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
SIDT2	51092	broad.mit.edu	37	11	117058406	117058406	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr11:117058406G>A	ENST00000324225.4	+	12	1681	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	SIDT2_ENST00000431081.2_Missense_Mutation_p.G388S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	384						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCTCTCTTACGGTTACCAGGG	0.592000													16	81					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309215	248309215	+	Missense_Mutation	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:248309215T>A	ENST00000366476.1	+	1	766	c.766T>A	c.(766-768)Ttg>Atg	p.L256M		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGAGCAGGTTTGTTCATGTA	0.507000													82	202					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42734502	42734502	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:42734502A>G	ENST00000263805.4	-	7	3789	c.3463T>C	c.(3463-3465)Ttt>Ctt	p.F1155L	ZNF106_ENST00000565611.1_Missense_Mutation_p.F340L|ZNF106_ENST00000565380.1_Missense_Mutation_p.F383L	NM_022473.1	NP_071918.1			zinc finger protein 106																		AGTGGGAAAAAGGGAGTGGGC	0.522000													3	111					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683236	71683236	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:71683236T>C	ENST00000393524.2	-	17	4061	c.3328A>G	c.(3328-3330)Agg>Ggg	p.R1110G	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R1177G|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R1212G|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R1177G			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1177						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TCCAGATCCCTCCCCCTGCAG	0.542000													3	108					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													3	84					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40282394	40282394	+	Missense_Mutation	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:40282394T>G	ENST00000393860.3	-	3	443	c.127A>C	c.(127-129)Aag>Cag	p.K43Q	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K43Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.K43Q|RAB5C_ENST00000547517.1_Missense_Mutation_p.K76Q	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	43					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)		AACTGTCCCTTGACAAAGCGG	0.547000													23	94					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791321	237791321	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:237791321G>A	ENST00000366574.2	+	41	6698	c.6381G>A	c.(6379-6381)cgG>cgA	p.R2127R	RYR2_ENST00000360064.6_Silent_p.R2125R|RYR2_ENST00000542537.1_Silent_p.R2111R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2127	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCAGATTCGGTCCCTGCTGA	0.483000													3	70					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138																											CATGAACACCATCAGCACAGC	0.632000													3	33					0	0	1	0	0
SEPSECS	51091	broad.mit.edu	37	4	25125832	25125832	+	Silent	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:25125832C>A	ENST00000382103.2	-	11	1299	c.1227G>T	c.(1225-1227)ggG>ggT	p.G409G	SEPSECS_ENST00000302922.3_Silent_p.G330G	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	409					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TTTGCATGGACCCAAGAGGCA	0.388000													7	46					0.0381472	0.0396731	1	1	0
ZBTB9	221504	broad.mit.edu	37	6	33423522	33423522	+	Silent	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552000													3	97					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	rs111360184		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186114607G>A	ENST00000271588.4	+	92	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557000													25	50					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023341	52023341	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr19:52023341T>A	ENST00000346477.3	-	7	1377	c.1309A>T	c.(1309-1311)Aag>Tag	p.K437*	CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.K401*|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000425629.3_Nonsense_Mutation_p.K453*	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	453					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATTCCTCACTTGTGTATCTTG	0.478000													8	114					0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186359875	186359875	+	Silent	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:186359875A>G	ENST00000367470.3	+	7	743	c.507A>G	c.(505-507)caA>caG	p.Q169Q	C1orf27_ENST00000419367.3_Silent_p.Q137Q|C1orf27_ENST00000287859.6_Silent_p.Q169Q|C1orf27_ENST00000432021.3_Silent_p.Q169Q	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	169						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAAGTATCAAAGTGGATTAT	0.373000													27	34					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57215792	57215792	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr4:57215792C>G	ENST00000205214.6	-	11	2305	c.2125G>C	c.(2125-2127)Gac>Cac	p.D709H	AASDH_ENST00000502617.1_Missense_Mutation_p.D709H|AASDH_ENST00000513376.1_Missense_Mutation_p.D609H|AASDH_ENST00000602986.1_Missense_Mutation_p.D556H|AASDH_ENST00000434343.2_Missense_Mutation_p.D224H|AASDH_ENST00000451613.1_Missense_Mutation_p.D709H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	709					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAAACTGAGTCAGAAGGACAG	0.378000													4	81					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140553586	140553586	+	Silent	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr5:140553586C>T	ENST00000231137.3	+	1	1344	c.1170C>T	c.(1168-1170)ccC>ccT	p.P390P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATGTCCCCTTCATCCTGA	0.473000													8	63					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706034	92706034	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr15:92706034G>A	ENST00000318445.6	+	10	2016	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C601Y|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	601					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GACTCCACCTGCCTGTTCTGG	0.572000													4	90					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	199					0	0	1	0	0
FHL1	2273	broad.mit.edu	37	X	135288575	135288575	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:135288575G>T	ENST00000370683.1	+	2	372	c.32G>T	c.(31-33)aGc>aTc	p.S11I	FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000345434.3_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.S24I|FHL1_ENST00000394153.2_5'UTR|FHL1_ENST00000370676.3_Missense_Mutation_p.S11I|FHL1_ENST00000394155.2_5'UTR	NM_001159699.1	NP_001153171.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	0					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCCCTCCAGCTACAAGGTG	0.592000													14	251					3.41278e-10	3.77584e-10	1	1	0
SDHAP1	0	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	118					0	0	1	0	0
EXD2	0	broad.mit.edu	37	14	69707775	69707775	+	Silent	SNP	G	G	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr14:69707775G>C	ENST00000409014.1	+	11	2106	c.1449G>C	c.(1447-1449)ctG>ctC	p.L483L	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L483L|EXD2_ENST00000409675.1_Silent_p.L483L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409949.1_Silent_p.L483L|EXD2_ENST00000312994.5_Silent_p.L608L|EXD2_ENST00000409018.3_Silent_p.L608L|EXD2_ENST00000409242.1_Silent_p.L483L	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	483					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ATCAGAAGCTGCTCCGGAAAT	0.567000													3	61					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326713	61326713	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr18:61326713C>T	ENST00000283752.5	-	4	414	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB3_ENST00000332821.8_Missense_Mutation_p.E91K|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	91					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTGTTGAATTCAGTCAGAAGC	0.373000													13	151					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389																											TCTGGATAAATATGGAAGCGT	0.343000													3	94					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30297528	30297528	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr6:30297528A>G	ENST00000376659.5	+	3	1032	c.434A>G	c.(433-435)gAt>gGt	p.D145G	TRIM39_ENST00000396551.3_Missense_Mutation_p.D145G|TRIM39_ENST00000396547.1_Missense_Mutation_p.D145G|TRIM39_ENST00000396548.1_Missense_Mutation_p.D145G|TRIM39_ENST00000376656.4_Missense_Mutation_p.D145G|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.D57G|TRIM39_ENST00000540416.1_Missense_Mutation_p.D145G	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						CCACTGGACGATGCTACACAG	0.542000													7	67					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000													4	158					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113267520	113267520	+	Silent	SNP	T	T	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:113267520T>A	ENST00000297405.5	-	62	10243	c.9999A>T	c.(9997-9999)gcA>gcT	p.A3333A	CSMD3_ENST00000343508.3_Silent_p.A3293A|CSMD3_ENST00000352409.3_Silent_p.A3263A|CSMD3_ENST00000455883.2_Silent_p.A3164A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3333	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTGCCATCTGCTTGACATA	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			34	72					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75930351	75930351	+	Silent	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:75930351G>T	ENST00000377636.3	-	4	1553	c.1207C>A	c.(1207-1209)Cgg>Agg	p.R403R	TBC1D4_ENST00000377625.2_Silent_p.R403R|TBC1D4_ENST00000431480.2_Silent_p.R403R|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	403	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGAGACTCCCGGCAGATAAAG	0.413000													5	45					5.9392e-07	6.43413e-07	1	1	0
FMNL1	752	broad.mit.edu	37	17	43318854	43318854	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:43318854G>A	ENST00000331495.3	+	14	1774	c.1438G>A	c.(1438-1440)Gtg>Atg	p.V480M	FMNL1_ENST00000587489.1_Missense_Mutation_p.V58M|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.V480M	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	480	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGAGCTGAAGGTGGAGGAGCT	0.682000													3	4					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110857850	110857850	+	Silent	SNP	T	T	C			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:110857850T>C	ENST00000375820.4	-	16	1015	c.894A>G	c.(892-894)aaA>aaG	p.K298K	COL4A1_ENST00000543140.1_Silent_p.K298K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	298	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGGGACTCCCTTTTTCCCCTT	0.463000													4	308					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108128006	108128006	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:108128006G>T	ENST00000228437.5	-	12	2846	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	796					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCAGAAAGAGACTCATCCGC	0.378000													13	138					1.37285e-15	1.58641e-15	1	1	0
SREBF1	6720	broad.mit.edu	37	17	17721595	17721595	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr17:17721595G>A	ENST00000355815.4	-	7	1421	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	SREBF1_ENST00000261646.5_Missense_Mutation_p.R388C|SREBF1_ENST00000395757.1_Missense_Mutation_p.R134C|SREBF1_ENST00000338854.5_Missense_Mutation_p.R388C|SREBF1_ENST00000435530.2_Missense_Mutation_p.R388C	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	388	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						ACAGCAGTGCGCAGACTTAGG	0.542000													4	121					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42701681	42701681	+	Missense_Mutation	SNP	G	G	A	rs150403121		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr13:42701681G>A	ENST00000337343.4	+	2	296	c.275G>A	c.(274-276)cGc>cAc	p.R92H	DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.R92H|DGKH_ENST00000540693.1_Missense_Mutation_p.R92H	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	92	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTTCGAGGCCGCACCCTTTAC	0.418000													3	69					0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562000													3	60					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309074	61309074	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr18:61309074C>T	ENST00000341074.5	-	4	386	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E91K	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTGTTGAATTCAGTCAGAAGC	0.383000													41	115					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103496733	103496733	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:103496733C>A	ENST00000358392.2	-	5	1036	c.719G>T	c.(718-720)aGt>aTt	p.S240I	COL11A1_ENST00000512756.1_Missense_Mutation_p.S240I|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240I|COL11A1_ENST00000370096.3_Missense_Mutation_p.S240I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	240	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACAGTCTGGACTATAATGCTC	0.453000													5	34					0.00307968	0.00326823	1	1	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													4	74					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	49					0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75902108	75902108	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:75902108C>A	ENST00000229214.4	-	2	227	c.204G>T	c.(202-204)agG>agT	p.R68S	KRR1_ENST00000438169.2_Missense_Mutation_p.R68S	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	68					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AGTAAGCTTCCCTGTATTTTG	0.413000													13	60					1.5739e-10	1.77919e-10	1	1	0
MAMDC4	158056	broad.mit.edu	37	9	139751442	139751442	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:139751442G>A	ENST00000445819.1	+	18	2208	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T	MAMDC4_ENST00000317446.2_Missense_Mutation_p.A641T|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	720	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGTGCCAGCAGCACCCACGGA	0.687000													3	62					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			83	128					9.34078e-37	1.10391e-36	1	1	0
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-	rs143592003		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)cgg>c	p.HR729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.640													7	103	---	---	---	---					
LINC00698	0	broad.mit.edu	37	3	63082085	63082085	+	RNA	DEL	G	G	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr3:63082085delG	ENST00000468072.1	+	0	125					NR_027104.1																						TCGGACACCAGCTTCCCATCG	0.637													4	9	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													7	146	---	---	---	---					
AKAP2	11217	broad.mit.edu	37	9	112811016	112811033	+	In_Frame_Del	DEL	CCCCCGGAGTCTCCTGGA	CCCCCGGAGTCTCCTGGA	-	rs72207945		TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA	ENST00000374525.1	+	1	41_58	c.37_54delCCCCCGGAGTCTCCTGGA	c.(37-54)del	p.PPESPG19del	AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del	NM_001004065.4	NP_001004065.2			A kinase (PRKA) anchor protein 2											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT	0.789													3	5	---	---	---	---					
PZP	5858	broad.mit.edu	37	12	9322170	9322173	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:9322170_9322173delAGTT	ENST00000261336.2	-	16	1882_1885	c.1854_1857delAACT	c.(1852-1857)ctfs	p.LT618fs	PZP_ENST00000381997.2_Frame_Shift_Del_p.LT487fs	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATCCTTCACAGTTAGCAGATTAT	0.397													10	61	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FY-A3R9-01A-11D-A21Z-08	TCGA-FY-A3R9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cef90ac4-d4c5-4753-80e8-712e3100edba	cee94f7e-8203-4b02-aebb-507bd48f890e	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													8	233	---	---	---	---