68606313C>T	uc003hdn.3	-	2	2623	c.872G>A	c.(871-873)tGg>tAg	p.W291*	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Silent_p.L248L|BC045560_uc003hdo.1_5'Flank	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	291					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGGATCAAACCAATACCAAAT	0.403000														279			17		0	0	0.008871	0	0
TREML2	79865	broad.mit.edu	37	6	41165998	41165998	+	Silent	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:41165998G>A	uc010jxm.1	-	1	404	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	75	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.G74V(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGTAGCGGGGCCCTTTCA	0.572000														177			11		0	0	0.013537	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116292	129116292	+	RNA	SNP	A	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:129116292A>C	uc003eme.1	-	0		c.506T>G			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron|RPL32P3_uc003emf.2_5'Flank					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						AGCAAATCCCACCCTGCCAGT	0.512000														67			13		0	0	0.037714	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	A	A	rs146546850	byFrequency	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr22:29091841G>A	uc003adu.1	-	10	1188	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adx.1_Silent_p.S151S	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	372	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						81			6		0	0	0.013537	0	0
FILIP1	27145	broad.mit.edu	37	6	76023092	76023092	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:76023092G>A	uc010kbe.3	-	5	2995	c.2465C>T	c.(2464-2466)aCg>aTg	p.T822M	FILIP1_uc003phy.1_Missense_Mutation_p.T819M|FILIP1_uc003phz.3_Missense_Mutation_p.T720M|FILIP1_uc003pia.3_Missense_Mutation_p.T819M|FILIP1_uc003pib.1_Missense_Mutation_p.T571M	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	819										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TACAGCTGGCGTTTCTTCCTC	0.463000														288			9		0	0	0.008291	0	0
RFT1	91869	broad.mit.edu	37	3	53126463	53126463	+	Silent	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:53126463C>T	uc003dgj.3	-	11	1434	c.1380G>A	c.(1378-1380)agG>agA	p.R460R		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	460					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGCCAGGGGCCTGTGGGGGC	0.592000														10			6		0	0	0.029380	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40694	40694	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chrGL000218.1:40694C>T	uc011mfn.2	-	2	325	c.236G>A	c.(235-237)cGc>cAc	p.R79H	LOC100233156_uc003jah.2_Missense_Mutation_p.R79H					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TTCCTCACAGCGGCGCCCGAA	0.667000														24			3		0	0	0.009096	0	0
NBAS	51594	broad.mit.edu	37	2	15523366	15523366	+	Silent	SNP	T	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:15523366T>C	uc002rcc.1	-	28	3359	c.3333A>G	c.(3331-3333)acA>acG	p.T1111T	NBAS_uc010exl.1_Silent_p.T183T|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1111										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATCTAGACATGTGTATACAT	0.348000														90			30		0	0	0.025465	0	0
FBLN2	2199	broad.mit.edu	37	3	13679124	13679124	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:13679124C>T	uc011avc.2	+	17	3783	c.3401C>T	c.(3400-3402)aCg>aTg	p.T1134M	FBLN2_uc011auz.2_Missense_Mutation_p.T1113M|FBLN2_uc011avb.2_Missense_Mutation_p.T1087M|FBLN2_uc011ava.2_Missense_Mutation_p.T1134M	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1087	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCGCATCACGCACTACCAG	0.657000														81			7		0	0	0.004482	0	0
RBBP8	5932	broad.mit.edu	37	18	20602227	20602227	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr18:20602227G>A	uc002kua.3	+	17	2728	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	RBBP8_uc002ktw.3_Missense_Mutation_p.E864K|RBBP8_uc002kty.3_Missense_Mutation_p.E864K|RBBP8_uc002ktz.3_Nonsense_Mutation_p.W831*|RBBP8_uc010xap.2_Missense_Mutation_p.E202K	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	864					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GACTTGTATGGAAAGAGGTGA	0.418000								Homologous recombination						96			22		0	0	0.027356	0	0
NCOR1	9611	broad.mit.edu	37	17	15978996	15978996	+	Silent	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr17:15978996C>T	uc002gpo.3	-	26	3791	c.3522G>A	c.(3520-3522)caG>caA	p.Q1174Q	NCOR1_uc002gpn.3_Silent_p.Q1190Q|NCOR1_uc002gpp.1_Silent_p.Q1081Q|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Silent_p.Q82Q|NCOR1_uc010vwc.2_5'UTR	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1174	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTATGCCAGTCTGGGGCAGAG	0.493000														114			5		0	0	0.021553	0	0
APOB	338	broad.mit.edu	37	2	21230343	21230343	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:21230343G>A	uc002red.3	-	25	9525	c.9397C>T	c.(9397-9399)Cct>Tct	p.P3133S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3133					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGCATTTCAGGAATTGTTAAA	0.373000														119			34		0	0	0.019004	0	0
KLKB1	3818	broad.mit.edu	37	4	187173195	187173195	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:187173195G>A	uc003iyy.3	+	10	1240	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KLKB1_uc011clc.2_Missense_Mutation_p.R188H|KLKB1_uc011cld.2_Missense_Mutation_p.R352H	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	390					Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.R390H(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAAGCACACGCATTGTTGGA	0.502000														131			5		0	0	0.014758	0	0
MUC16	94025	broad.mit.edu	37	19	9048764	9048764	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:9048764A>G	uc002mkp.3	-	4	33071	c.32867T>C	c.(32866-32868)cTt>cCt	p.L10956P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10958	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTCACCAAGAGAAAAAGT	0.498000														152			4		0	0	0.014758	0	0
GTF2F1	2962	broad.mit.edu	37	19	6380648	6380648	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:6380648G>A	uc002meq.2	-	11	1570	c.1285C>T	c.(1285-1287)Ccc>Tcc	p.P429S	GTF2F1_uc010xjb.1_Missense_Mutation_p.P250S|GTF2F1_uc010xjc.1_Missense_Mutation_p.P344S	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	429					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						AGGCTCTGGGGTCCCGTGTCC	0.647000														95			4		0	0	0.009096	0	0
C3orf35	339883	broad.mit.edu	37	3	37458938	37458938	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:37458938A>G	uc003cha.4	+	4	845	c.181A>G	c.(181-183)Agt>Ggt	p.S61G	C3orf35_uc003chb.3_Missense_Mutation_p.S61G|C3orf35_uc021wvg.1_Missense_Mutation_p.S61G	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN	Homo sapiens chromosome 3 open reading frame 35 (C3orf35), transcript variant B, mRNA.	61						integral to membrane		p.G60C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGCAGGGCAGTGCTCAGCA	0.463000														77			26		0	0	0.030593	0	0
HAUS4	54930	broad.mit.edu	37	14	23416936	23416936	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr14:23416936A>C	uc001whw.3	-	7	962	c.713T>G	c.(712-714)cTt>cGt	p.L238R	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Missense_Mutation_p.L238R|HAUS4_uc001whu.3_Missense_Mutation_p.L193R|HAUS4_uc001whv.3_Missense_Mutation_p.L114R|HAUS4_uc001whq.3_Missense_Mutation_p.L112R	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	238					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCAGCGGAGAAGCACCTGAGC	0.507000														85			27		0	0	0.034045	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									88			27		0	0	0.010818	0	0
PDP2	57546	broad.mit.edu	37	16	66919405	66919405	+	Silent	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr16:66919405C>T	uc021tjw.1	+	0	1218	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	PDP2_uc002eqk.2_Silent_p.F406F	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	406					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGGATAAGTTCCTTGTGCTGG	0.567000														94			38		0	0	0.033182	0	0
ZAN	7455	broad.mit.edu	37	7	100349878	100349878	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:100349878C>T	uc003uwj.3	+	13	2315	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L	ZAN_uc003uwk.3_Missense_Mutation_p.P717L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	717	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P717L(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACCCACCATCCCC	0.507000														91			4		0	0	0.009096	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				60			9		0	0	0.010729	0	0
H3F3C	440093	broad.mit.edu	37	12	31944718	31944718	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr12:31944718C>T	uc001rkr.3	-	0	458	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	128					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CCGTATCCGGCGAGCCAACTG	0.443000										HNSCC(67;0.2)				151			27		0	0	0.019004	0	0
RNF144A	9781	broad.mit.edu	37	2	7164513	7164513	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:7164513A>G	uc002qys.3	+	6	965	c.523A>G	c.(523-525)Atg>Gtg	p.M175V		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	175						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCTTTCAAAATGGAAGAAGA	0.567000														65			20		0	0	0.018920	0	0
MYL10	93408	broad.mit.edu	37	7	101267513	101267513	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:101267513C>T	uc003uyr.3	-	1	288	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	37						mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GCTGGCGGTGCCTTCTGCTCT	0.587000														64			21		0	0	0.027356	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														51			5		0	0	0.014758	0	0
ANO3	63982	broad.mit.edu	37	11	26663556	26663556	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:26663556T>C	uc001mqt.4	+	21	2400	c.2255T>C	c.(2254-2256)aTg>aCg	p.M752T	ANO3_uc010rdr.2_Missense_Mutation_p.M736T|ANO3_uc010rds.2_Missense_Mutation_p.M591T|ANO3_uc010rdt.2_Missense_Mutation_p.M606T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	752						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATGGACTGATGGATGAGTAC	0.413000														105			4		0	0	0.014758	0	0
VDAC2	7417	broad.mit.edu	37	10	76980618	76980618	+	Silent	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:76980618G>A	uc001jxa.3	+	7	1074	c.519G>A	c.(517-519)gaG>gaA	p.E173E	VDAC2_uc021ptp.1_Silent_p.E158E|VDAC2_uc010qld.2_Silent_p.E119E|VDAC2_uc001jwz.3_Silent_p.E158E|VDAC2_uc010qle.2_Silent_p.E119E	NM_001184783	NP_001171712	P45880	VDAC2_HUMAN	Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	158						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGGTTATGAGGGCTGGCTTG	0.468000														44			12		0	0	0.012319	0	0
GLUD1	2746	broad.mit.edu	37	10	88835744	88835744	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:88835744A>C	uc001keh.3	-	2	813	c.563T>G	c.(562-564)aTc>aGc	p.I188S	GLUD1_uc001keg.3_Missense_Mutation_p.I21S|GLUD1_uc010qmp.2_Missense_Mutation_p.I55S	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	188					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTGGGATTGATCTTAACACC	0.353000														127			22		0	0	0.021523	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														74			5		0	0	0.014758	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	Silent	SNP	T	G	G			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:75476630T>G	uc003dpp.4	-	5	794	c.435A>C	c.(433-435)gtA>gtC	p.V145V	FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Silent_p.V53V|FAM86DP_uc003dpr.4_Intron					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582000														49			6		0	0	0.021553	0	0
GIPR	2696	broad.mit.edu	37	19	46180213	46180213	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:46180213G>A	uc002pcu.1	+	7	739	c.640G>A	c.(640-642)Gct>Act	p.A214T	GIPR_uc002pct.1_Missense_Mutation_p.A214T|GIPR_uc010xxp.1_Missense_Mutation_p.A178T|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642B_uc021uvy.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	214					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTAGGCCCTCGCTGCCTGCCG	0.662000														62			3		0	0	0.009096	0	0
MYD88	4615	broad.mit.edu	37	3	38180395	38180395	+	Silent	SNP	G	A	A			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:38180395G>A	uc003chx.3	+	0	427	c.243G>A	c.(241-243)gcG>gcA	p.A81A	ACAA1_uc003cht.3_5'Flank|ACAA1_uc003chu.3_5'Flank|MYD88_uc011ayh.2_Silent_p.A81A|MYD88_uc011ayi.2_Silent_p.A81A|MYD88_uc011ayj.2_Silent_p.A81A|MYD88_uc011ayk.2_Silent_p.A81A|MYD88_uc011ayl.2_Silent_p.A81A	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	68	Death.				3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGACACAAGCGGACCCCACTG	0.657000			Mis		ABC-DLBCL									92			3		0	0	0.009096	0	0
EIF2C1	26523	broad.mit.edu	37	1	36359738	36359739	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:36359738_36359739delCT	uc001bzl.3	+	5	963_964	c.750_751delCT	c.(748-753)gactctfs	p.D250fs	EIF2C1_uc001bzk.3_Frame_Shift_Del_p.D175fs|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	250	PAZ.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTCACGGACTCTCAGCGCGT	0.550													---	49	---	---	11	---					
FUBP1	8880	broad.mit.edu	37	1	78422330	78422331	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:78422330_78422331delAT	uc001dii.3	-	16	1720_1721	c.1631_1632delAT	c.(1630-1632)tatfs	p.Y544fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.Y565fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	544	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTGTTGATAATAGTGAGCGTA	0.431			"""F, N"""		oligodendroglioma								---	74	---	---	36	---					
CFH	3075	broad.mit.edu	37	1	196694339	196694341	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:196694339_196694341delCTC	uc001gtj.4	+	11	2025_2027	c.1785_1787delCTC	c.(1783-1788)ttctcc>ttc	p.S596del	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	596	Sushi 10.				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						TGTTGAAATTCTCCTGCAAACCA	0.394													---	99	---	---	24	---					
PTCD3	55037	broad.mit.edu	37	2	86355071	86355074	+	Frame_Shift_Del	DEL	GCTT	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:86355071_86355074delGCTT	uc002sqw.2	+	13	1170_1173	c.1104_1107delGCTT	c.(1102-1107)tcgcttfs	p.S368fs	PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	368						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACCCTCGCTTGCAACATATC	0.333													---	189	---	---	23	---					
ACTL6A	86	broad.mit.edu	37	3	179301185	179301186	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:179301185_179301186delAC	uc003fjw.3	+	11	1244_1245	c.1071_1072delAC	c.(1069-1074)atacagfs	p.I357fs	ACTL6A_uc003fjx.3_Frame_Shift_Del_p.I315fs|ACTL6A_uc003fjy.3_Frame_Shift_Del_p.I315fs	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	357					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACACACTAATACAGAGTTTTAC	0.347													---	298	---	---	16	---					
ANKRD17	26057	broad.mit.edu	37	4	73963819	73963820	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:73963819_73963820delTC	uc003hgp.3	-	25	5108_5109	c.4991_4992delGA	c.(4990-4992)agafs	p.R1664fs	ANKRD17_uc003hgo.3_Frame_Shift_Del_p.R1551fs|ANKRD17_uc003hgq.3_Frame_Shift_Del_p.R1413fs|ANKRD17_uc003hgr.3_Frame_Shift_Del_p.R1663fs	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1664	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACAGATTTTCTCTCTTCCTT	0.361													---	183	---	---	34	---					
HDAC2	3066	broad.mit.edu	37	6	114270202	114270203	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:114270202_114270203delTG	uc003pwd.2	-	7	1068_1069	c.781_782delCA	c.(781-783)cagfs	p.Q261fs	HDAC2_uc003pwc.2_Frame_Shift_Del_p.Q231fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.Q231fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	261	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.Q261P(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TGCACCACACTGTAATACCACA	0.371													---	322	---	---	7	---					
NEUROD6	63974	broad.mit.edu	37	7	31378576	31378577	+	Frame_Shift_Del	DEL	CG	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:31378576_31378577delCG	uc003tch.3	-	1	659_660	c.306_307delCG	c.(304-309)cgcgagfs	p.R102fs	NEUROD6_uc022abi.1_Frame_Shift_Del_p.R102fs	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	102					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTCG	0.470													---	316	---	---	8	---					
CLIP2	7461	broad.mit.edu	37	7	73795186	73795187	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:73795186_73795187delTG	uc003uam.3	+	10	2799_2800	c.2472_2473delTG	c.(2470-2475)actgtgfs	p.T824fs	CLIP2_uc003uan.3_Frame_Shift_Del_p.T789fs|CLIP2_uc003uao.3_Frame_Shift_Del_p.T218fs	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	824						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGGAAACTGTGGAGGGTGA	0.579													---	199	---	---	63	---					
OTUB1	55611	broad.mit.edu	37	11	63764577	63764579	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:63764577_63764579delCCT	uc001nyf.1	+	5	1083_1085	c.479_481delCCT	c.(478-483)gcctcc>gcc	p.S161del	OTUB1_uc001nyg.1_In_Frame_Del_p.S204del|OTUB1_uc010rna.1_In_Frame_Del_p.S170del|OTUB1_uc009ypb.1_In_Frame_Del_p.S131del	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 1, mRNA.	161	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GACCTGCTGGCCTCCTTCAATGA	0.591													---	258	---	---	50	---					
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	219	---	---	13	---					
SIN3A	25942	broad.mit.edu	37	15	75682071	75682090	+	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT	uc002bai.3	-	15	3183_3202	c.2924_2943delACTCATCACAGTATGAAGAT	c.(2923-2943)gactcatcacagtatgaagatfs	p.D975fs	SIN3A_uc002baj.3_Frame_Shift_Del_p.D975fs|SIN3A_uc010uml.2_Frame_Shift_Del_p.D975fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	975					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCTCAGTGAATCTTCATACTGTGATGAGTCTATGTTGCC	0.491													---	188	---	---	10	---					
CIC	23152	broad.mit.edu	37	19	42793443	42793444	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:42793443_42793444insC	uc002otf.1	+	7	1285_1286	c.1245_1246insC	c.(1243-1248)cggcccfs	p.R415fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACTGGGCGGCCCCCGCTGCT	0.644			"""Mis, F, S"""		oligodendroglioma								---	45	---	---	14	---					
PANK2	80025	broad.mit.edu	37	20	3891325	3891328	+	Frame_Shift_Del	DEL	TTAC	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:3891325_3891328delTTAC	uc002wkc.3	+	2	1089_1092	c.1083_1086delTTAC	c.(1081-1086)tattacfs	p.Y361fs	PANK2_uc002wkb.3_Frame_Shift_Del_p.Y70fs|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_Frame_Shift_Del_p.Y70fs|PANK2_uc002wkf.3_5'UTR	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	361					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACAGTGCTATTACTTTGAAAACC	0.402													---	155	---	---	11	---					
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr22:38120029_38120031delCCT	uc003atr.3	+	6	1737_1739	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del	TRIOBP_uc003atu.3_In_Frame_Del_p.S319del|TRIOBP_uc003atq.1_In_Frame_Del_p.S491del|TRIOBP_uc003ats.1_In_Frame_Del_p.S319del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	491					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													---	164	---	---	8	---					
