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
PAK7	57144	broad.mit.edu	37	20	9523285	9523285	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:9523285G>A	ENST00000378429.3	-	10	2498	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	PAK7_ENST00000378423.1_Missense_Mutation_p.A651V|PAK7_ENST00000353224.5_Missense_Mutation_p.A651V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	651	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTCCGCATCGCCTGGAGGGG	0.507000													34	81					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511261	61511261	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:61511261G>A	ENST00000266070.4	-	16	6372	c.6047C>T	c.(6046-6048)cCg>cTg	p.P2016L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2016	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATCACCTGCGGGGCCTGGCC	0.687000													4	158					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846020	18846020	+	RNA	SNP	T	T	C	rs1064861		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr22:18846020T>C	ENST00000412938.1	+	0	3378																											TCACTGACGTTGAAGGCTGCC	0.637000													3	34					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677874	100677874	+	Silent	SNP	G	G	A	rs147962629	byFrequency	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:100677874G>A	ENST00000306151.4	+	3	3241	c.3177G>A	c.(3175-3177)acG>acA	p.T1059T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1059	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1059T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTCTGAAACGAGCACACTTT	0.502000													7	558					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25144710	25144710	+	RNA	SNP	A	A	G	rs71218558	by1000genomes	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:25144710A>G	ENST00000453498.1	+	0	251																											GATGTGTTTAACACAGCCCCT	0.398000													3	27					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156626790	156626790	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:156626790C>A	ENST00000329117.4	+	10	2447	c.2111C>A	c.(2110-2112)tCc>tAc	p.S704Y	BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	704	C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACTTTTCCACACGAAGG	0.627000													18	30					5.3912e-06	6.23688e-06	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13923453	13923453	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:13923453C>A	ENST00000265104.4	-	4	478	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G125V(1)		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)					CACACATACCCCAGTAAGAGC	0.473000									Kartagener syndrome				4	201					0.00909568	0.00941483	1	1	0
CAMKK2	10645	broad.mit.edu	37	12	121678617	121678617	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:121678617C>T	ENST00000324774.5	-	17	2480	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	CAMKK2_ENST00000347034.2_Missense_Mutation_p.G508E|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E537K|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G551E|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E494K|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G551E|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E537K|CAMKK2_ENST00000545538.1_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	551					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCACTTCCTCCTCCCCCACG	0.647000													15	39					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649291	48649291	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:48649291C>T	ENST00000352832.5	+	5	1011	c.639C>T	c.(637-639)aaC>aaT	p.N213N	CACNA1G_ENST00000354983.4_Silent_p.N213N|CACNA1G_ENST00000416767.4_Silent_p.N213N|CACNA1G_ENST00000429973.2_Silent_p.N213N|CACNA1G_ENST00000442258.2_Silent_p.N213N|CACNA1G_ENST00000510115.1_Silent_p.N213N|CACNA1G_ENST00000502264.1_Silent_p.N213N|CACNA1G_ENST00000503485.1_Silent_p.N213N|CACNA1G_ENST00000514717.1_Silent_p.N213N|CACNA1G_ENST00000512389.1_Silent_p.N213N|CACNA1G_ENST00000515165.1_Silent_p.N213N|CACNA1G_ENST00000513964.1_Silent_p.N213N|CACNA1G_ENST00000513689.2_Silent_p.N213N|CACNA1G_ENST00000507609.1_Silent_p.N213N|CACNA1G_ENST00000514079.1_Silent_p.N213N|CACNA1G_ENST00000514181.1_Silent_p.N213N|CACNA1G_ENST00000505165.1_Silent_p.N213N|CACNA1G_ENST00000515765.1_Silent_p.N213N|CACNA1G_ENST00000515411.1_Silent_p.N213N|CACNA1G_ENST00000358244.5_Silent_p.N213N|CACNA1G_ENST00000510366.1_Silent_p.N213N|CACNA1G_ENST00000360761.4_Silent_p.N213N|CACNA1G_ENST00000359106.5_Silent_p.N213N|CACNA1G_ENST00000507510.2_Silent_p.N213N|CACNA1G_ENST00000507336.1_Silent_p.N213N|CACNA1G_ENST00000507896.1_Silent_p.N213N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	213					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTGGGCAACGTCCTGCTGC	0.617000													24	52					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62422012	62422012	+	Silent	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:62422012G>T	ENST00000245663.4	-	2	249	c.99C>A	c.(97-99)gtC>gtA	p.V33V	ZBTB46_ENST00000395104.1_Silent_p.V33V|ZBTB46_ENST00000302995.2_Silent_p.V33V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	33	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGACCACGCAGACGTCGCACA	0.587000													7	30					0.000274275	0.000294222	1	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55331320	55331320	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:55331320C>A	ENST00000391728.4	+	4	541	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q75K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q170K	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTCGTTGGACAGATCCATGA	0.517000													5	272					0.0215528	0.0219244	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79060504	79060504	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr15:79060504C>A	ENST00000388820.4	-	17	2826	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	872	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCTGCACTTCCTCTGTTGGT	0.697000													3	9					6.4e-05	7.12453e-05	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144940742	144940742	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:144940742G>A	ENST00000525985.1	-	2	6751	c.6680C>T	c.(6679-6681)gCg>gTg	p.A2227V				P58107	EPIPL_HUMAN	epiplakin 1	2227						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGACGCCCGCGATGCAGCT	0.677000													4	165					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516368	118516368	+	Splice_Site	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:118516368G>A	ENST00000361417.2	+	17	3827	c.3416_splice	c.e17+1	p.S1139_splice	PHLDB1_ENST00000356063.5_Splice_Site_p.S1092_splice|PHLDB1_ENST00000527898.1_Splice_Site_p.S190_splice|PHLDB1_ENST00000524713.1_Splice_Site_p.S282_splice|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1139										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AACATGTCCAGGTACACCCGA	0.637000													31	66					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	82					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47918601	47918601	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr21:47918601C>T	ENST00000318711.7	+	5	693	c.510C>T	c.(508-510)gtC>gtT	p.V170V	DIP2A_ENST00000435722.3_Silent_p.V170V|DIP2A_ENST00000466639.1_Silent_p.V170V|DIP2A_ENST00000427143.2_Silent_p.V106V|DIP2A_ENST00000417564.2_Silent_p.V170V|DIP2A_ENST00000400274.1_Silent_p.V170V|DIP2A_ENST00000457905.3_Silent_p.V170V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	170					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCGACCGGGTCATTCAGGGCT	0.667000													6	91					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54128611	54128611	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:54128611G>A	ENST00000404125.1	-	28	3216	c.3161C>T	c.(3160-3162)cCa>cTa	p.P1054L	PSME4_ENST00000421748.2_Missense_Mutation_p.P198L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1054					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACAATCGCTGGCCACGTCTG	0.438000													65	112					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825433	21825433	+	RNA	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:21825433G>A	ENST00000426869.3	+	0	137					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ccgaggctccggcctgacttc	0.622000													9	18					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	137					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36223967	36223967	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36223967G>T	ENST00000540320.1	+	51	8417	c.7883G>T	c.(7882-7884)aGa>aTa	p.R2628I	NBEA_ENST00000400445.3_Missense_Mutation_p.R2628I|NBEA_ENST00000379939.2_Missense_Mutation_p.R2625I|NBEA_ENST00000310336.4_Missense_Mutation_p.R2628I|NBEA_ENST00000537702.1_Missense_Mutation_p.R421I|NBEA_ENST00000379922.3_Missense_Mutation_p.R206I			Q8NFP9	NBEA_HUMAN	neurobeachin	2628						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAGTGAATAGATGGCACAAC	0.448000													18	54					5.35267e-07	6.31615e-07	1	1	0
RGS6	9628	broad.mit.edu	37	14	72976895	72976895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr14:72976895G>A	ENST00000553530.1	+	14	1206	c.999G>A	c.(997-999)tgG>tgA	p.W333*	RGS6_ENST00000434263.2_Nonsense_Mutation_p.W264*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.W333*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.W194*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.W296*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	333					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TAAAAAGATGGGGCTTCTCTT	0.453000													54	89					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220284136	220284136	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:220284136A>T	ENST00000366922.1	+	11	1451	c.1120A>T	c.(1120-1122)Atg>Ttg	p.M374L	IARS2_ENST00000302637.5_Missense_Mutation_p.M446L			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	446					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGTTATAAAGATGCTTCAGAC	0.338000													14	73					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383203	108383203	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:108383203T>C	ENST00000265843.4	-	6	3141	c.3031A>G	c.(3031-3033)Aaa>Gaa	p.K1011E	EXPH5_ENST00000428840.1_Missense_Mutation_p.K935E|EXPH5_ENST00000443411.1_Missense_Mutation_p.K823E|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1004E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1011					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAGAAACTTTGGAATTGCTT	0.378000													4	111					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								31	64					0	0	1	0	0
IGHV1OR21-1	0	broad.mit.edu	37	21	10862768	10862768	+	RNA	SNP	C	C	G			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr21:10862768C>G	ENST00000559480.1	+	0	64																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTCCCAGGTACAGCTGGTGCA	0.547000													37	297					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14220007	14220007	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr3:14220007G>C	ENST00000285021.7	-	1	276	c.62C>G	c.(61-63)tCc>tGc	p.S21C	XPC_ENST00000449060.2_Missense_Mutation_p.S21C|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	21					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTGGCCTTGGATTTCTGGCT	0.697000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	56					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959361	117959361	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:117959361G>T	ENST00000310164.2	+	4	661	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ctcggggagggtggtgccagc	0.552000													14	70					1.49906e-05	1.70086e-05	1	1	0
FLAD1	80308	broad.mit.edu	37	1	154965110	154965110	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:154965110T>C	ENST00000405236.2	+	3	989	c.989T>C	c.(988-990)aTg>aCg	p.M330T	FLAD1_ENST00000295530.2_Missense_Mutation_p.M162T|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000315144.10_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			GAGCCATGGATGGGCCCCTTC	0.507000													22	30					0	0	1	0	0
C8orf33	65265	broad.mit.edu	37	8	146278468	146278468	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:146278468A>T	ENST00000331434.6	+	3	453	c.339A>T	c.(337-339)gaA>gaT	p.E113D		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	113										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		TGGCCCAGGAATTGGCTTGGT	0.597000													14	31					0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128369970	128369970	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:128369970C>T	ENST00000315184.5	+	6	921	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	FAM71F1_ENST00000485070.1_Missense_Mutation_p.R189C	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	290										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGATTCTTCCCGTGAAGACAG	0.527000													5	131					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155171215	155171215	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:155171215G>T	ENST00000368378.3	-	11	1342	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_Missense_Mutation_p.S291Y|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.S321Y|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	441	EGF-like 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCTGGCAGGACACTGCACC	0.612000													6	91					0.217242	0.217242	1	1	0
SMARCC2	6601	broad.mit.edu	37	12	56558274	56558274	+	Silent	SNP	C	C	T	rs142435936		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:56558274C>T	ENST00000550164.1	-	28	3488	c.3474G>A	c.(3472-3474)ccG>ccA	p.P1158P	SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000267064.4_Silent_p.P1127P			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1127	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGAGAGTGCCCGGGGCGAACG	0.592000													7	79					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456565	82456565	+	Silent	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:82456565T>C	ENST00000370728.1	+	25	4761	c.4116T>C	c.(4114-4116)taT>taC	p.Y1372Y	LPHN2_ENST00000370717.2_Silent_p.Y1387Y|LPHN2_ENST00000370727.1_Silent_p.Y1344Y|LPHN2_ENST00000335786.5_Silent_p.Y1329Y|LPHN2_ENST00000370723.1_Silent_p.Y1374Y|LPHN2_ENST00000359929.3_Silent_p.Y1316Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Silent_p.Y1344Y|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000394879.1_Silent_p.Y1374Y|LPHN2_ENST00000319517.6_Silent_p.Y1316Y|LPHN2_ENST00000370730.1_Silent_p.Y1329Y|LPHN2_ENST00000370721.1_Silent_p.Y1297Y|LPHN2_ENST00000370725.1_Silent_p.Y1387Y			O95490	LPHN2_HUMAN	latrophilin 2	1372					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTCTCTTTATACAAGCATGC	0.512000													22	43					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364638	100364638	+	RNA	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:100364638G>A	ENST00000542585.1	+	0	4766				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGGTGCCGCCACCTGCAC	0.607000													35	122					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54475673	54475673	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:54475673G>A	ENST00000375135.3	-	15	2910	c.2177C>T	c.(2176-2178)aCg>aTg	p.T726M		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	726					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGATGGGCGTAGGTGCCCG	0.607000													5	18					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67485730	67485730	+	Silent	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:67485730T>C	ENST00000522677.3	-	11	1892	c.1482A>G	c.(1480-1482)acA>acG	p.T494T	MYBL1_ENST00000517885.1_Silent_p.T152T|MYBL1_ENST00000524176.2_Silent_p.T494T	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	494	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCAGGACATGTGTTGAAAA	0.323000													23	18					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298906	125298906	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:125298906C>T	ENST00000538699.1	-	2	1082	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	DCAF12L2_ENST00000360028.2_Silent_p.P334P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334								p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGCGCTGGCGCGGATCCAGGA	0.622000													41	62					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94532857	94532857	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:94532857G>A	ENST00000433060.2	+	3	642	c.501G>A	c.(499-501)gtG>gtA	p.V167V	AMOTL1_ENST00000317829.8_Silent_p.V117V|AMOTL1_ENST00000317837.9_Silent_p.V167V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	167						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AACACCAGGTGGACAATACGG	0.527000													10	25					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168912	142168912	+	RNA	SNP	A	A	G			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:142168912A>G	ENST00000454561.2	-	0	133																											AGCCGAGTGAATTCTGGGCCT	0.582000													4	21					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541201	178541201	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:178541201G>A	ENST00000251582.7	-	22	3404	c.3303C>T	c.(3301-3303)aaC>aaT	p.N1101N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1101					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCCCTCCACGTTGGTGAGGT	0.547000													4	38					0	0	1	0	0
CAMKMT	79823	broad.mit.edu	37	2	44931420	44931420	+	Splice_Site	SNP	A	A	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:44931420A>C	ENST00000378494.3	+	4	420		c.e4-1			NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase							cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						TGTGTTTTCTAGGCATCTGGC	0.348000													11	70					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64531401	64531401	+	RNA	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:64531401C>T	ENST00000426828.1	+	0	1209					NR_033416.1																						TTTGCTGATGCGTTGCTCGTT	0.438000													4	41					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924714	166924714	+	Silent	SNP	C	C	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr4:166924714C>A	ENST00000061240.2	+	6	1451	c.804C>A	c.(802-804)atC>atA	p.I268I	TLL1_ENST00000507499.1_Silent_p.I268I|TLL1_ENST00000513213.1_Silent_p.I268I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	268	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGAAAACATCCAGCCAGGTG	0.383000													21	36					5.26018e-13	6.33368e-13	1	1	0
OR2D2	120776	broad.mit.edu	37	11	6913253	6913253	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:6913253G>C	ENST00000299459.2	-	1	577	c.479C>G	c.(478-480)aCc>aGc	p.T160S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATGAAGGTGGTGTCTACCAC	0.502000													25	22					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170097528	170097528	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:170097528G>T	ENST00000263816.3	-	25	4300	c.4015C>A	c.(4015-4017)Ccc>Acc	p.P1339T	LRP2_ENST00000443831.1_Missense_Mutation_p.P1202T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1339	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCCCATTGGGGCAGTCAAAG	0.488000													4	60					0.00024832	0.000271313	1	1	0
TRAV3	0	broad.mit.edu	37	14	22192561	22192561	+	RNA	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr14:22192561G>A	ENST00000390425.2	+	0	512																											TCTGTGCTGTGAGAGACACAC	0.478000													5	21					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44660574	44660574	+	Silent	SNP	G	G	A			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:44660574G>A	ENST00000426739.2	+	6	663	c.405G>A	c.(403-405)agG>agA	p.R135R	ZNF234_ENST00000592437.1_Silent_p.R135R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	135	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCAGGTTAGGGCAGGACTAT	0.378000													20	44					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149513538	149513538	+	RNA	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:149513538C>T	ENST00000378016.2	+	0	11159							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCACGTCACGCAGCAGGTG	0.692000													5	2					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2678591	2678591	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr6:2678591C>T	ENST00000274643.7	-	10	1245	c.903G>A	c.(901-903)tcG>tcA	p.S301S	MYLK4_ENST00000268446.5_Silent_p.S301S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CCAGGAAAGGCGACAAACCGC	0.498000													4	118					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589876	108589876	+	Silent	SNP	C	C	T			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:108589876C>T	ENST00000332082.4	+	3	1085	c.267C>T	c.(265-267)taC>taT	p.Y89Y	WSCD2_ENST00000549903.1_Silent_p.Y89Y|WSCD2_ENST00000547525.1_Silent_p.Y89Y|WSCD2_ENST00000261400.3_Silent_p.Y89Y			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	89						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTCGCAGGTACGGACCCTGGT	0.612000													34	68					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	92979278	92979278	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:92979278T>C	ENST00000370331.1	-	18	2377	c.2368A>G	c.(2368-2370)Agc>Ggc	p.S790G	EVI5_ENST00000540033.1_Missense_Mutation_p.S790G|EVI5_ENST00000543509.1_Missense_Mutation_p.S801G	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	790	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACTTGGTTGCTCTCTCTGGTC	0.488000													57	112					0	0	1	0	0
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													3	3	---	---	---	---					
ARL4A	10124	broad.mit.edu	37	7	12728279	12728282	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:12728279_12728282delAACA	ENST00000396663.1	+	2	882_885	c.400_403delAACA	c.(400-405)aafs	p.NK134fs	ARL4A_ENST00000396662.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396664.2_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000404894.1_Frame_Shift_Del_p.NK134fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	134					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TATAGTTGCTAACAAACAAGATTT	0.402													17	74	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs140721287	by1000genomes	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													3	6	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	RNA	INS	-	-	G	rs141646579	by1000genomes	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:7080210_7080211insG	ENST00000546220.1	+	0	155_156				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													8	17	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12870948	12870948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:12870948delA	ENST00000228872.4	+	1	891	c.175delA	c.(175-177)agfs	p.K59fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.K59fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	59					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGCCAGCGCAAGTGGAATTT	0.577													65	77	---	---	---	---					
SPG20	23111	broad.mit.edu	37	13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36909272delA	ENST00000451493.1	-	2	913	c.696delT	c.(694-696)ttfs	p.F232fs	SPG20_ENST00000438666.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000355182.4_Frame_Shift_Del_p.F232fs	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	232					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGGATTTACAAAAAAAATCT	0.433													32	60	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577093	7577113	+	In_Frame_Del	DEL	CGGTCTCTCCCAGGACAGGCA	CGGTCTCTCCCAGGACAGGCA	-	rs28934574		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:7577093_7577113delCGGTCTCTCCCAGGACAGGCA	ENST00000420246.2	-	8	957_977	c.825_845delTGCCTGTCCTGGGAGAGACCG	c.(823-846)tgg>tg	p.CACPGRDR275del	TP53_ENST00000269305.4_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000455263.2_In_Frame_Del_p.CACPGRDR275del|TP53_ENST00000445888.2_In_Frame_Del_p.CACPGRDR275del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R280T(65)|p.P278L(61)|p.P278S(55)|p.R280K(49)|p.G279E(32)|p.P278R(30)|p.R282G(29)|p.D281E(28)|p.R282Q(27)|p.D281N(25)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.R280G(20)|p.D281H(19)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.R280S(15)|p.A276P(15)|p.C277Y(15)|p.P278H(13)|p.D281G(10)|p.R280fs*65(9)|p.A276S(9)|p.G279R(9)|p.R280*(8)|p.C277*(8)|p.0?(8)|p.C275W(7)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.D281V(5)|p.D281D(5)|p.C277G(5)|p.R282fs*24(4)|p.C275C(4)|p.A276G(4)|p.G279V(4)|p.C277C(4)|p.R282L(3)|p.R282H(3)|p.R282R(3)|p.R280R(3)|p.P278F(3)|p.G279G(3)|p.D281fs*63(2)|p.G279fs*27(2)|p.D281_R282>EW(2)|p.D281A(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.A276A(2)|p.G279fs*65(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.G279_R280delGR(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.G279fs*59(1)|p.P278_G279insXXXXX(1)|p.D281_R282insXX(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.A276fs*31(1)|p.V272_K292del21(1)|p.D281R(1)|p.A276_R283delACPGRDRR(1)|p.R273_C275delRVC(1)|p.R280fs*62(1)|p.C275*(1)|p.D281fs*24(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.C275fs*67(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.C277R(1)|p.C277S(1)|p.D281_R282delDR(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)		CTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCA	0.552		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)			17	16	---	---	---	---					
RRP7B	0	broad.mit.edu	37	22	42971787	42971788	+	RNA	DEL	CA	CA	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr22:42971787_42971788delCA	ENST00000357802.2	-	0	784																											GGCCTCTTTCCACAGAGTCTGG	0.663													4	6	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938929	76938929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:76938929delC	ENST00000373344.5	-	9	2033	c.1819delG	c.(1819-1821)aafs	p.E607fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.E569fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	607					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTGGAACTTCCTGACAATCA	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						173	330	---	---	---	---