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
PIK3CD	5293	broad.mit.edu	37	1	9776098	9776098	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:9776098C>T	ENST00000536656.1	+	5	770	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R188W			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	188					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCCCGAACCGGGCCCTTCT	0.657													6	16	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16893756	16893756	+	Silent	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:16893756T>C	ENST00000430580.2	-	25	3644	c.2757A>G	c.(2755-2757)gaA>gaG	p.E919E	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	919	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTCAGTCAGTTCAAGATAAC	0.488													26	2935	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277018	152277018	+	Silent	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:152277018G>A	ENST00000368799.1	-	3	10379	c.10344C>T	c.(10342-10344)tcC>tcT	p.S3448S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3448	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCGTAGTGGGATCCCTGCC	0.602									Ichthyosis				45	359	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181546961	181546961	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:181546961C>A	ENST00000526775.1	+	4	737	c.572C>A	c.(571-573)gCt>gAt	p.A191D	CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A191D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	191					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A191V(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCTCCGGGCTGTGCGTGTC	0.547													3	14	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685230	248685230	+	Missense_Mutation	SNP	G	G	A	rs148238174		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:248685230G>A	ENST00000343414.4	+	1	315	c.283G>A	c.(283-285)Ggt>Agt	p.G95S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGCTACGGTGGCTGTGT	0.537													20	60	---	---	---	---
RGPD4	285190	broad.mit.edu	37	2	108487639	108487639	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:108487639T>G	ENST00000408999.3	+	20	3256	c.3179T>G	c.(3178-3180)cTg>cGg	p.L1060R	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1060	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAAAAAGTTCTGTATTCACAG	0.393													108	506	---	---	---	---
BCL2L11	10018	broad.mit.edu	37	2	111907651	111907651	+	Missense_Mutation	SNP	T	T	A	rs114585494	byFrequency	TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:111907651T>A	ENST00000393256.3	+	3	698	c.425T>A	c.(424-426)aTg>aAg	p.M142K	BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	142					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCTGCAGATATGCGCCCAGAG	0.448													5	45	---	---	---	---
NBEAL1	65065	broad.mit.edu	37	2	204073899	204073899	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:204073899A>G	ENST00000449802.1	+	52	7885	c.7552A>G	c.(7552-7554)Ata>Gta	p.I2518V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2518							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGTGATTATACATACCAT	0.388													22	85	---	---	---	---
FZD5	7855	broad.mit.edu	37	2	208632400	208632400	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:208632400C>A	ENST00000295417.3	-	2	1617	c.1064G>T	c.(1063-1065)gGc>gTc	p.G355V		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	355					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTGCGCGTAGCCCGCGATGGC	0.662													3	18	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225719727	225719727	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:225719727G>T	ENST00000409592.3	-	16	1936	c.1823C>A	c.(1822-1824)cCt>cAt	p.P608H	DOCK10_ENST00000258390.7_Missense_Mutation_p.P614H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	614							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGGCTTCCAGGAATGGTCTG	0.428													3	16	---	---	---	---
UBA7	7318	broad.mit.edu	37	3	49845862	49845862	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr3:49845862A>C	ENST00000333486.3	-	19	2545	c.2387T>G	c.(2386-2388)gTc>gGc	p.V796G		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	796					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACACTCCAGACTTCCAGGGC	0.587													16	48	---	---	---	---
ZNF732	654254	broad.mit.edu	37	4	265718	265718	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:265718C>T	ENST00000419098.1	-	4	938	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTGCCACATTCCTGACATTTG	0.388													3	15	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79340185	79340185	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:79340185A>G	ENST00000264895.6	+	33	4948	c.4508A>G	c.(4507-4509)tAc>tGc	p.Y1503C	FRAS1_ENST00000325942.6_Missense_Mutation_p.Y1503C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1502					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGATTGTCTACAACATCACT	0.363													6	104	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104579429	104579429	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:104579429A>C	ENST00000304883.2	-	2	820	c.680T>G	c.(679-681)aTg>aGg	p.M227R		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	227						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACGGCCTGGCATGACTTTGGT	0.398													10	48	---	---	---	---
RAB33B	83452	broad.mit.edu	37	4	140375467	140375467	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:140375467G>C	ENST00000305626.5	+	1	507	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					AATCGTGATCGGCGACTCCAA	0.622													16	21	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13871697	13871697	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:13871697C>T	ENST00000265104.4	-	23	3678	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1192	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGGAACCCACACAGACATAT	0.368									Kartagener syndrome				43	46	---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179740918	179740918	+	Silent	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:179740918G>A	ENST00000253778.8	-	14	1489	c.1320C>T	c.(1318-1320)cgC>cgT	p.R440R		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	440	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAGAGCGCCGCGGTCCTTAC	0.726													12	13	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30128486	30128486	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:30128486G>T	ENST00000449742.2	-	1	225	c.150C>A	c.(148-150)gaC>gaA	p.D50E	TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	50						cytoplasm	zinc ion binding			ovary(1)	1						ACTCCTCCAGGTCTGGGCCTG	0.612													33	127	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21920441	21920441	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr7:21920441A>G	ENST00000328843.6	+	76	12369	c.12338A>G	c.(12337-12339)tAt>tGt	p.Y4113C	DNAH11_ENST00000409508.3_Missense_Mutation_p.Y4106C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4113	AAA 6 (By similarity).				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						AGCCGAAGCTATCCTTTTAAT	0.483									Kartagener syndrome				12	80	---	---	---	---
TNFSF15	9966	broad.mit.edu	37	9	117552950	117552950	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr9:117552950C>T	ENST00000374045.4	-	4	651	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	180					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TTGGTGATGACCACAGTGATG	0.522													11	48	---	---	---	---
HERC4	26091	broad.mit.edu	37	10	69748522	69748522	+	Silent	SNP	T	T	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr10:69748522T>G	ENST00000395198.3	-	15	1951	c.1704A>C	c.(1702-1704)gtA>gtC	p.V568V	HERC4_ENST00000412272.2_Silent_p.V568V|HERC4_ENST00000277817.6_Silent_p.V458V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.V568V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	568					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCAAAAGATGTACCACAACTT	0.328													5	143	---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129752042	129752042	+	Missense_Mutation	SNP	G	G	A	rs139629776		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:129752042G>A	ENST00000446488.3	-	10	1233	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F|NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	377					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GAAGAAGCTGGAAGATATTTC	0.418											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58020538	58020538	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr12:58020538T>C	ENST00000341156.4	-	11	2175	c.1591A>G	c.(1591-1593)Acc>Gcc	p.T531A	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	531					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CACTGGGAGGTCATGCACTGC	0.592													22	153	---	---	---	---
RAB5C	5878	broad.mit.edu	37	17	40280287	40280287	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr17:40280287C>G	ENST00000393860.3	-	5	749	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.E145Q	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ACCTGGAATTCCACGGCTCTC	0.622													10	42	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64235830	64235830	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr18:64235830G>A	ENST00000262150.2	-	3	605	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	CDH19_ENST00000540086.1_Missense_Mutation_p.L105F	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	105	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTCTATCAAGCTTCTGTATG	0.433													4	78	---	---	---	---
ZNF845	91664	broad.mit.edu	37	19	53854634	53854634	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr19:53854634A>T	ENST00000458035.1	+	4	823	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	ZNF845_ENST00000595091.1_Missense_Mutation_p.I236F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATCAGATAATCCATTTAGG	0.373													7	57	---	---	---	---
FAM83F	113828	broad.mit.edu	37	22	40417338	40417338	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr22:40417338T>C	ENST00000333407.6	+	4	918	c.824T>C	c.(823-825)cTc>cCc	p.L275P	FAM83F_ENST00000473717.1_Missense_Mutation_p.L107P	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTCCTCCTGCTCCTGACAGGA	0.602													14	148	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44945222	44945222	+	Silent	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chrX:44945222A>G	ENST00000377967.4	+	24	3587	c.3546A>G	c.(3544-3546)gaA>gaG	p.E1182E	KDM6A_ENST00000382899.4_Silent_p.E1189E|KDM6A_ENST00000543216.1_Silent_p.E1103E|KDM6A_ENST00000536777.1_Silent_p.E1137E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1182	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACTTCTGTGAAAAGTAGGTTT	0.358			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	35	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425080	179425081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:179425080_179425081insT	ENST00000589042.1	-	326	86002_86003	c.85778_85779insA	c.(85777-85779)aatfs	p.N28593fs	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.N26025fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.N19720fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.N19528fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.N26952fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.N19653fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26952	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTAGGCTATTTTTCTCTCG	0.386													24	24	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71555199	71555210	+	In_Frame_Del	DEL	TACAACCTCTAC	TACAACCTCTAC	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:71555199_71555210delTACAACCTCTAC	ENST00000254803.2	+	1	1004_1015	c.805_816delTACAACCTCTAC	c.(805-816)tacaacctctacdel	p.YNLY269del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	269					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAGGACCAAGTACAACCTCTACTTGAATTATT	0.443													25	156	---	---	---	---
SLC22A3	6581	broad.mit.edu	37	6	160857879	160857879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:160857879delG	ENST00000392145.1	+	6	1070	c.1043delG	c.(1042-1044)aggfs	p.R348fs	SLC22A3_ENST00000275300.2_Frame_Shift_Del_p.R348fs			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	348						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CCCCAAATGAGGAAATGCACA	0.353													13	63	---	---	---	---
LRFN4	78999	broad.mit.edu	37	11	66625250	66625251	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:66625250_66625251delGT	ENST00000309602.4	+	1	278_279	c.35_36delGT	c.(34-36)agtfs	p.S12fs	LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	12						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTGCTGGCCAGTGGAGCGGCCG	0.713													12	20	---	---	---	---
