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
GRIK1	2897	broad.mit.edu	37	21	31045468	31045468	+	Silent	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:31045468T>C	uc002yno.1	-	3	1025	c.561A>G	c.(559-561)caA>caG	p.Q187Q	GRIK1_uc002ynn.3_Silent_p.Q187Q|GRIK1_uc011acs.2_Silent_p.Q187Q|GRIK1_uc011act.2_Silent_p.Q131Q|GRIK1_uc010glq.1_Silent_p.Q45Q|GRIK1_uc002ynr.3_Silent_p.Q187Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	187					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TGATGAGCTCTTGTAGACGAA	0.393000													11	26					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1650883	1650883	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650883T>C	uc001agv.1	-	3	322	c.239A>G	c.(238-240)gAt>gGt	p.D80G	CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.D46G|CDK11B_uc001agw.1_Missense_Mutation_p.D46G|CDK11B_uc001agy.1_Missense_Mutation_p.D80G|CDK11B_uc001agx.1_Missense_Mutation_p.D80G|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc009vkr.3_Missense_Mutation_p.D80G|CDK11B_uc009vks.3_Missense_Mutation_p.D80G|CDK11B_uc010nys.2_Missense_Mutation_p.D80G|CDK11B_uc010nyt.1_Missense_Mutation_p.D80G|CDK11B_uc010nyu.1_Non-coding_Transcript|CDK11B_uc009vkt.1_Missense_Mutation_p.D80G|CDK11B_uc009vku.1_Missense_Mutation_p.D80G|CDK11B_uc009vkv.1_Missense_Mutation_p.D80G|CDK11B_uc001aht.1_Missense_Mutation_p.D80G|CDK11B_uc001ahu.1_Missense_Mutation_p.D80G|CDK11B_uc001ahv.1_Missense_Mutation_p.D80G|CDK11B_uc001ahw.1_Missense_Mutation_p.D80G	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	80					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CAAAGAATCATCTTCTTCTCC	0.388000													35	186					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147204390	147204390	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:147204390G>A	uc010ioz.2	-	9	1055	c.801C>T	c.(799-801)gaC>gaT	p.D267D	SLC10A7_uc003ikr.2_Silent_p.D267D|SLC10A7_uc010ipa.2_Silent_p.D254D|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	267						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TAGCCACTGTGTCTGCTGGTG	0.338000													9	7					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													8	122					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590591	234590591	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:234590591G>A	uc002vut.3	+	0	8	c.8G>A	c.(7-9)cGt>cAt	p.R3H	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.R3H	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTGATGGCTCGTGCAGGGTGG	0.527000											OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	52	51					0	0	1	0	0
SNAR-C3	100170226	broad.mit.edu	37	19	48453559	48453559	+	RNA	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:48453559C>G	uc010xzb.1	+	0		c.7C>G								Homo sapiens small ILF3/NF90-associated RNA C3 (SNAR-C3), small nuclear RNA.																		ACACCCGGAGCCATTGTGGCT	0.647000													6	28					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44682317	44682317	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:44682317G>A	uc010zxl.1	+	19	2793	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	SLC12A5_uc002xrb.2_Missense_Mutation_p.R883H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	906					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.R883H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TATCATTTACGCATCACTGCG	0.547000													63	116					0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109526301	109526301	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:109526301C>G	uc001tnx.2	-	3	889	c.496G>C	c.(496-498)Gac>Cac	p.D166H	ALKBH2_uc001tny.2_Missense_Mutation_p.D166H|ALKBH2_uc010sxj.1_Missense_Mutation_p.D166H|ALKBH2_uc009zvd.2_Silent_p.V99V|ALKBH2_uc010sxk.1_Silent_p.V99V	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	166	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCGATGTGGTCACAGCCATCT	0.532000								Direct reversal of damage					13	105					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382951	56382951	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:56382951C>T	uc002ivx.4	-	27	6182	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Missense_Mutation_p.A3T|BZRAP1_uc010dcs.3_Missense_Mutation_p.A1711T|BZRAP1_uc010wnt.2_Missense_Mutation_p.A1762T	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1771	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAATGCAGCCACCATGGAG	0.602000													10	7					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553302	106553302	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:106553302A>C	uc003prd.2	+	4	1501	c.1267A>C	c.(1267-1269)Aat>Cat	p.N423H	PRDM1_uc003pre.3_Missense_Mutation_p.N289H	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	423					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H422N(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CATGAATTGTAATGGCCTGAG	0.602000			"""D, N, Mis, F, S"""		DLBCL								80	431					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:153247289G>C	uc003ims.3	-	9	1675	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_uc011cii.2_Missense_Mutation_p.R505G|FBXW7_uc003imt.3_Missense_Mutation_p.R505G|FBXW7_uc011cih.2_Missense_Mutation_p.R329G|FBXW7_uc003imq.3_Missense_Mutation_p.R425G|FBXW7_uc003imr.3_Missense_Mutation_p.R387G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	505			R -> L (in an ovarian cancer cell line).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R505C(110)|p.R505G(27)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R505L(6)|p.R505S(5)|p.R505H(4)|p.R387C(3)|p.V504I(2)|p.R387S(1)|p.?(1)|p.R505P(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								49	33					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152321302	152321302	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:152321302C>T	uc002txm.3	+	29	5429	c.5268C>T	c.(5266-5268)gaC>gaT	p.D1756D	RIF1_uc002txn.3_Silent_p.D1756D|RIF1_uc002txl.3_Silent_p.D1756D|RIF1_uc002txo.3_Silent_p.D1756D|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1756					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATAATGACGTAGAGATTA	0.393000													10	36					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180688077	180688077	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:180688077G>A	uc003fkq.3	+	14	1774	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	FXR1_uc003fkp.3_Missense_Mutation_p.D427N|FXR1_uc003fkr.3_Missense_Mutation_p.D512N|FXR1_uc011bqj.2_Missense_Mutation_p.D426N|FXR1_uc003fks.3_Missense_Mutation_p.D455N|FXR1_uc011bqk.2_Missense_Mutation_p.D463N|FXR1_uc011bql.2_Missense_Mutation_p.D499N	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	512					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACGAAGGACTGATGAAGATGC	0.423000													19	41					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	1961068	1961068	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:1961068C>G	uc003mtq.3	-	4	690	c.478G>C	c.(478-480)Ggg>Cgg	p.G160R	GMDS_uc021ykn.1_Missense_Mutation_p.G130R	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	160					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGCACTTTCCCATAAAGTTCA	0.502000													28	66					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7578290C>T	uc002gim.2	-	6	754	c.560_splice	c.e6-1	p.G187_splice	TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.3_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.2_Intron	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	187	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGGCCAGACCTAAGAGCAAT	0.552000		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)			30	4					0	0	1	0	0
SDF2	6388	broad.mit.edu	37	17	26976153	26976153	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:26976153C>T	uc002hbw.3	-	2	786	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SDF2_uc002hbx.3_Non-coding_Transcript	NM_006923	NP_008854	Q99470	SDF2_HUMAN	Homo sapiens stromal cell-derived factor 2 (SDF2), transcript variant 1, mRNA.	164	MIR 3.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	p.G163V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CCATATTGTTCTCCTGTGACA	0.507000													18	52					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7702525	7702525	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7702525C>T	uc002giu.1	+	54	8678	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2888	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2888I(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTGCACATCGTGCTCTGCC	0.592000													38	2					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39451347	39451347	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:39451347T>C	uc001uwv.3	+	20	8947	c.8638T>C	c.(8638-8640)Ttc>Ctc	p.F2880L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2880					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCCATGGGATTCGGGCAAGA	0.438000													80	94					0	0	1	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790814	75790814	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:75790814C>T	uc011bgi.2	-	2	454	c.131G>A	c.(130-132)aGg>aAg	p.R44K	ZNF717_uc003dpw.3_Non-coding_Transcript	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN	Homo sapiens zinc finger protein 717 (ZNF717), mRNA.	44					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GTACAGGGTCCTCTGAGCATC	0.522000													2	1					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635192	87635192	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:87635192G>A	uc004aoa.1	+	18	3134	c.2196G>A	c.(2194-2196)acG>acA	p.T732T	NTRK2_uc004anz.1_Silent_p.T748T	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	732	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AATTCACGACGGAAAGCGACG	0.552000										TSP Lung(25;0.17)			46	78					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847636	40847636	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:40847636G>A	uc002iay.3	+	18	3306	c.3090G>A	c.(3088-3090)cgG>cgA	p.R1030R	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1030					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCTGAGCCGGCCAGTGCCAG	0.622000													6	57					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:41962602G>T	uc004aca.4	-	2		c.907C>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373000													5	32					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:33658404C>T	uc003jia.1	-	6	1238	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E359K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	359	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCAGGGTCTCGCAGGGGCGA	0.498000										HNSCC(64;0.19)			19	124					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10969073	10969073	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:10969073A>T	uc002yip.1	-	7	541	c.173_splice	c.e7+1	p.S58_splice	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	58					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTTATAACTCACCTTTCACTG	0.428000													17	77					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41808612	41808612	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:41808612T>G	uc002oqb.4	+	11	2019	c.1730T>G	c.(1729-1731)gTt>gGt	p.V577G	HNRNPUL1_uc002opz.4_Missense_Mutation_p.V477G|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.V477G|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.V577G|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.V463G|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.V477G|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.V477G|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.V477G|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.V433G|HNRNPUL1_uc002oqf.4_Missense_Mutation_p.V101G	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	577	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGGATGAGGTTCTGTTCATT	0.547000													37	52					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:29625934C>T	uc010ztl.1	+	1	120	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													5	64					0	0	1	0	0
HYAL2	8692	broad.mit.edu	37	3	50355733	50355733	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:50355733C>T	uc003czx.3	-	2	3542	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	HYAL2_uc003czw.3_Missense_Mutation_p.D417N|HYAL2_uc003czv.3_Missense_Mutation_p.D417N	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	Homo sapiens hyaluronoglucosaminidase 2 (HYAL2), transcript variant 2, mRNA.	417	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TGGTCAATGTCGGCCCAACTG	0.612000													5	50					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9781123	9781123	+	Missense_Mutation	SNP	G	G	T	rs149733062		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:9781123G>T	uc003bse.3	+	2	1439	c.1040G>T	c.(1039-1041)cGc>cTc	p.R347L	BRPF1_uc003bsf.3_Missense_Mutation_p.R347L|BRPF1_uc003bsg.3_Missense_Mutation_p.R347L|BRPF1_uc011ati.2_Missense_Mutation_p.R347L	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	347					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GATGACGGGCGCTGGGCCCAT	0.607000													7	222					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982369	7982369	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:7982369A>C	uc010sgh.2	-	3	641	c.620T>G	c.(619-621)gTg>gGg	p.V207G	SLC2A14_uc001qtk.3_Missense_Mutation_p.V192G|SLC2A14_uc001qtl.3_Missense_Mutation_p.V169G|SLC2A14_uc001qtm.3_Missense_Mutation_p.V169G|SLC2A14_uc010sgg.2_Missense_Mutation_p.V83G|SLC2A14_uc001qtn.3_Missense_Mutation_p.V192G|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	192					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TACCTGGGCCACCAGAATTCC	0.443000													20	30					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32335879	32335879	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:32335879C>T	uc001utt.3	+	2	331	c.260C>T	c.(259-261)gCg>gTg	p.A87V	RXFP2_uc010aba.3_Missense_Mutation_p.A87V	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	87						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGTGGATGGGCGACCATATTT	0.383000													15	16					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242380727	242380727	+	Silent	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:242380727A>C	uc002wbi.2	+	12	1331	c.1167A>C	c.(1165-1167)tcA>tcC	p.S389S	FARP2_uc010zoq.2_Silent_p.S389S|FARP2_uc010zor.2_Silent_p.S389S|AK055601_uc002wbj.3_5'Flank	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	389					Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGAGCATCTCATTCCCCGAGG	0.478000													24	32					0	0	1	0	0
MYC	4609	broad.mit.edu	37	8	128753004	128753004	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:128753004T>C	uc003ysi.3	+	2	1690	c.1165T>C	c.(1165-1167)Ttt>Ctt	p.F389L		NM_002467	NP_002458	P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	374	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAAACGGAGCTTTTTTGCCCT	0.522000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""								120	132					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128268	42128268	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:42128268G>A	uc003baz.1	+	9	1141	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.R372R|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	372							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGTGGTGAGGAGCCTGCAGG	0.557000													11	1					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598842	62598842	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:62598842G>A	uc002yhl.1	-	2	210	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGCCTGGCCGGGCACTGTCT	0.637000													119	104					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35862430	35862430	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35862430G>T	uc002xgp.3	+	14	1989	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	RPN2_uc002xgq.3_Missense_Mutation_p.R530L	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	562					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGTGGATCCGGATTGGTGCC	0.448000													6	53					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124243797	124243797	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:124243797C>T	uc003yqc.2	-	3	610	c.558G>A	c.(556-558)gcG>gcA	p.A186A	C8orf76_uc003yqd.3_Silent_p.A154A	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	186							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGAGATGACGCAAGTGCTG	0.438000													18	128					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452620	6452620	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:6452620C>T	uc001mdg.2	-	9	1271	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	404					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AAGGCTCCGTCTACCTTCTCA	0.572000													47	10					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987459	154987459	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:154987459C>A	uc001fgj.4	+	4	710	c.425C>A	c.(424-426)aCa>aAa	p.T142K	ZBTB7B_uc009wpa.3_Missense_Mutation_p.T108K|ZBTB7B_uc001fgk.4_Missense_Mutation_p.T108K|ZBTB7B_uc010peq.2_Missense_Mutation_p.T142K|ZBTB7B_uc001fgl.4_Missense_Mutation_p.T108K	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	108					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTGCCTATACAGCCACACTG	0.632000													19	56					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129886450	129886450	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:129886450A>T	uc003igp.2	-	10	1307	c.801T>A	c.(799-801)caT>caA	p.H267Q	SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	267						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTCTCTTCCATGGGCAGACA	0.343000													13	26					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25251535	25251535	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:25251535G>T	uc003abg.2	+	7	846	c.689G>T	c.(688-690)aGt>aTt	p.S230I	SGSM1_uc010guu.1_Missense_Mutation_p.S230I|SGSM1_uc003abh.2_Missense_Mutation_p.S230I|SGSM1_uc003abj.2_Missense_Mutation_p.S230I|SGSM1_uc003abi.1_Missense_Mutation_p.S205I|SGSM1_uc003abf.2_Missense_Mutation_p.S230I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	230						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGCATTCCAGTGGCAGCATG	0.572000													4	45					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70621556	70621556	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:70621556C>A	uc004dzu.4	+	24	4013	c.3962C>A	c.(3961-3963)aCc>aAc	p.T1321N	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.T1342N|TAF1_uc004dzv.4_Missense_Mutation_p.T495N	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1321					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTGAAGGGACCAAAATTGTC	0.433000													26	13					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696691	33696691	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:33696691G>A	uc010edh.3	+	4	1108	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	LRP3_uc010xrp.1_Missense_Mutation_p.A213T|LRP3_uc002nuk.4_Missense_Mutation_p.A213T	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	339	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCTGGAGGCCGCCCAGGGCCG	0.711000													3	14					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9043072	9043072	+	Silent	SNP	A	A	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:9043072A>G	uc003jek.2	-	22	3874	c.3162T>C	c.(3160-3162)caT>caC	p.H1054H		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	1054					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCCAGTGAGATGTGGGTTGA	0.333000													27	28					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563198	22563198	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:22563198G>A	uc002wsm.3	-	1	867	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	FOXA2_uc002wsn.3_Missense_Mutation_p.R222C	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	222					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCGGGCGAGCGGGGCACCTTC	0.627000													53	36					0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86193464	86193464	+	Silent	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:86193464C>G	uc003ydg.2	+	6	1017	c.675C>G	c.(673-675)gcC>gcG	p.A225A	CA13_uc003ydf.1_Intron	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	225					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TACAGCTGGCCAAATTTCGCA	0.463000													14	207					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34192255	34192255	+	Silent	SNP	G	G	A	rs145279639		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:34192255G>A	uc001bxm.1	-	15	2577	c.2400C>T	c.(2398-2400)agC>agT	p.S800S	CSMD2_uc001bxn.1_Silent_p.S760S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	760	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGATGGTGCCGCTGGGCGAAG	0.562000													24	26					0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35207242	35207242	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35207242G>C	uc021wcv.1	+	1	279	c.65G>C	c.(64-66)aGg>aCg	p.R22T	TGIF2_uc021wcu.1_Missense_Mutation_p.R22T|TGIF2_uc002xfn.3_Missense_Mutation_p.R22T|TGIF2_uc021wcw.1_Missense_Mutation_p.R22T|TGIF2_uc002xfo.3_Missense_Mutation_p.R22T	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGAAGCGCAGGGGGAACCTG	0.602000													53	123					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123628012	123628012	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:123628012G>T	uc004bks.1	-	8	1129	c.876C>A	c.(874-876)caC>caA	p.H292Q	PHF19_uc011lyf.1_Missense_Mutation_p.H83Q|PHF19_uc004bkr.2_Non-coding_Transcript	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGCTCCCAGTGGTGGTTGA	0.557000													20	55					0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52677447	52677447	+	Splice_Site	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:52677447C>G	uc004dqx.1	-	6	490	c.331_splice	c.e6-1	p.I111_splice		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TGGGCATGATCTTTATAATGT	0.438000													67	33					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935656	47935656	+	Silent	SNP	C	C	T	rs144930504	byFrequency	TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:47935656C>T	uc010ele.3	-	7	2173	c.2157G>A	c.(2155-2157)ccG>ccA	p.P719P	SLC8A2_uc002pgx.3_Silent_p.P719P|SLC8A2_uc010xyq.2_Silent_p.P475P|SLC8A2_uc010xyr.2_Silent_p.P182P			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	719					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAAAGCACGACGGCAGCCGCT	0.637000													40	73					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986290	42986290	+	Silent	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:42986290G>C	uc003otl.3	+	5	1034	c.729G>C	c.(727-729)tcG>tcC	p.S243S	KLHDC3_uc003otn.3_Silent_p.S127S|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Silent_p.S228S|KLHDC3_uc003oto.3_Silent_p.S184S	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	243					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGAGCCACTCGGCCTGTGAGT	0.572000													33	198					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1650881	1650881	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650881C>G	uc001agv.1	-	3	324	c.241G>C	c.(241-243)Gat>Cat	p.D81H	CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_Missense_Mutation_p.D47H|CDK11B_uc001agw.1_Missense_Mutation_p.D47H|CDK11B_uc001agy.1_Missense_Mutation_p.D81H|CDK11B_uc001agx.1_Missense_Mutation_p.D81H|CDK11B_uc001agz.1_5'UTR|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc009vkr.3_Missense_Mutation_p.D81H|CDK11B_uc009vks.3_Missense_Mutation_p.D81H|CDK11B_uc010nys.2_Missense_Mutation_p.D81H|CDK11B_uc010nyt.1_Missense_Mutation_p.D81H|CDK11B_uc010nyu.1_Non-coding_Transcript|CDK11B_uc009vkt.1_Missense_Mutation_p.D81H|CDK11B_uc009vku.1_Missense_Mutation_p.D81H|CDK11B_uc009vkv.1_Missense_Mutation_p.D81H|CDK11B_uc001aht.1_Missense_Mutation_p.D81H|CDK11B_uc001ahu.1_Missense_Mutation_p.D81H|CDK11B_uc001ahv.1_Missense_Mutation_p.D81H|CDK11B_uc001ahw.1_Missense_Mutation_p.D81H	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	81					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GCCAAAGAATCATCTTCTTCT	0.393000													35	185					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50045994	50045994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:50045994C>A	uc003jon.4	+	3	338	c.156C>A	c.(154-156)taC>taA	p.Y52*	PARP8_uc011cpz.2_5'UTR|PARP8_uc003joo.3_Nonsense_Mutation_p.Y52*|PARP8_uc003jop.3_Nonsense_Mutation_p.Y52*	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	52						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTGTATCCTACTCAGTACATG	0.333000													5	2					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127481	3127481	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:3127481G>C	uc021vzx.1	-	0	2236	c.2236C>G	c.(2236-2238)Cga>Gga	p.R746G	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.R746G	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	746	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.R746Q(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGCGAGTTCGTTTCAGTAGT	0.488000													35	83					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21940750	21940750	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:21940750G>A	uc003svc.3	+	82	13481	c.13450G>A	c.(13450-13452)Gag>Aag	p.E4484K	CDCA7L_uc003sve.4_3'UTR|CDCA7L_uc010kuk.3_3'UTR|CDCA7L_uc010kul.3_3'UTR|CDCA7L_uc003svf.4_3'UTR	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4484					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAGACCTACGAGTGCCCTGT	0.527000									Kartagener syndrome				48	59					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761779	55761779	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:55761779G>A	uc010riv.2	-	0	323	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A108A(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTCGGTTGTCGCCAGGGAGAT	0.478000													52	34					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1828425	1828425	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:1828425G>A	uc002lua.4	-	1	458	c.363C>T	c.(361-363)tcC>tcT	p.S121S	REXO1_uc010dsr.1_Silent_p.S75S	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	121						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		gggccTCGGCGGAGCGGTGCT	0.731000													18	2					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377285	44377285	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:44377285C>T	uc002oxs.4	-	1	1072	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAGGCCTTTCCACAATCCTTA	0.393000													17	14					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251350	40251350	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:40251350G>A	uc003cka.3	+	10	1806	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.S557S|MYRIP_uc010hhw.3_Silent_p.S468S|MYRIP_uc011ayz.2_Silent_p.S370S|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	557	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TTTAGGTGTCGGATGATTTAT	0.483000													30	64					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130764852	130764852	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:130764852G>T	uc003kvn.2	-	26	4729	c.4523C>A	c.(4522-4524)cCt>cAt	p.P1508H	RAPGEF6_uc003kvp.2_Missense_Mutation_p.P1558H|RAPGEF6_uc003kvo.2_Intron|RAPGEF6_uc010jdi.2_Missense_Mutation_p.P1516H|RAPGEF6_uc010jdj.2_Intron|RAPGEF6_uc003kvm.2_Missense_Mutation_p.P431H	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1508					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCCTGGAGGAGTGGGAGG	0.448000													73	7					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576290	158576290	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:158576290G>C	uc010pio.2	+	0	62	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S20Y(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCCAGTTCTGGGGAGTTGCAG	0.473000													16	120					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386910	124386910	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:124386910C>T	uc003vli.3	-	1	2162	c.1511G>A	c.(1510-1512)tGc>tAc	p.C504Y		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	504				FC -> LG (in Ref. 3; AAC51281).		endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGAATAATGCAAAATCCATA	0.423000													25	38					0	0	1	0	0
HBXIP	10542	broad.mit.edu	37	1	110950343	110950343	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:110950343G>T	uc001dzr.3	-	0	204	c.146C>A	c.(145-147)cCg>cAg	p.P49Q		NM_006402	NP_006393	O43504	HBXIP_HUMAN	Homo sapiens hepatitis B virus x interacting protein (HBXIP), mRNA.	0					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGACCGTAACGGCGCCTCCAA	0.617000													11	49					0	0	1	0	0
SNAR-C3	100170226	broad.mit.edu	37	19	48453574	48453574	+	RNA	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:48453574C>G	uc010xzb.1	+	0		c.22C>G								Homo sapiens small ILF3/NF90-associated RNA C3 (SNAR-C3), small nuclear RNA.																		GTGGCTCCGGCCGGTTGCGCG	0.592000													3	33					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230203056	230203056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:230203056delG	uc010pwa.1	+	0	101	c.29delG	c.(28-30)tgcfs	p.C10fs	GALNT2_uc010pvy.1_Intron|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	10					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ATGCTGCTCTGCTTCGCCTTC	0.771													2	4	---	---	---	---					
NGEF	25791	broad.mit.edu	37	2	233785144	233785144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:233785144delC	uc002vts.2	-	4	926	c.678delG	c.(676-678)gagfs	p.E226fs	NGEF_uc010fyg.1_Frame_Shift_Del_p.E134fs|NGEF_uc002vtt.2_Frame_Shift_Del_p.E134fs	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcct	0.592													32	36	---	---	---	---					
CUTC	51076	broad.mit.edu	37	10	101492109	101492109	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr10:101492109delA	uc001kqd.4	+	0	152	c.4delA	c.(4-6)aaafs	p.K2fs	COX15_uc001kqc.4_5'UTR|COX15_uc010qpj.2_5'UTR|COX15_uc001kqb.4_5'UTR|CUTC_uc010qpk.2_Frame_Shift_Del_p.K2fs|CUTC_uc001kqe.4_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA.	2					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GTGGAGCATGAAAAGGCAGGG	0.677													2	4	---	---	---	---					
PIEZO1	9780	broad.mit.edu	37	16	88800396	88800398	+	In_Frame_Del	DEL	CTG	CTG	-	rs62639697		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr16:88800396_88800398delCTG	uc010vpb.2	-	16	2245_2247	c.2245_2247delCAG	c.(2245-2247)cagdel	p.Q749del	PIEZO1_uc010cib.3_In_Frame_Del_p.Q286del|AK294743_uc010vpc.1_Intron	NM_001142864	NP_001136336	Q92508	PIEZ1_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 1 (PIEZO1), mRNA.	749						ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	ion channel activity	p.Q749delQ(2)|p.E756_D757insE(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						cctcctcctcctgctgctgctgc	0.665													3	4	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61835075	61835075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:61835075delC	uc002yeh.3	-	3	511	c.217delG	c.(217-219)gctfs	p.A73fs	YTHDF1_uc011aaq.2_Frame_Shift_Del_p.A23fs	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	73										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACCACGGAGCCTCATTGAGG	0.517													44	93	---	---	---	---					
