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
FLG2	388698	broad.mit.edu	37	1	152323407	152323407	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152323407C>A	ENST00000388718.5	-	3	6927	c.6855G>T	c.(6853-6855)caG>caT	p.Q2285H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2285							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGATCCTGGCTGTCTTTGTT	0.507													64	87	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152327428	152327428	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152327428G>T	ENST00000388718.5	-	3	2906	c.2834C>A	c.(2833-2835)aCt>aAt	p.T945N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	945	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCCAAAAGTCTGTCCTGA	0.493													5	250	---	---	---	---
LCE2A	353139	broad.mit.edu	37	1	152671573	152671573	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr1:152671573G>A	ENST00000368779.1	+	2	247	c.196G>A	c.(196-198)Ggc>Agc	p.G66S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	66	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGGTGGCGGCTGCTGCCT	0.687													5	80	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37284597	37284597	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:37284597G>A	ENST00000233099.5	-	15	2181	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	HEATR5B_ENST00000354531.2_Silent_p.L696L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	696							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCCGCTACCAGTTCTCTAAGA	0.368													15	27	---	---	---	---
AAMP	14	broad.mit.edu	37	2	219129773	219129773	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:219129773G>A	ENST00000248450.4	-	10	1369	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M	AAMP_ENST00000420660.1_Missense_Mutation_p.T381M|AAMP_ENST00000444053.1_Missense_Mutation_p.T401M			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	400					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATCTCAGCCGTGTGGCCCCG	0.592													4	98	---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238737875	238737875	+	Silent	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:238737875T>C	ENST00000316997.4	+	13	2751	c.2619T>C	c.(2617-2619)gcT>gcC	p.A873A	RBM44_ENST00000409864.1_Silent_p.A873A	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	872	RRM.						nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CATCTCTTGCTTTTACAAAAA	0.323													2	4	---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15736275	15736275	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:15736275T>A	ENST00000399451.2	-	17	2009	c.1642A>T	c.(1642-1644)Aga>Tga	p.R548*	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Nonsense_Mutation_p.R581*	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	548						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTGTTGCTCTATTATCTGAA	0.373													22	30	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127327355	127327355	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr3:127327355A>G	ENST00000265056.7	+	7	1476	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	411					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CCAGGAGACGAGATAGTAAGT	0.642													16	20	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115767000	115767000	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr4:115767000G>C	ENST00000264363.2	-	10	2772	c.2094C>G	c.(2092-2094)gaC>gaG	p.D698E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	698	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			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)		AGTATGCCCTGTCTGAGGGGT	0.423													15	40	---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140432268	140432268	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:140432268G>T	ENST00000306549.3	+	1	1290	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		405	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTACTCACTGGTCACTGACAG	0.483													27	47	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147505314	147505314	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:147505314T>C	ENST00000359874.3	+	30	2931	c.2858T>C	c.(2857-2859)aTa>aCa	p.I953T	SPINK5_ENST00000256084.7_Missense_Mutation_p.I923T	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	923	Kazal-like 14.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACTATATAAGGAACAAT	0.413													60	90	---	---	---	---
UBLCP1	134510	broad.mit.edu	37	5	158696066	158696066	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr5:158696066T>G	ENST00000296786.6	+	2	469	c.143T>G	c.(142-144)cTc>cGc	p.L48R		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTTGGACTCAAAGTTAAA	0.318													25	44	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33374066	33374066	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:33374066C>A	ENST00000428849.2	+	8	2080	c.1630C>A	c.(1630-1632)Cta>Ata	p.L544I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	544	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTATTCCAGCTACAGATTTC	0.642													57	85	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121642938	121642938	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr6:121642938T>A	ENST00000275159.6	-	2	157	c.158A>T	c.(157-159)tAt>tTt	p.Y53F	TBC1D32_ENST00000398212.2_Missense_Mutation_p.Y53F					TBC1 domain family, member 32																		CACAAATTCATAGCTGAAACA	0.318													29	44	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34192862	34192862	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:34192862C>A	ENST00000297161.2	+	16	2409	c.2035C>A	c.(2035-2037)Cca>Aca	p.P679T	BMPER_ENST00000426693.1_Missense_Mutation_p.P679T	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	679	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGCATCAAGCCAGTCCTTTG	0.507													18	37	---	---	---	---
PTN	5764	broad.mit.edu	37	7	136936041	136936041	+	Silent	SNP	G	G	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr7:136936041G>A	ENST00000348225.2	-	4	814	c.387C>T	c.(385-387)gcC>gcT	p.A129A	PTN_ENST00000393083.2_Silent_p.A129A	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	129					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTGGCATTCGGCATTGTGCA	0.507													61	104	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39769118	39769118	+	Silent	SNP	A	A	G			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:39769118A>G	ENST00000553728.1	+	13	2541	c.2328A>G	c.(2326-2328)aaA>aaG	p.K776K	CTAGE5_ENST00000557038.1_Silent_p.K161K|CTAGE5_ENST00000341502.5_Silent_p.K241K|RP11-407N17.3_ENST00000603904.1_Silent_p.K212K|CTAGE5_ENST00000396165.4_Silent_p.K212K|CTAGE5_ENST00000553352.1_Silent_p.K212K|CTAGE5_ENST00000556148.1_Silent_p.K166K|CTAGE5_ENST00000280083.3_Silent_p.K241K|CTAGE5_ENST00000396158.2_Silent_p.K246K|CTAGE5_ENST00000341749.3_Silent_p.K229K|CTAGE5_ENST00000348007.3_Silent_p.K241K																							AACTTAATAAACAGAAAGTAA	0.323													28	32	---	---	---	---
TRIM9	114088	broad.mit.edu	37	14	51560842	51560842	+	Silent	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr14:51560842T>A	ENST00000298355.3	-	1	1937	c.816A>T	c.(814-816)ctA>ctT	p.L272L	TRIM9_ENST00000360392.4_Silent_p.L272L|TRIM9_ENST00000338969.5_Silent_p.L272L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	272					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCACCTTATGTAGTTTCCACA	0.567													20	31	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28434998	28434998	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr17:28434998T>C	ENST00000394835.3	+	23	4660	c.4468T>C	c.(4468-4470)Tat>Cat	p.Y1490H	EFCAB5_ENST00000394832.2_Missense_Mutation_p.Y962H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.Y1366H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1490							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACTGACAATTATATGTATGC	0.373													34	51	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22942458	22942458	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr19:22942458A>T	ENST00000397104.3	-	4	315	c.316T>A	c.(316-318)Ttt>Att	p.F106I	ZNF99_ENST00000596209.1_Missense_Mutation_p.F85I					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGGCCAAAAGTCTTGTGTA	0.289													6	7	---	---	---	---
ARHGAP36	158763	broad.mit.edu	37	X	130217750	130217750	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chrX:130217750T>A	ENST00000276211.5	+	4	707	c.362T>A	c.(361-363)cTg>cAg	p.L121Q	ARHGAP36_ENST00000370921.1_5'UTR|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L109Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	121					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAAGAGGTCCTGGTGAACGAG	0.552													54	19	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166165198	166165198	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr2:166165198delA	ENST00000375437.2	+	5	789	c.499delA	c.(499-501)actfs	p.T167fs	SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	167					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGAATTTATACTTTTGAATC	0.313													24	51	---	---	---	---
PUS7L	83448	broad.mit.edu	37	12	44148985	44148996	+	In_Frame_Del	DEL	CAACGTGATCAT	CAACGTGATCAT	-	rs145711853	byFrequency	TCGA-YL-A8SA-01A-21D-A377-08	TCGA-YL-A8SA-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52f7bad1-8f6c-459c-8919-247d1e7189ea	7b1edb67-d4ef-43db-b35d-99054028f6bc	g.chr12:44148985_44148996delCAACGTGATCAT	ENST00000416848.2	-	2	541_552	c.53_64delATGATCACGTTG	c.(52-66)aatgatcacgttgga>aga	p.18_22NDHVG>R	PUS7L_ENST00000553166.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000551923.1_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000344862.5_In_Frame_Del_p.18_22NDHVG>R|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	18					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CCATGAAATCCAACGTGATCATTAAAGAAACA	0.330													10	17	---	---	---	---
