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
RLF	6018	broad.mit.edu	37	1	40703347	40703347	+	Silent	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:40703347A>G	ENST00000372771.4	+	8	3000	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	991					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAAGACGAAAGATCTGTTTC	0.408000													14	43					0	0	0.016723	0	0
KLK3	354	broad.mit.edu	37	19	51363277	51363277	+	Missense_Mutation	SNP	C	C	T	rs138882542	by1000genomes	TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:51363277C>T	ENST00000326003.2	+	5	721	c.680C>T	c.(679-681)aCg>aTg	p.T227M	KLK3_ENST00000595952.1_Missense_Mutation_p.T184M|KLK3_ENST00000360617.3_3'UTR	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	227	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAAGGTATCACGTCATGGGGC	0.547000													36	66					0	0	0.006230	0	0
ERMAP	114625	broad.mit.edu	37	1	43305715	43305715	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:43305715A>T	ENST00000328249.3	+	6	1417	c.379A>T	c.(379-381)Agt>Tgt	p.S127C	RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.S217C|ERMAP_ENST00000372517.2_Missense_Mutation_p.S217C|ERMAP_ENST00000487556.1_3'UTR			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	217	Ig-like V-type.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAACTCCGGAGTGAACTGAG	0.438000													45	129					0	0	0.014410	0	0
CDH9	1007	broad.mit.edu	37	5	26915954	26915954	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:26915954T>C	ENST00000231021.4	-	3	479	c.307A>G	c.(307-309)Ata>Gta	p.I103V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	103	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTCATCTATAACAAATAGA	0.378000													95	152					0	0	0.014410	0	0
EMC2	9694	broad.mit.edu	37	8	109462150	109462150	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:109462150A>G	ENST00000220853.3	+	2	174	c.139A>G	c.(139-141)Aag>Gag	p.K47E		NM_014673.3	NP_055488.1			ER membrane protein complex subunit 2																		ATATGCTTCTAAGCTGGGAGA	0.318000													26	171					0	0	0.005443	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117450836	117450836	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:117450836C>T	ENST00000160373.3	-	3	488	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	133										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTCTGCTCTCAGCAGCAGCC	0.483000													39	266					0	0	0.010771	0	0
DMRT2	10655	broad.mit.edu	37	9	1057243	1057243	+	Silent	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:1057243T>C	ENST00000382251.3	+	5	1985	c.1656T>C	c.(1654-1656)ccT>ccC	p.P552P	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Silent_p.P552P|DMRT2_ENST00000358146.2_Silent_p.P552P			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	552					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTAAGAGGCCTTCATCTGCCA	0.393000													20	54					0	0	0.012319	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													3	67					0	0	0.004672	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966610	41966610	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:41966610G>A	ENST00000298919.7	+	10	1637	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E419K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E677K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	677	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGAAACATTGAGCTTGAGTG	0.453000													13	80					0	0	0.020292	0	0
CDH6	1004	broad.mit.edu	37	5	31302316	31302316	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:31302316G>C	ENST00000265071.2	+	6	1175	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	CDH6_ENST00000514738.1_Missense_Mutation_p.E249Q	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	304	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCTGAAATTGAGTACAGCAT	0.473000													11	105					0	0	0.010729	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70758091	70758091	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:70758091T>G	ENST00000370944.4	-	9	1508	c.1195A>C	c.(1195-1197)Ata>Cta	p.I399L	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.I364L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	399					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TGTTCCATTATGTTTCCACCT	0.338000													15	57					0	0	0.006122	0	0
DOCK2	1794	broad.mit.edu	37	5	169506012	169506012	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:169506012G>A	ENST00000256935.8	+	49	5108	c.5028G>A	c.(5026-5028)ccG>ccA	p.P1676P	DOCK2_ENST00000520908.1_Silent_p.P1168P|DOCK2_ENST00000540750.1_Silent_p.P737P|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1676					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAAGACGCCGAGAGTGGAGC	0.547000													16	141					0	0	0.004990	0	0
NCK1	4690	broad.mit.edu	37	3	136665013	136665013	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:136665013C>T	ENST00000469404.1	+	2	714	c.623C>T	c.(622-624)tCa>tTa	p.S208L	NCK1_ENST00000288986.2_Missense_Mutation_p.S272L|NCK1_ENST00000481752.1_Missense_Mutation_p.S272L	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	272	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						ATTAGGCCTTCACTCACTGGA	0.413000													28	161					0	0	0.005443	0	0
OR2C3	81472	broad.mit.edu	37	1	247695697	247695697	+	Silent	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:247695697C>G	ENST00000366487.3	-	2	478	c.117G>C	c.(115-117)tcG>tcC	p.S39S	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCCCAAGATCGATACCATGT	0.473000													25	109					0	0	0.021523	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532561	190532561	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:190532561G>A	ENST00000260952.4	+	5	1949	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	ASNSD1_ENST00000607062.1_Silent_p.S31S	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	512	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GCTTTCAGTCGCATGGGCTGG	0.413000													4	142					0	0	0.014758	0	0
SPTB	6710	broad.mit.edu	37	14	65239589	65239589	+	Silent	SNP	G	G	A	rs142168941		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:65239589G>A	ENST00000389722.3	-	25	5315	c.5262C>T	c.(5260-5262)atC>atT	p.I1754I	SPTB_ENST00000389721.5_Silent_p.I1754I|SPTB_ENST00000556626.1_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I|SPTB_ENST00000389720.3_Silent_p.I1754I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1754					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.I1754I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGTCGCTCGATGAAGGCAT	0.637000													12	21					0	0	0.013537	0	0
BCAN	63827	broad.mit.edu	37	1	156618415	156618415	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:156618415G>A	ENST00000329117.4	+	6	1161	c.825G>A	c.(823-825)gcG>gcA	p.A275A	BCAN_ENST00000361588.5_Silent_p.A275A|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	275	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACGGGCGTACTGCCAGG	0.612000													24	126					0	0	0.016522	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374105	95374105	+	RNA	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:95374105G>A	ENST00000494840.1	-	0	1756					NR_077228.1																						AATTCGTGCAGCGGATGTTAC	0.388000													12	31					0	0	0.013537	0	0
CCDC88A	55704	broad.mit.edu	37	2	55573405	55573405	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:55573405C>T	ENST00000436346.1	-	10	1788	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	CCDC88A_ENST00000413716.2_Missense_Mutation_p.R316Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R316Q|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R316Q	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	316					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGCTTTCTCTCGAAGTGCATC	0.333000													30	93					0	0	0.012213	0	0
PC	5091	broad.mit.edu	37	11	66617874	66617874	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:66617874G>A	ENST00000393960.1	-	19	2816	c.2535C>T	c.(2533-2535)taC>taT	p.Y845Y	PC_ENST00000393958.2_Silent_p.Y845Y|PC_ENST00000393955.2_Silent_p.Y845Y	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	845					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGAAGGCCGCGTACAGTCCCC	0.597000													9	87					0	0	0.006214	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213115	96213115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:96213115G>T	ENST00000324765.8	+	16	2250	c.1903G>T	c.(1903-1905)Gaa>Taa	p.E635*	DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.E631*|DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.E635*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	635	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTATAAACCTGAAGTGTCCAT	0.398000													20	112					1.96292e-10	2.27699e-10	0.010504	1	0
RUNX1T1	862	broad.mit.edu	37	8	93017495	93017495	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:93017495G>C	ENST00000523629.1	-	6	1043	c.589C>G	c.(589-591)Ctc>Gtc	p.L197V	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.L160V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L160V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L208V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L170V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L197V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L170V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L160V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L160V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	197	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCGCAGTGGAGGAGCTCACGC	0.557000													6	71					0	0	0.001168	0	0
UBFD1	56061	broad.mit.edu	37	16	23570829	23570829	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:23570829C>T	ENST00000395878.3	+	3	777	c.396C>T	c.(394-396)ctC>ctT	p.L132L	UBFD1_ENST00000219638.4_Silent_p.L356L|UBFD1_ENST00000567264.1_Silent_p.L132L|UBFD1_ENST00000567212.1_Silent_p.L123L|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	132	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		ATAAGGGACTCGTCCCCGAGG	0.458000													8	40					0	0	0.004482	0	0
RC3H2	54542	broad.mit.edu	37	9	125621230	125621230	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:125621230C>T	ENST00000373670.1	-	11	2601	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	RC3H2_ENST00000423239.2_Missense_Mutation_p.M667I|RC3H2_ENST00000357244.2_Missense_Mutation_p.M667I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	667	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAGAAGAATTCATTCGATCTC	0.522000													5	213					0	0	0.014758	0	0
CASQ2	845	broad.mit.edu	37	1	116280931	116280931	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:116280931A>C	ENST00000261448.5	-	4	685	c.446T>G	c.(445-447)aTc>aGc	p.I149S	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	149					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTGCTGCTGATGATCTCCAC	0.443000													47	121					0	0	0.014410	0	0
MERTK	10461	broad.mit.edu	37	2	112732906	112732906	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:112732906T>C	ENST00000295408.4	+	7	1258	c.1001T>C	c.(1000-1002)aTt>aCt	p.I334T	MERTK_ENST00000421804.2_Missense_Mutation_p.I334T|MERTK_ENST00000409780.1_Missense_Mutation_p.I158T			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	334	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TCAGTCATGATTTTTAACACC	0.473000													54	166					0	0	0.014410	0	0
FASTKD3	79072	broad.mit.edu	37	5	7859654	7859654	+	Splice_Site	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:7859654T>C	ENST00000264669.5	-	7	2021		c.e7-2		FASTKD3_ENST00000513658.1_Splice_Site|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3						apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATAGGGGATCTGTAAAGGTAG	0.388000													20	55					0	0	0.007413	0	0
KMT2D	8085	broad.mit.edu	37	12	49434544	49434544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:49434544G>A	ENST00000301067.7	-	31	7008	c.7009C>T	c.(7009-7011)Cag>Tag	p.Q2337*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCTCTACCTGAGATGCCCGA	0.627000													17	38					0	0	0.004990	0	0
CFH	3075	broad.mit.edu	37	1	196658702	196658702	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:196658702C>T	ENST00000367429.4	+	8	1357	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	CFH_ENST00000359637.2_Missense_Mutation_p.H309Y|CFH_ENST00000439155.2_Missense_Mutation_p.H373Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	373	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGATCACATTCATTGCACACA	0.393000													9	130					0	0	0.013537	0	0
PACRGL	133015	broad.mit.edu	37	4	20706289	20706289	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:20706289A>G	ENST00000360916.5	+	3	450	c.59A>G	c.(58-60)tAt>tGt	p.Y20C	PACRGL_ENST00000503585.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000295290.8_Missense_Mutation_p.Y20C|PACRGL_ENST00000538990.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000444671.2_Missense_Mutation_p.Y20C|PACRGL_ENST00000513459.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000502374.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000507634.1_Missense_Mutation_p.Y20C|PACRGL_ENST00000502938.1_Missense_Mutation_p.Y20C	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	20							binding			endometrium(2)|lung(7)|prostate(1)	10						CCAGGTAACTATGATCAAAGG	0.403000													12	40					0	0	0.013537	0	0
PLGLA	285189	broad.mit.edu	37	2	107002803	107002803	+	RNA	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:107002803G>T	ENST00000484422.1	+	0	35																											TCACTAAGAAGCAGCTGGGGG	0.488000													44	298					1.00776e-21	1.24893e-21	0.014410	1	0
NDST4	64579	broad.mit.edu	37	4	115997541	115997541	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:115997541C>T	ENST00000264363.2	-	2	1330	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	218	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E218K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTCCAGTCTTCCCCAGGAAGA	0.408000													19	62					0	0	0.007413	0	0
MYT1	4661	broad.mit.edu	37	20	62871243	62871243	+	Missense_Mutation	SNP	G	G	T	rs139674530		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:62871243G>T	ENST00000536311.1	+	22	3669	c.3305G>T	c.(3304-3306)cGc>cTc	p.R1102L	MYT1_ENST00000328439.1_Missense_Mutation_p.R1075L			Q01538	MYT1_HUMAN	myelin transcription factor 1	1075				D -> A (in Ref. 5; AAA59897).	cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCAATATCCGCCTTCCGCAC	0.622000													37	114					7.04047e-22	8.80059e-22	0.005524	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261862	39261862	+	Silent	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:39261862T>C	ENST00000391415.1	+	1	279	c.222T>C	c.(220-222)tgT>tgC	p.C74C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	74	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].		Missing (in allele KAP.9-v1).			keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						AGACCACCTGTTGCAGGACCA	0.652000													6	37					0	0	0.001984	0	0
CMYA5	202333	broad.mit.edu	37	5	79032587	79032587	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:79032587C>G	ENST00000446378.2	+	2	8030	c.7999C>G	c.(7999-8001)Cca>Gca	p.P2667A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2667						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGAGATATGCCAGATCACAG	0.403000													10	46					0	0	0.008291	0	0
OGFRL1	79627	broad.mit.edu	37	6	72003291	72003291	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:72003291A>G	ENST00000370435.4	+	3	511	c.377A>G	c.(376-378)aAt>aGt	p.N126S	RP11-154D6.1_ENST00000586232.1_RNA|OGFRL1_ENST00000467503.1_3'UTR|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	126						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTTTATAAGAATAAAATTCCA	0.299000													8	40					0	0	0.006214	0	0
MIR512-1	574458	broad.mit.edu	37	19	54170012	54170012	+	RNA	SNP	T	T	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:54170012T>A	ENST00000384913.1	+	0	86					NR_030180.1|NR_030181.1																						GTCCAATGACTGAGGCGAGCA	0.577000													22	32					0	0	0.005443	0	0
ABCD4	5826	broad.mit.edu	37	14	74766262	74766262	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:74766262G>C	ENST00000356924.4	-	3	417	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	ABCD4_ENST00000298816.7_Missense_Mutation_p.L5V|ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000557588.1_Missense_Mutation_p.L92V	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	92	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GTGGAGTTCAGAACAATGAGC	0.512000													20	72					0	0	0.010504	0	0
FBXO24	26261	broad.mit.edu	37	7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:100198322A>G	ENST00000241071.6	+	10	1865	c.1543A>G	c.(1543-1545)Atg>Gtg	p.M515V	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.M553V|FBXO24_ENST00000468962.1_Missense_Mutation_p.M503V|FBXO24_ENST00000360609.2_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	515						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662000													3	56					0	0	0.004672	0	0
PARP11	57097	broad.mit.edu	37	12	3935380	3935380	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:3935380G>A	ENST00000228820.4	-	4	432	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PARP11_ENST00000447133.3_Silent_p.L15L|PARP11_ENST00000427057.2_Silent_p.L15L|PARP11_ENST00000397096.2_Silent_p.L89L	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	89	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCAGTGGTGAGATTCATTT	0.358000													23	172					0	0	0.007291	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													3	55					0	0	0.004672	0	0
THSD4	79875	broad.mit.edu	37	15	72023537	72023537	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:72023537G>A	ENST00000355327.3	+	10	1745	c.1611G>A	c.(1609-1611)gtG>gtA	p.V537V	THSD4_ENST00000357769.4_Silent_p.V177V|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.V537V			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	537						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCCCCAGGTGCCACCCCACA	0.537000											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	47					0	0	0.006214	0	0
DNAH3	55567	broad.mit.edu	37	16	20998737	20998737	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:20998737C>T	ENST00000261383.3	-	47	6915	c.6916G>A	c.(6916-6918)Gag>Aag	p.E2306K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2306					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGATAAACCTCATGGATCCAA	0.428000													15	82					0	0	0.020292	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829576	146829576	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:146829576G>T	ENST00000361727.3	+	8	1839	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	441	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACAGACCAAGATGAGCCAAA	0.413000										HNSCC(39;0.1)			22	48					1.22574e-08	1.41057e-08	0.014323	1	0
ZNF687	57592	broad.mit.edu	37	1	151259824	151259824	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:151259824C>T	ENST00000368879.2	+	2	1155	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCCTCAGATCCTGATCCACC	0.562000													29	65					0	0	0.006320	0	0
TTF1	7270	broad.mit.edu	37	9	135276927	135276927	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:135276927T>C	ENST00000334270.2	-	2	1321	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	428					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTCCATCATGGCGCCATCA	0.507000													66	78					0	0	0.014410	0	0
OR5H1	26341	broad.mit.edu	37	3	97852161	97852161	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:97852161A>G	ENST00000354565.2	+	1	620	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GGTTCAATTCAGGTATTCAGC	0.318000													3	83					0	0	0.004672	0	0
LRP1B	53353	broad.mit.edu	37	2	141457953	141457953	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:141457953T>C	ENST00000389484.3	-	41	7636	c.6665A>G	c.(6664-6666)aAg>aGg	p.K2222R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2222					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATGACATTCTTGAAATAACG	0.318000										TSP Lung(27;0.18)			35	143					0	0	0.006999	0	0
MS4A12	54860	broad.mit.edu	37	11	60264874	60264874	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:60264874C>A	ENST00000016913.4	+	2	140	c.83C>A	c.(82-84)cCt>cAt	p.P28H	MS4A12_ENST00000537076.1_Missense_Mutation_p.P28H|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	28						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTATGGCTCCTGGATTTCAA	0.478000													27	83					2.48779e-11	2.98124e-11	0.005443	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728331	104728331	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:104728331C>A	ENST00000372582.1	+	6	1480	c.724C>A	c.(724-726)Cca>Aca	p.P242T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P242T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	242	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCTCCCAAGCCATTGTTCCC	0.398000													21	102					5.35356e-11	6.3111e-11	0.016522	1	0
STAG2	10735	broad.mit.edu	37	X	123200245	123200245	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:123200245C>A	ENST00000371160.1	+	23	2514	c.2224C>A	c.(2224-2226)Ctt>Att	p.L742I	STAG2_ENST00000371144.3_Missense_Mutation_p.L742I|STAG2_ENST00000354548.5_Missense_Mutation_p.L673I|STAG2_ENST00000371145.3_Missense_Mutation_p.L742I|STAG2_ENST00000371157.3_Missense_Mutation_p.L742I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.L742I			Q8N3U4	STAG2_HUMAN	stromal antigen 2	742					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTATGTAATCCTTTGGCAACT	0.328000													13	110					1.5739e-10	1.84044e-10	0.004007	1	0
PCDHB12	56124	broad.mit.edu	37	5	140588971	140588971	+	Silent	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140588971C>A	ENST00000239450.2	+	1	681	c.492C>A	c.(490-492)atC>atA	p.I164I	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		164	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTAGGAATCAATGCTGTAA	0.388000													11	64					0.000673444	0.000739768	0.008291	1	0
TREML2	79865	broad.mit.edu	37	6	41166046	41166046	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:41166046C>A	ENST00000483722.1	-	2	362	c.177G>T	c.(175-177)agG>agT	p.R59S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	59	Ig-like V-type.			R -> K (in Ref. 3; BAB14668).	T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTTCTTCTTCCTGATTTTGC	0.552000													47	148					6.31075e-24	7.95703e-24	0.014410	1	0
MMP8	4317	broad.mit.edu	37	11	102585393	102585393	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:102585393G>A	ENST00000236826.3	-	8	1182	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	362	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ATATCCTTGGGATAACCTTGC	0.383000													10	174					0	0	0.010729	0	0
ZNF423	23090	broad.mit.edu	37	16	49670697	49670697	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:49670697G>T	ENST00000561648.1	-	4	2419	c.2366C>A	c.(2365-2367)aCc>aAc	p.T789N	ZNF423_ENST00000567169.1_Missense_Mutation_p.T672N|ZNF423_ENST00000563137.2_Missense_Mutation_p.T729N|ZNF423_ENST00000562520.1_Missense_Mutation_p.T729N|ZNF423_ENST00000262383.2_Missense_Mutation_p.T789N|ZNF423_ENST00000562871.1_Missense_Mutation_p.T729N|ZNF423_ENST00000535559.1_Missense_Mutation_p.T672N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	789					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGCTGAAGGTCTCCCCACA	0.572000													9	84					0.00136819	0.00148051	0.013537	1	0
DPPA3	359787	broad.mit.edu	37	12	7864205	7864205	+	Silent	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:7864205G>T	ENST00000345088.2	+	1	156	c.39G>T	c.(37-39)ggG>ggT	p.G13G		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	13						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		ACATCCCAGGGTCTCCACAAA	0.483000													3	43					0.004672	0.00498118	0.004672	1	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													6	165					0	0	0.001168	0	0
MED23	9439	broad.mit.edu	37	6	131926435	131926435	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:131926435T>C	ENST00000403834.3	-	14	1749	c.1576A>G	c.(1576-1578)Att>Gtt	p.I526V	MED23_ENST00000545957.1_Missense_Mutation_p.I161V|MED23_ENST00000368068.3_Missense_Mutation_p.I520V|MED23_ENST00000540546.1_Missense_Mutation_p.I526V|MED23_ENST00000539158.1_Intron|MED23_ENST00000368060.3_Missense_Mutation_p.I520V|MED23_ENST00000368058.1_Missense_Mutation_p.I526V|MED23_ENST00000354577.4_Missense_Mutation_p.I526V|MED23_ENST00000368053.4_Missense_Mutation_p.I526V			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	520					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AAGGGGGTAATAGATCCTGAA	0.393000													10	47					0	0	0.008291	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847537	130847537	+	Splice_Site	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:130847537G>A	ENST00000245255.3	+	18	2315	c.2041_splice	c.e18-1	p.A681_splice		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	681	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTGTTTCAGCGGCTCTGAGGG	0.512000													26	62					0	0	0.004656	0	0
LTK	4058	broad.mit.edu	37	15	41797201	41797201	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:41797201C>T	ENST00000263800.6	-	16	2083	c.1987G>A	c.(1987-1989)Ggg>Agg	p.G663R	LTK_ENST00000561619.1_Missense_Mutation_p.G361R|LTK_ENST00000355166.5_Missense_Mutation_p.G602R|LTK_ENST00000453182.2_Missense_Mutation_p.G533R	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	663	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCAAAGTCCCCAATCTTGGCC	0.567000										TSP Lung(18;0.14)			11	32					0	0	0.010729	0	0
SBDS	51119	broad.mit.edu	37	7	66453484	66453484	+	Silent	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:66453484T>C	ENST00000246868.2	-	5	810	c.627A>G	c.(625-627)gtA>gtG	p.V209V		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	209					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						CAATCAGACATACCTGAAACA	0.408000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				12	47					0	0	0.010729	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728332	104728332	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:104728332C>A	ENST00000372582.1	+	6	1481	c.725C>A	c.(724-726)cCa>cAa	p.P242Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P242Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	242	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCTCCCAAGCCATTGTTCCCC	0.398000													21	101					5.35356e-11	6.3111e-11	0.016522	1	0
ZMYM6	9204	broad.mit.edu	37	1	35453123	35453123	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:35453123A>C	ENST00000357182.4	-	16	3787	c.3560T>G	c.(3559-3561)aTt>aGt	p.I1187S	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1187					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTGCTCAAAAATAATCCTTGT	0.383000													9	63					0	0	0.016723	0	0
DPY19L2	283417	broad.mit.edu	37	12	64041067	64041067	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:64041067C>T	ENST00000324472.4	-	5	850	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	223					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATTCTGGTGACATTCCAGCAG	0.318000													17	133					0	0	0.014323	0	0
GHR	2690	broad.mit.edu	37	5	42718796	42718796	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:42718796A>G	ENST00000230882.4	+	10	1377	c.1187A>G	c.(1186-1188)gAg>gGg	p.E396G	GHR_ENST00000357703.3_Missense_Mutation_p.E374G|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.E209G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	396					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GACATTCTGGAGACTGATTTC	0.478000													23	96					0	0	0.021523	0	0
MKNK2	2872	broad.mit.edu	37	19	2041985	2041985	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:2041985C>G	ENST00000250896.3	-	11	1043	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	MKNK2_ENST00000541165.1_Missense_Mutation_p.E136Q|MKNK2_ENST00000591601.1_Missense_Mutation_p.E267Q|MKNK2_ENST00000591142.1_Missense_Mutation_p.E11Q|MKNK2_ENST00000591588.1_Missense_Mutation_p.E11Q|MKNK2_ENST00000309340.7_Missense_Mutation_p.E267Q|MKNK2_ENST00000588014.1_Missense_Mutation_p.E11Q	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	267	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGCCTCCTCGCTGAAGGCC	0.667000													3	8					0	0	0.009096	0	0
GLUD2	2747	broad.mit.edu	37	X	120182678	120182678	+	Silent	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:120182678C>A	ENST00000328078.1	+	1	1217	c.1140C>A	c.(1138-1140)atC>atA	p.I380I		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	380					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACATACTGATCCCAGCTGCCA	0.507000													64	220					7.05995e-25	8.97976e-25	0.014410	1	0
RUNX1T1	862	broad.mit.edu	37	8	93017496	93017496	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:93017496G>A	ENST00000523629.1	-	6	1042	c.588C>T	c.(586-588)ctC>ctT	p.L196L	RUNX1T1_ENST00000521553.1_Silent_p.L159L|RUNX1T1_ENST00000422361.2_Silent_p.L159L|RUNX1T1_ENST00000436581.2_Silent_p.L207L|RUNX1T1_ENST00000396218.1_Silent_p.L169L|RUNX1T1_ENST00000265814.3_Silent_p.L196L|RUNX1T1_ENST00000518844.1_Silent_p.L169L|RUNX1T1_ENST00000360348.2_Silent_p.L159L|RUNX1T1_ENST00000520724.1_Silent_p.L159L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	196	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L159L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CGCAGTGGAGGAGCTCACGCT	0.552000													6	69					0	0	0.001168	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203865	84203865	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:84203865G>A	ENST00000334315.5	+	9	1424	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000378553.5_Silent_p.P477P			Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	0	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TACTGTCACCGCCTGTGAAGG	0.637000													4	96					0	0	0.001984	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	34					0	0	0.009096	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623566	37623566	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr21:37623566G>A	ENST00000399151.3	+	22	5190	c.5105G>A	c.(5104-5106)cGt>cAt	p.R1702H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1702					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCCCAGCGTCACAGTAAG	0.423000													13	77					0	0	0.020292	0	0
HADHA	3030	broad.mit.edu	37	2	26415267	26415267	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:26415267T>C	ENST00000380649.3	-	18	2041	c.1912A>G	c.(1912-1914)Atc>Gtc	p.I638V		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	638					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCCTGATAGATGTAAAAGCCC	0.428000													15	49					0	0	0.004007	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229664	74229664	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:74229664T>C	ENST00000316292.9	-	1	1077	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	EEF1A1_ENST00000331523.2_Missense_Mutation_p.Y29C|EEF1A1_ENST00000309268.6_Missense_Mutation_p.Y29C	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	29						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCGCATTTATAGATCAGATG	0.418000													15	81					0	0	0.004990	0	0
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642000													3	78					0	0	0.004672	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203819	84203819	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:84203819A>G	ENST00000378553.5	+	8	1509	c.1385A>G	c.(1384-1386)cAa>cGa	p.Q462R	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Intron	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	462	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GATGGAGATCAAGAGCCAGAG	0.612000													11	123					0	0	0.013537	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54662572	54662572	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:54662572A>G	ENST00000230640.5	+	16	1933	c.1679A>G	c.(1678-1680)aAt>aGt	p.N560S	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.N459S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	560	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATCCTCTAAATAGTGCTTTC	0.338000													31	63					0	0	0.012213	0	0
XRN2	22803	broad.mit.edu	37	20	21314185	21314185	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:21314185G>A	ENST00000377191.3	+	10	957	c.862G>A	c.(862-864)Gat>Aat	p.D288N	XRN2_ENST00000539513.1_Missense_Mutation_p.D234N|XRN2_ENST00000430571.2_Missense_Mutation_p.D212N	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	288					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CTTGCAGCATGATGAACTTGC	0.388000													17	129					0	0	0.006122	0	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	rs121912655		TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:7577556C>T	ENST00000420246.2	-	7	857	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_ENST00000413465.2_Missense_Mutation_p.C242Y|TP53_ENST00000455263.2_Missense_Mutation_p.C242Y|TP53_ENST00000445888.2_Missense_Mutation_p.C242Y|TP53_ENST00000269305.4_Missense_Mutation_p.C242Y|TP53_ENST00000359597.4_Missense_Mutation_p.C242Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			36	62					0	0	0.021022	0	0
COL1A2	1278	broad.mit.edu	37	7	94037520	94037520	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:94037520G>T	ENST00000297268.6	+	14	1136	c.665G>T	c.(664-666)aGa>aTa	p.R222I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	222					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGTGAGAGAGGACGTGTT	0.408000										HNSCC(75;0.22)			6	76					8.12818e-05	9.13633e-05	0.001984	1	0
PRRC2A	7916	broad.mit.edu	37	6	31605291	31605291	+	Silent	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:31605291A>G	ENST00000376033.2	+	31	6636	c.6402A>G	c.(6400-6402)gaA>gaG	p.E2134E	PRRC2A_ENST00000376007.4_Silent_p.E2134E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2134						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACCTCGAGAAGGGCCCTCCC	0.677000													28	100					0	0	0.006320	0	0
HPR	3250	broad.mit.edu	37	16	72110554	72110554	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:72110554C>T	ENST00000540303.2	+	5	653	c.621C>T	c.(619-621)atC>atT	p.I207I	HPR_ENST00000356967.5_Silent_p.I207I|HPR_ENST00000228226.8_Silent_p.I244I|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	207	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.I207M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TGATGCCCATCTGCCTACCTT	0.448000													19	141					0	0	0.006122	0	0
SCO1	6341	broad.mit.edu	37	17	10584496	10584496	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:10584496C>T	ENST00000255390.5	-	6	906	c.846G>A	c.(844-846)agG>agA	p.R282R	SCO1_ENST00000577427.1_Silent_p.R251R|CTC-297N7.10_ENST00000584139.1_RNA	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	282					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TTTCTCCCTTCCTCTTGTTCT	0.438000													46	74					0	0	0.010771	0	0
PDE9A	5152	broad.mit.edu	37	21	44153465	44153465	+	Splice_Site	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr21:44153465G>A	ENST00000291539.6	+	7	557		c.e7-1		PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000539837.1_Splice_Site|PDE9A_ENST00000398229.3_Splice_Site|PDE9A_ENST00000349112.3_Splice_Site|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000380328.2_Splice_Site|PDE9A_ENST00000398227.3_Splice_Site|PDE9A_ENST00000335440.6_Splice_Site|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TTCATTCCTAGAGCATTCAAA	0.418000													13	36					0	0	0.013537	0	0
HCFC1	3054	broad.mit.edu	37	X	153223611	153223611	+	Silent	SNP	A	A	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:153223611A>T	ENST00000310441.7	-	11	2859	c.1893T>A	c.(1891-1893)ccT>ccA	p.P631P	HCFC1_ENST00000369984.4_Silent_p.P631P|HCFC1_ENST00000354233.3_Silent_p.P562P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	631	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGATGATAGGGCGGGTAG	0.622000													18	67					0	0	0.012319	0	0
FGD1	2245	broad.mit.edu	37	X	54496604	54496604	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:54496604C>A	ENST00000375135.3	-	4	1679	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	316	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTAGCCAGGGCAGGGGGCCCA	0.657000													11	19					4.68919e-08	5.3538e-08	0.008291	1	0
LMTK3	114783	broad.mit.edu	37	19	48989041	48989041	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:48989041C>A	ENST00000600059.1	-	15	4599	c.4372G>T	c.(4372-4374)Gtg>Ttg	p.V1458L	LMTK3_ENST00000270238.3_Missense_Mutation_p.V1487L					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAATTCTCCACGGGGCCTGAG	0.572000													7	15					0.00307968	0.0033078	0.003080	1	0
WASF3	10810	broad.mit.edu	37	13	27255411	27255411	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr13:27255411C>T	ENST00000361042.4	+	8	1153	c.928C>T	c.(928-930)Cca>Tca	p.P310S	WASF3_ENST00000335327.5_Missense_Mutation_p.P313S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	313	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCTCAGGCCCCAGAGGGGTC	0.652000													32	97					0	0	0.015359	0	0
PTPN23	25930	broad.mit.edu	37	3	47450918	47450918	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr3:47450918G>A	ENST00000265562.4	+	18	1886	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	PTPN23_ENST00000431726.1_Silent_p.E477E	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	603					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTTGTTCGAGGAGCAGCTGA	0.622000													3	39					0	0	0.004672	0	0
GTF3C1	2975	broad.mit.edu	37	16	27483198	27483198	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:27483198T>C	ENST00000356183.4	-	30	4412	c.4397A>G	c.(4396-4398)aAg>aGg	p.K1466R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K1466R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1466						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATGAAGGCCTTCACAAGAAC	0.627000													18	62					0	0	0.006122	0	0
JAG1	182	broad.mit.edu	37	20	10653370	10653370	+	Silent	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:10653370C>G	ENST00000254958.5	-	2	881	c.366G>C	c.(364-366)ctG>ctC	p.L122L		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	122					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AACTGAAAGGCAGCACGATGC	0.677000									Alagille Syndrome				9	30					0	0	0.006214	0	0
TLE6	79816	broad.mit.edu	37	19	2987759	2987759	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:2987759G>A	ENST00000246112.4	+	9	797	c.596G>A	c.(595-597)gGa>gAa	p.G199E	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.G76E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	76					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGACCCAGGAACAGACCCA	0.607000													7	91					0	0	0.004482	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493000													4	56					0	0	0.014758	0	0
SUN5	140732	broad.mit.edu	37	20	31587923	31587923	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:31587923C>G	ENST00000356173.3	-	5	389	c.297G>C	c.(295-297)caG>caC	p.Q99H	SUN5_ENST00000375519.2_Missense_Mutation_p.R77T|SUN5_ENST00000375523.3_Missense_Mutation_p.Q74H	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	99					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CCATGAGCTTCTGGCACAGCA	0.602000													8	47					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310192	25310192	+	RNA	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:25310192C>A	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							ATGAGTCCTCCAAAAAAAACA	0.478000													7	146					8.12818e-05	9.13633e-05	0.001984	1	0
TRAPPC11	60684	broad.mit.edu	37	4	184596347	184596347	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:184596347G>A	ENST00000334690.6	+	7	893	c.691G>A	c.(691-693)Gct>Act	p.A231T	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.A231T|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	231																	GTTCAAAATAGCTTTCTTCAG	0.239000													5	40					0	0	0.001168	0	0
MYO7B	4648	broad.mit.edu	37	2	128390861	128390861	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr2:128390861C>A	ENST00000389524.4	+	39	5412	c.5359C>A	c.(5359-5361)Cag>Aag	p.Q1787K	MYO7B_ENST00000409090.1_Missense_Mutation_p.Q639K|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1786K|MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1786K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1786	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCCCCGCACCAGGTGGAGGT	0.667000													4	24					0.000602214	0.000666573	0.014758	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54936370	54936370	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:54936370G>A	ENST00000293373.6	+	31	3364	c.3285G>A	c.(3283-3285)gaG>gaA	p.E1095E	NCKAP1L_ENST00000545638.2_Silent_p.E1045E	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1095					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGTGGAGGAGTCATCCTTCC	0.527000													18	136					0	0	0.010504	0	0
ADAM15	8751	broad.mit.edu	37	1	155034393	155034393	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:155034393A>G	ENST00000356955.2	+	21	2467	c.2366A>G	c.(2365-2367)gAc>gGc	p.D789G	ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.D788G|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.D764G	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	789					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGCTGGCTGACCGACCCAAT	0.642000											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	145					0	0	0.020292	0	0
BMX	660	broad.mit.edu	37	X	15567988	15567988	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:15567988C>A	ENST00000357607.2	+	18	2009	c.1821C>A	c.(1819-1821)agC>agA	p.S607R	BMX_ENST00000342014.6_Missense_Mutation_p.S607R|BMX_ENST00000348343.6_Missense_Mutation_p.S607R			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	607	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGGTGTTCAGCCTGGGGAAGC	0.552000													4	197					0.00116845	0.00127387	0.001168	1	0
MTBP	27085	broad.mit.edu	37	8	121468867	121468867	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr8:121468867C>T	ENST00000305949.1	+	7	749	c.704C>T	c.(703-705)tCa>tTa	p.S235L		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	235					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTTATTGACTCAAAGGAATTA	0.313000													24	282					0	0	0.021523	0	0
RC3H2	54542	broad.mit.edu	37	9	125618124	125618124	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr9:125618124C>T	ENST00000373670.1	-	13	3088	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	RC3H2_ENST00000423239.2_Missense_Mutation_p.E830K|RC3H2_ENST00000357244.2_Missense_Mutation_p.E830K			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	830						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGATGATCTTCTTCAAATTTT	0.343000													9	59					0	0	0.004482	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203862	84203862	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:84203862A>G	ENST00000334315.5	+	9	1421	c.1240A>G	c.(1240-1242)Acc>Gcc	p.T414A	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000378553.5_Silent_p.S476S			Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	0	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TGCTACTGTCACCGCCTGTGA	0.642000													4	97					0	0	0.001984	0	0
PTPRT	11122	broad.mit.edu	37	20	41101056	41101056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr20:41101056G>A	ENST00000373198.3	-	8	1535	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q434*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q434*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	434	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCTCGTACTGCTGCTGGTTG	0.627000													50	59					0	0	0.014410	0	0
LRIG3	121227	broad.mit.edu	37	12	59266402	59266402	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr12:59266402T>G	ENST00000320743.3	-	19	3598	c.3312A>C	c.(3310-3312)ttA>ttC	p.L1104F	LRIG3_ENST00000379141.4_Missense_Mutation_p.L1044F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1104						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTAGTTTTCTAAAGTCTGTT	0.383000			T	ROS1	NSCLC								16	98					0	0	0.003163	0	0
URB2	9816	broad.mit.edu	37	1	229773396	229773396	+	Silent	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:229773396C>A	ENST00000258243.2	+	4	3172	c.3036C>A	c.(3034-3036)ctC>ctA	p.L1012L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1012						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCAGATGCTCATCCAAATGA	0.448000													26	49					1.64293e-13	2.00189e-13	0.018920	1	0
CHAF1A	10036	broad.mit.edu	37	19	4418037	4418037	+	Silent	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:4418037A>G	ENST00000301280.5	+	4	1082	c.981A>G	c.(979-981)aaA>aaG	p.K327K		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	327	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AATTCGTCAAAGGCTCTACAG	0.353000								Chromatin Structure					7	97					0	0	0.004482	0	0
ZNF493	284443	broad.mit.edu	37	19	21606460	21606460	+	Silent	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:21606460C>T	ENST00000392288.2	+	4	1108	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.F205F	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTAGTATTTTCTCAACCCCTA	0.348000													4	90					0	0	0.009096	0	0
TBC1D9	23158	broad.mit.edu	37	4	141591978	141591978	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:141591978T>C	ENST00000442267.2	-	7	1236	c.1162A>G	c.(1162-1164)Aga>Gga	p.R388G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	388						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGAAAGTCTCTATCTTTCAAG	0.443000													49	117					0	0	0.014410	0	0
OR5I1	10798	broad.mit.edu	37	11	55703033	55703033	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:55703033T>C	ENST00000301532.3	-	1	843	c.844A>G	c.(844-846)Att>Gtt	p.I282V		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAATGAAAATGGTGTAGAAC	0.383000													12	26					0	0	0.013537	0	0
SMG1	23049	broad.mit.edu	37	16	18881315	18881315	+	Splice_Site	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr16:18881315T>C	ENST00000446231.2	-	19	2906	c.2492_splice	c.e19-1	p.N832_splice	SMG1_ENST00000389467.3_Splice_Site_p.N832_splice			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	832	Interaction with SMG8 and SMG9.		N -> D.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGATTGTTATTGCTGTAGACA	0.318000													5	9					0	0	0.014758	0	0
THSD4	79875	broad.mit.edu	37	15	72023538	72023538	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:72023538C>T	ENST00000355327.3	+	10	1746	c.1612C>T	c.(1612-1614)Cca>Tca	p.P538S	THSD4_ENST00000357769.4_Missense_Mutation_p.P178S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.P538S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	538						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCCAGGTGCCACCCCACAG	0.542000											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	46					0	0	0.008291	0	0
NF2	4771	broad.mit.edu	37	22	30057252	30057252	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr22:30057252A>G	ENST00000338641.4	+	8	1175	c.734A>G	c.(733-735)gAc>gGc	p.D245G	NF2_ENST00000347330.5_Missense_Mutation_p.D86G|NF2_ENST00000361166.4_Missense_Mutation_p.D245G|NF2_ENST00000361452.4_Missense_Mutation_p.D204G|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.D245G|NF2_ENST00000334961.7_Missense_Mutation_p.D162G|NF2_ENST00000403999.3_Missense_Mutation_p.D245G|NF2_ENST00000353887.4_Missense_Mutation_p.D162G|NF2_ENST00000361676.4_Missense_Mutation_p.D203G|NF2_ENST00000403435.1_Missense_Mutation_p.D245G	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	245	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CACATTTATGACCCTGAGAAC	0.498000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				3	157					0	0	0.009096	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755399	140755399	+	Silent	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140755399G>A	ENST00000517434.1	+	1	1749	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCGCAGAGCCCGGCTACC	0.657000													53	143					0	0	0.014410	0	0
GNRHR	2798	broad.mit.edu	37	4	68606303	68606303	+	Silent	SNP	A	A	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr4:68606303A>T	ENST00000226413.4	-	3	906	c.882T>A	c.(880-882)ccT>ccA	p.P294P	GNRHR_ENST00000420975.2_3'UTR|RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	294					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)	TTAACATTTCAGGATCAAACC	0.393000													4	259					0	0	0.014758	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310190	25310190	+	RNA	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:25310190T>C	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							TGATGAGTCCTCCAAAAAAAA	0.483000													7	144					0	0	0.001984	0	0
PKM	5315	broad.mit.edu	37	15	72511446	72511446	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr15:72511446G>T	ENST00000449901.2	-	3	197	c.40C>A	c.(40-42)Cag>Aag	p.Q14K	PKM_ENST00000565154.1_5'UTR|PKM_ENST00000389093.3_5'UTR|PKM_ENST00000335181.5_5'UTR|PKM_ENST00000319622.6_5'UTR|PKM_ENST00000568883.1_5'UTR|PKM_ENST00000568459.1_5'UTR|PKM_ENST00000565184.1_5'UTR	NM_001206798.1	NP_001193727.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CATGGCTGCTGAGGTCCTGGG	0.512000													20	88					7.45023e-12	9.00236e-12	0.010504	1	0
AKR1B10	57016	broad.mit.edu	37	7	134221441	134221441	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:134221441C>A	ENST00000359579.4	+	5	789	c.469C>A	c.(469-471)Ctt>Att	p.L157I	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	157					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGTGAAAGCCCTTGGGGTCTC	0.488000													36	148					5.71845e-15	7.02691e-15	0.005524	1	0
NRXN3	9369	broad.mit.edu	37	14	79181301	79181301	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr14:79181301G>C	ENST00000554719.1	+	5	1235	c.744G>C	c.(742-744)aaG>aaC	p.K248N	NRXN3_ENST00000335750.5_Missense_Mutation_p.K248N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGCGCAGCAAGAACATTCGAC	0.557000													11	36					0	0	0.008291	0	0
CHST8	64377	broad.mit.edu	37	19	34263477	34263477	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:34263477G>A	ENST00000262622.3	+	4	1542	c.784G>A	c.(784-786)Gag>Aag	p.E262K	CHST8_ENST00000438847.2_Missense_Mutation_p.E262K|CHST8_ENST00000434302.1_Missense_Mutation_p.E262K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	262					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGCCCTTCGAGAGGCTGGT	0.617000													7	95					0	0	0.004482	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202875	140202875	+	Silent	SNP	T	T	C			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:140202875T>C	ENST00000529859.1	+	1	1515	c.1515T>C	c.(1513-1515)agT>agC	p.S505S	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.S505S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S505S|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGTCGAGTTACGTTTCGG	0.682000													25	86					0	0	0.021523	0	0
BRCA2	675	broad.mit.edu	37	13	32936727	32936727	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr13:32936727A>T	ENST00000544455.1	+	17	8100	c.7873A>T	c.(7873-7875)Aga>Tga	p.R2625*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.R2625*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2625					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAATCACTATAGATGGATCAT	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	72					0	0	0.004656	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609524	47609535	+	In_Frame_Del	DEL	CTACAGCCTGAC	CTACAGCCTGAC	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:47609524_47609535delCTACAGCCTGAC	ENST00000371891.3	+	6	757_768	c.726_737delCTACAGCCTGAC	c.(724-738)atc>at	p.IYSLT242del	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_In_Frame_Del_p.IYSLT242del|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	242						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGACACCATCTACAGCCTGACCTCTGCTGGC	0.542													7	145	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120502074	120502074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr1:120502074delT	ENST00000256646.2	-	12	2186	c.1967delA	c.(1966-1968)ctfs	p.H656fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	656	EGF-like 17; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGATTCCATGGATACAAGG	0.428			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				15	74	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133477960	133477961	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr5:133477960_133477961insGG	ENST00000395029.1	+	6	915_916	c.720_721insGG	c.(718-723)tcggaafs	p.E241fs	TCF7_ENST00000520958.1_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.E126fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.E241fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.E241fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.E241fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.E241fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	241					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCCCCCCTCAGGGAAGCAGGA	0.604													8	81	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31610753	31610754	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr6:31610753_31610754insA	ENST00000404765.2	-	15	2184_2185	c.1895_1896insT	c.(1894-1896)agcfs	p.S632fs	BAG6_ENST00000439687.2_Intron|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.S602fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.S596fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.S596fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.S596fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	602	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GAAGATCAGCCATGGAGGGTTG	0.653													12	18	---	---	---	---					
GNB2	2783	broad.mit.edu	37	7	100276221	100276224	+	Frame_Shift_Del	DEL	GAAG	GAAG	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:100276221_100276224delGAAG	ENST00000303210.4	+	9	1382_1385	c.900_903delGAAG	c.(898-903)atfs	p.MK300fs	GNB2_ENST00000436220.1_Frame_Shift_Del_p.MK256fs|GNB2_ENST00000427895.1_Frame_Shift_Del_p.MK200fs|GNB2_ENST00000393926.1_Frame_Shift_Del_p.MK300fs|GNB2_ENST00000419828.1_Frame_Shift_Del_p.MK200fs|GNB2_ENST00000393924.1_Frame_Shift_Del_p.MK300fs|GNB2_ENST00000424361.1_Frame_Shift_Del_p.MK256fs	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	300					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GGGATGCCATGAAGGGCGACCGTG	0.608													20	71	---	---	---	---					
PAXIP1	22976	broad.mit.edu	37	7	154738224	154738225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr7:154738224_154738225insT	ENST00000404141.1	-	19	3284_3285	c.3130_3131insA	c.(3130-3132)agafs	p.R1044fs	PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.R1044fs|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	1044	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		AAACGTACCTATGCCTCTGGCA	0.406													27	76	---	---	---	---					
OR56A1	120796	broad.mit.edu	37	11	6048343	6048344	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr11:6048343_6048344insA	ENST00000316650.5	-	1	627_628	c.591_592insT	c.(589-594)gaatttfs	p.EF197fs		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTGAAATTATCACAGGAGA	0.460													12	109	---	---	---	---					
MAP2K4	6416	broad.mit.edu	37	17	12016562	12016575	+	Frame_Shift_Del	DEL	CCAATATTCTTCTG	CCAATATTCTTCTG	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr17:12016562_12016575delCCAATATTCTTCTG	ENST00000415385.3	+	8	784_797	c.731_744delCCAATATTCTTCTG	c.(730-744)tfs	p.SNILL244fs	MAP2K4_ENST00000353533.5_Frame_Shift_Del_p.SNILL233fs			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	233	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.N234I(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATCAAACCTTCCAATATTCTTCTGGACAGAAGTG	0.388			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								15	56	---	---	---	---					
ZNF433	163059	broad.mit.edu	37	19	12126445	12126446	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chr19:12126445_12126446insA	ENST00000419886.2	-	5	1422_1423	c.1131_1132insT	c.(1129-1134)caaaagfs	p.Q377fs	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Frame_Shift_Ins_p.Q412fs			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TGAGTTCTTTCATGATATCGGA	0.431													44	92	---	---	---	---					
ATP11C	286410	broad.mit.edu	37	X	138820082	138820084	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BA-6870-01A-11D-1870-08	TCGA-BA-6870-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdd3f42-cb2f-4faf-8a47-b8bfee058265	7a53ffac-dad3-4e36-b077-c29fc66c6a42	g.chrX:138820082_138820084delCTT	ENST00000370557.1	-	28	4297_4299	c.3270_3272delAAG	c.(3268-3273)agt>ag	p.RS1090del	ATP11C_ENST00000359686.2_In_Frame_Del_p.RS1096del|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_In_Frame_Del_p.RS1096del|ATP11C_ENST00000370543.1_In_Frame_Del_p.RS1096del|ATP11C_ENST00000327569.3_In_Frame_Del_p.RS1096del			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1096					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TACCCTGGCACTTCTTCTTCTTA	0.355													15	149	---	---	---	---					
