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
RP11-793H13.10	0	broad.mit.edu	37	12	53900854	53900854	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:53900854C>T	ENST00000591834.1	-	12	1356	c.1307G>A	c.(1306-1308)gGc>gAc	p.G436D	NPFF_ENST00000267017.3_Missense_Mutation_p.A59T																							CTCTCCATTGCCTGGAGCAGG	0.607000													4	220					0	0	1	0	0
C9orf114	51490	broad.mit.edu	37	9	131591140	131591140	+	Splice_Site	SNP	C	C	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:131591140C>A	ENST00000361256.5	-	3	123		c.e3-1			NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114											kidney(2)|large_intestine(4)|ovary(1)	7						TCCTCTTTCTCTGGATAAAAG	0.522000													8	567					0.0381472	0.038434	1	1	0
GRM2	2912	broad.mit.edu	37	3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	rs144180122	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:51743211G>A	ENST00000395052.3	+	2	446	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R71H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	71					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCACTGGACCGCATCAACCGT	0.632000													6	581					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs117285325	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr15:78290635C>T	ENST00000409931.3	-	13	2778	c.2707G>A	c.(2707-2709)Gac>Aac	p.D903N	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	0						intracellular	protein binding|Rab GTPase activator activity	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617000													6	62					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515257	102515257	+	RNA	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr15:102515257C>T	ENST00000557932.1	+	0	1103																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCCGGTGGCCGGGCCACTCT	0.647000													9	505					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													4	184					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29855904	29855904	+	Silent	SNP	C	C	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr16:29855904C>A	ENST00000357402.5	+	11	1863	c.1725C>A	c.(1723-1725)atC>atA	p.I575I	MVP_ENST00000395353.1_Silent_p.I575I	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	575					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCAAAGCCATCGCATCCCGGG	0.552000													5	553					0.000602214	0.000616006	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	54					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101552411	101552411	+	Silent	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:101552411C>T	ENST00000353234.4	-	2	884	c.837G>A	c.(835-837)ccG>ccA	p.P279P	ANKS6_ENST00000375018.1_Silent_p.P279P|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_Silent_p.P84P|ANKS6_ENST00000471846.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	279										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CGGTGGTCAGCGGGTCCAGGT	0.587000													6	372					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135975735	135975735	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:135975735C>T	ENST00000393160.3	-	17	2677	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	RALGDS_ENST00000372062.3_Missense_Mutation_p.R801H|RALGDS_ENST00000372047.3_Missense_Mutation_p.R818H|RALGDS_ENST00000393157.3_Missense_Mutation_p.R829H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.R901H|RALGDS_ENST00000372050.3_Missense_Mutation_p.R830H	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	830					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CATGGCCTTGCGGATTACAGC	0.592000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								6	720					0	0	1	0	0
GPR42	2866	broad.mit.edu	37	19	35863074	35863074	+	Silent	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:35863074C>T	ENST00000454971.1	+	2	1014	c.813C>T	c.(811-813)gtC>gtT	p.V271V	GPR42_ENST00000597214.1_Silent_p.V271V					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACTCCTGTGTCGACCCCTTTG	0.582000													7	439					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338650	5338650	+	Missense_Mutation	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:5338650A>G	ENST00000396872.2	+	8	1075	c.914A>G	c.(913-915)gAg>gGg	p.E305G	SLC29A4_ENST00000297195.4_Missense_Mutation_p.E305G|SLC29A4_ENST00000406453.3_Missense_Mutation_p.E291G	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	305					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCCCAACGAGTCCCCAAAG	0.692000													7	142					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													6	285					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													21	406					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511322	61511322	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:61511322C>T	ENST00000266070.4	-	16	6311	c.5986G>A	c.(5986-5988)Gca>Aca	p.A1996T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1996	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)					GAAAAGGGTGCGGACCCCCGT	0.597000													7	971					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202537	6202537	+	Silent	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:6202537G>A	ENST00000262450.3	-	14	2271	c.2172C>T	c.(2170-2172)gcC>gcT	p.A724A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	724	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCATCTCATCGGCCAGGATGG	0.647000													5	210					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	215					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134393890	134393890	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:134393890G>A	ENST00000423007.1	+	14	1773	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	POMT1_ENST00000372228.3_Missense_Mutation_p.R466H|POMT1_ENST00000419118.2_Missense_Mutation_p.R292H|POMT1_ENST00000541219.1_Missense_Mutation_p.R222H|POMT1_ENST00000354713.4_Missense_Mutation_p.R414H|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.R444H|POMT1_ENST00000404875.2_Missense_Mutation_p.R327H|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000341012.7_Missense_Mutation_p.R390H	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	466	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TCAGAGGTCCGCTTTGTGCAC	0.493000													8	1172					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464666	25464666	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:25464666C>T	ENST00000376351.3	+	1	676	c.317C>T	c.(316-318)gCg>gTg	p.A106V	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	106						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TACGAGTTGGCGGGCCTGCCG	0.667000													5	265					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063736	59063736	+	Missense_Mutation	SNP	G	G	A	rs146786448		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:59063736G>A	ENST00000600118.1	-	2	663	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W|CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	80	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGTTGGCCCGCATCAATACA	0.537000													6	533					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5140323	5140323	+	Silent	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr16:5140323A>G	ENST00000427587.4	-	6	572	c.504T>C	c.(502-504)gcT>gcC	p.A168A	FAM86A_ENST00000587133.1_Silent_p.A107A|FAM86A_ENST00000458008.4_Silent_p.A134A	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	168										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CTGTGAGGCCAGCACCACTGC	0.657000													6	222					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	323	DUF6 2.					integral to membrane		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547000													6	298					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654964	99654964	+	Missense_Mutation	SNP	G	G	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:99654964G>T	ENST00000292450.4	+	2	499	c.335G>T	c.(334-336)aGc>aTc	p.S112I	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.S112I|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.S112I|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	112	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGCCCGGAGAGCGCTGAAGAG	0.587000													6	300					0.00198382	0.00201388	1	1	0
LIMA1	51474	broad.mit.edu	37	12	50571413	50571413	+	Missense_Mutation	SNP	C	C	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:50571413C>A	ENST00000547825.1	-	5	2077	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	LIMA1_ENST00000552491.1_Missense_Mutation_p.D269Y|LIMA1_ENST00000552783.1_Missense_Mutation_p.D413Y|LIMA1_ENST00000552823.1_Missense_Mutation_p.D412Y|LIMA1_ENST00000552909.1_Missense_Mutation_p.D411Y|LIMA1_ENST00000341247.4_Missense_Mutation_p.D572Y|LIMA1_ENST00000394943.3_Missense_Mutation_p.D573Y	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	572					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGATCTAGATCGACATCCTCA	0.483000													10	523					6.40141e-05	6.75424e-05	1	1	0
SON	6651	broad.mit.edu	37	21	34923934	34923934	+	Silent	SNP	T	T	C	rs142825273	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr21:34923934T>C	ENST00000356577.4	+	3	2872	c.2397T>C	c.(2395-2397)agT>agC	p.S799S	SON_ENST00000381679.4_Silent_p.S799S|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.S799S|SON_ENST00000300278.4_Silent_p.S799S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	799	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.S799S(4)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAGCAACCAGTTCCATGGACT	0.507000													7	901					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790026	248790026	+	Missense_Mutation	SNP	C	C	T	rs150548690		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:248790026C>T	ENST00000330803.2	-	1	465	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACTTCTTGCGGTTCATCAG	0.547000													5	254					0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110103968	110103968	+	Silent	SNP	T	T	C			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:110103968T>C	ENST00000343115.4	-	13	1900	c.1581A>G	c.(1579-1581)caA>caG	p.Q527Q	RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Silent_p.Q391Q|RDX_ENST00000528498.1_Silent_p.Q527Q|RDX_ENST00000405097.1_Silent_p.Q527Q|RDX_ENST00000528900.1_Silent_p.Q180Q	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	527					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		ATACCTGAAGTTGCTTCTTAA	0.338000													9	488					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													5	177					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													6	330					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	232					0	0	1	0	0
GLUD1P2	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													16	110					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752097	36752097	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:36752097G>A	ENST00000354618.5	+	4	490	c.266G>A	c.(265-267)cGt>cAt	p.R89H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R89H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	89	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCCGTGGGCGTAACAGAGGC	0.478000			T	USP6	aneurysmal bone cysts								6	386					0	0	1	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	rs138454470	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCACGGCCGGAGCCA	0.687000													9	283					0	0	1	0	0
IPPK	64768	broad.mit.edu	37	9	95378166	95378166	+	Missense_Mutation	SNP	G	G	A	rs145881935		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:95378166G>A	ENST00000287996.3	-	13	1700	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	IPPK_ENST00000486841.1_5'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.S147L|CENPP_ENST00000375587.3_3'UTR	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	475					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GAACCGAGTCGACATCACGGC	0.453000													5	260					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								7	230					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr21:34923961C>T	ENST00000356577.4	+	3	2899	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.T808T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.512000													10	956					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:39274343A>G	ENST00000391413.2	-	1	263	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657000													5	256					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	181					0.00024832	0.000257945	1	1	0
TMC4	147798	broad.mit.edu	37	19	54668257	54668257	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:54668257G>A	ENST00000376591.4	-	7	1173	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	TMC4_ENST00000301187.4_Missense_Mutation_p.R342W	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	348						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCAGCACCCGCACCAACCAA	0.682000													7	663					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													5	59					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs71299249	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:1389323G>A	ENST00000324803.4	+	1	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	342					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667000													9	1155					0	0	1	0	0
PCDHB13	0	broad.mit.edu	37	5	140595249	140595249	+	Silent	SNP	T	T	C	rs144959109	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:140595249T>C	ENST00000341948.4	+	1	1741	c.1554T>C	c.(1552-1554)tcT>tcC	p.S518S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		518	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S518S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCAGGTCTCTGGACTACG	0.692000													5	580					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117707943	117707943	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:117707943C>T	ENST00000276204.6	+	12	1425	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	DOCK11_ENST00000276202.7_Missense_Mutation_p.H451Y			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	451					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATCTTACATTCATGGAATTGC	0.453000													5	402					0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145753118	145753118	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr8:145753118G>A	ENST00000524821.1	-	3	474	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	C8orf82_ENST00000313465.5_3'UTR			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	87										endometrium(1)|urinary_tract(1)	2						GCCTCGTAGCGCCCGCTGCGG	0.682000													3	46					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106721288	106721288	+	Silent	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:106721288G>A	ENST00000283148.7	-	11	982	c.885C>T	c.(883-885)taC>taT	p.Y295Y	UXS1_ENST00000409501.3_Silent_p.Y290Y|UXS1_ENST00000540130.1_Silent_p.Y233Y|UXS1_ENST00000428048.2_Silent_p.Y134Y|UXS1_ENST00000409032.1_Silent_p.Y122Y	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	290					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ACCCGGATCCGTATACCTGGA	0.552000											OREG0014864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	508					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:82784471A>G	ENST00000423517.2	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	442	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607000													16	732					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	277					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50678363	50678363	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:50678363C>T	ENST00000355832.5	-	18	3721	c.3643G>A	c.(3643-3645)Gcc>Acc	p.A1215T	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.A585T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1215					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAAACTTGGCGTCTCTGCAA	0.443000								Direct reversal of damage;Nucleotide excision repair (NER)					6	1035					0	0	1	0	0
ZNF195	0	broad.mit.edu	37	11	3381273	3381273	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:3381273G>A	ENST00000354599.6	-	4	853	c.749C>T	c.(748-750)gCc>gTc	p.A250V	ZNF195_ENST00000526601.1_Missense_Mutation_p.A303V|ZNF195_ENST00000005082.9_Missense_Mutation_p.A299V|ZNF195_ENST00000343338.7_Missense_Mutation_p.A254V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.A254V|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000399602.4_Missense_Mutation_p.A322V	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTCCCCTCCGGCATAAATTCT	0.398000													5	509					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200063	128200063	+	Silent	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:128200063G>A	ENST00000341105.2	-	6	1573	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.F414F|GATA2_ENST00000430265.2_Silent_p.F400F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	414					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		ACAGCTCCTCGAAGCACTCCG	0.577000			Mis		AML(CML blast transformation)								7	370					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													5	259					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207422163	207422163	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:207422163C>T	ENST00000264377.3	+	10	1274	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	ADAM23_ENST00000374415.3_Missense_Mutation_p.R316C|ADAM23_ENST00000374416.1_Missense_Mutation_p.R316C	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	316	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TAAGAAGCATCGCTCTTCTCA	0.378000													9	603					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753771	48753771	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:48753771G>A	ENST00000285238.8	+	23	3280	c.3200G>A	c.(3199-3201)cGc>cAc	p.R1067H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1067	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCATCAGGCCGCATCCTGAAC	0.557000													6	768					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106639104	106639104	+	Missense_Mutation	SNP	A	A	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:106639104A>T	ENST00000515279.1	+	2	554	c.334A>T	c.(334-336)Ata>Tta	p.I112L	GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.I112L|GSTCD_ENST00000394728.3_Missense_Mutation_p.I112L|GSTCD_ENST00000507281.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	112						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		ATTGAGACACATAATCCAGAA	0.418000													6	448					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510917	61510917	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:61510917G>A	ENST00000266070.4	-	16	6716	c.6391C>T	c.(6391-6393)Cgg>Tgg	p.R2131W	DIDO1_ENST00000395343.1_Missense_Mutation_p.R2131W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2131	Arg-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)					tcccggggccggtcccagtcc	0.731000													4	270					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:170198095G>A	ENST00000231706.4	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659						integral to membrane	amino acid transmembrane transporter activity	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498000													5	406					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													5	166					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716000													8	54					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86297307	86297307	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:86297307C>T	ENST00000263857.6	-	13	2078	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R567H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	567					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGCAGGATGCGGGCACGGTG	0.572000													4	173					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99799476	99799476	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:99799476C>T	ENST00000426455.1	+	22	2695	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.S763L|STAG3_ENST00000394018.2_Missense_Mutation_p.S705L|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA			Q9UJ98	STAG3_HUMAN	stromal antigen 3	763					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTTCTAAATCAGATGCTTCC	0.448000													11	519					0	0	1	0	0
CSAG4	0	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													12	523					1.5739e-10	1.68722e-10	1	1	0
TRBV6-8	0	broad.mit.edu	37	7	142124389	142124389	+	RNA	SNP	T	T	C			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:142124389T>C	ENST00000390376.2	-	0	88																											CTTCAGGATGTGGAATTTTGG	0.522000													6	347					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A	rs558823		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493000													9	760					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													5	375					0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41856430	41856430	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr22:41856430C>T	ENST00000216252.3	-	4	376	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	102					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GTATTTTTTGCGTTCATAGAA	0.488000													7	594					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30656770	30656770	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:30656770G>A	ENST00000389266.3	+	10	1476	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	412					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.R412H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TTCATTGGCCGCATCTACCTC	0.433000													6	441					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186050343	186050343	+	Silent	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				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						TGTTAGTGCCGCCAATTATCA	0.423000													6	831					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373000													7	163					0.000157383	0.000164761	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114269985	114269985	+	Silent	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:114269985A>G	ENST00000393500.3	+	11	1117	c.297A>G	c.(295-297)caA>caG	p.Q99Q	FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q			O15409	FOXP2_HUMAN	forkhead box P2	174	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q199Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacaacagcagcaac	0.502000													4	195					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	312	DUF6 2.					integral to membrane		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567000													6	415					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245504	59245504	+	Missense_Mutation	SNP	C	C	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:59245504C>G	ENST00000530162.1	+	1	659	c.602C>G	c.(601-603)tCc>tGc	p.S201C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTAATGATTTCCAACAATGGA	0.468000													4	333					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274214	39274214	+	Missense_Mutation	SNP	G	G	C			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:39274214G>C	ENST00000391413.2	-	1	392	c.354C>G	c.(352-354)agC>agG	p.S118R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtctgcagcagctggacacac	0.652000													6	169					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:53855452A>G	ENST00000458035.1	+	4	1641	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000595091.1_Silent_p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388000													5	182					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													5	207					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33639869	33639869	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:33639869G>A	ENST00000374316.5	+	23	3852	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R931H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	931					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGCTGAGCCGCAAGCAGTCC	0.612000													5	225					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887343	155887343	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:155887343G>A	ENST00000368320.3	-	11	1412	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.R463*			Q7Z7F0	K0907_HUMAN	KIAA0907	463										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCTGTGAATCGTCTCTTCTGT	0.532000													6	555					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404642	179404642	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:179404642C>T	ENST00000589042.1	-	352	98374	c.98150G>A	c.(98149-98151)aGg>aAg	p.R32717K	TTN_ENST00000591111.1_Missense_Mutation_p.R31076K|TTN_ENST00000342992.6_Missense_Mutation_p.R30149K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23844K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23777K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23652K|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31076							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R30147K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCACCTTGCCTTACAAAGAT	0.408000													5	482					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229722	7229722	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:7229722G>A	ENST00000379938.2	+	10	1927	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	RREB1_ENST00000334984.6_Missense_Mutation_p.A464T|RREB1_ENST00000379933.3_Missense_Mutation_p.A464T|RREB1_ENST00000349384.6_Missense_Mutation_p.A464T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	464					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGGCGAGTCGGCCATCGAGCT	0.597000													5	575					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													6	412					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37001175	37001175	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:37001175C>T	ENST00000282516.8	+	14	4158	c.3659C>T	c.(3658-3660)gCg>gTg	p.A1220V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1220V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1220					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.A1220V(4)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATTTTACTGCGTTTGGTAAA	0.333000													10	428					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135389698	135389698	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:135389698C>T	ENST00000442011.2	+	9	1354	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	TGFBI_ENST00000305126.8_Missense_Mutation_p.A398V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	398	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCAGACAAGCCGGCCTCGGC	0.483000													7	489					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54591315	54591315	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr18:54591315C>T	ENST00000254442.3	+	22	3900	c.3689C>T	c.(3688-3690)gCc>gTc	p.A1230V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1230										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAACTTTGTGCCGATGCCGAG	0.438000													6	537					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													21	505					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	169					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869336	174869336	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:174869336G>A	ENST00000393752.2	-	2	1759	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	256					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.P256L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGAACTTTCCGGTTGAGAACA	0.478000													7	285					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													9	169					0	0	1	0	0
C17orf102	400591	broad.mit.edu	37	17	32905983	32905983	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:32905983G>A	ENST00000357754.1	-	1	405	c.317C>T	c.(316-318)gCg>gTg	p.A106V		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	106										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GACCCATCCCGCACGAAGCTG	0.632000													6	543					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532000													7	1385					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131199279	131199279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:131199279G>A	ENST00000337057.3	-	14	2189	c.2008C>T	c.(2008-2010)Cga>Tga	p.R670*	EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530757.1_Nonsense_Mutation_p.R69*|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.R670*|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.R48*|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	670	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GTGATACGTCGTTTTTCCCAT	0.443000													7	319					0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468000													6	938					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498000													9	813					0.000274275	0.000282714	1	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													8	324					0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5974198	5974198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:5974198C>T	ENST00000378896.3	+	18	2664	c.2287C>T	c.(2287-2289)Cga>Tga	p.R763*	MCM8_ENST00000265187.4_Nonsense_Mutation_p.R747*|MCM8_ENST00000378883.1_Nonsense_Mutation_p.R716*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.R803*	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	763					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGATTTTGAGCGATCCCAGCA	0.363000													5	455					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604777	90604777	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:90604777C>T	ENST00000369352.1	+	1	590	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	197					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TGCCCCAATGCGGTGGATTGC	0.423000													7	871					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76111993	76111993	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:76111993C>T	ENST00000324432.5	+	5	947	c.437C>T	c.(436-438)gCc>gTc	p.A146V	DTX2_ENST00000446820.2_Missense_Mutation_p.A146V|DTX2_ENST00000430490.2_Missense_Mutation_p.A146V|DTX2_ENST00000413936.2_Missense_Mutation_p.A146V|DTX2_ENST00000446600.1_Missense_Mutation_p.A55V|DTX2_ENST00000307569.8_Missense_Mutation_p.A146V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	146	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTGGACTTGGCCCCCCTGGGG	0.627000													4	150					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1499945	1499945	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:1499945G>A	ENST00000331035.4	+	11	1359	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	IL3RA_ENST00000381469.2_Missense_Mutation_p.R259H	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	337						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCTTTCCCCGCATCCCTCAC	0.542000													8	1347					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385626	33385626	+	Missense_Mutation	SNP	G	G	A	rs149760238	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:33385626G>A	ENST00000537089.1	-	6	806	c.488C>T	c.(487-489)cCa>cTa	p.P163L	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.P255L|AQP7_ENST00000541274.1_Silent_p.P123P			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		TCAAAGGAATGGGCCTGGGCA	0.622000													5	355					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584253	138584253	+	Missense_Mutation	SNP	A	A	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:138584253A>G	ENST00000251691.4	+	12	1799	c.1633A>G	c.(1633-1635)Aag>Gag	p.K545E		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	545					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCCAGAGGGTAAGGAGACGCT	0.547000													6	147					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647000													5	312					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766225	43766225	+	Missense_Mutation	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:43766225G>A	ENST00000244293.7	-	3	562	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.R166C|PSG9_ENST00000270077.3_Missense_Mutation_p.R166C|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	166	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CAGATTAAGCGCACAGCCTCC	0.532000													6	904					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6537680	6537680	+	Silent	SNP	C	C	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:6537680C>T	ENST00000377748.1	-	3	680	c.183G>A	c.(181-183)cgG>cgA	p.R61R	PLEKHG5_ENST00000535355.1_Silent_p.R53R|PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000537245.1_Silent_p.R63R|PLEKHG5_ENST00000400913.1_5'UTR|PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000340850.5_5'UTR|PLEKHG5_ENST00000400915.3_Silent_p.R40R|PLEKHG5_ENST00000377732.1_Silent_p.R21R|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000377740.3_Silent_p.R61R|PLEKHG5_ENST00000377728.3_5'UTR	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	40					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGGGGCCCCCGGCGGTGCA	0.632000													7	377					0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56704996	56704996	+	Splice_Site	SNP	G	G	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:56704996G>A	ENST00000273308.4	-	4	947	c.408_splice	c.e4+1	p.A136_splice	RP11-977G19.10_ENST00000549318.1_Splice_Site_p.A136_splice|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	136	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						ATAGCTCACCGCAAACTTGAG	0.483000													6	842					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	169					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													7	60					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttc>t	p.FI89del	VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	89					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													7	554	---	---	---	---					
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gaaafs	p.EK24fs	RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	24					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505													12	666	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													7	442	---	---	---	---					
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:38078467_38078469delTGC	ENST00000356545.2	-	8	1537_1539	c.750_752delGCA	c.(748-753)caa>ca	p.QQ250del	RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621													8	641	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39788668	39788670	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:39788668_39788670delGGA	ENST00000564288.1	+	33	5001_5003	c.4224_4226delGGA	c.(4222-4227)ctg>ct	p.LE1408del	MACF1_ENST00000317713.7_In_Frame_Del_p.LE1413del|MACF1_ENST00000539005.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000545844.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000567887.1_In_Frame_Del_p.LE1445del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_In_Frame_Del_p.LE1413del|MACF1_ENST00000372915.3_In_Frame_Del_p.LE1413del			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1413					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCGGCGTCTGGAGGAGGAGGAG	0.493													8	510	---	---	---	---					
TNNI3K	51086	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCTCTCACCTTCTTCTTCTTC	0.473													12	797	---	---	---	---					
CCDC18	343099	broad.mit.edu	37	1	93667515	93667516	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:93667515_93667516insA	ENST00000343253.7	+	7	1267_1268	c.765_766insA	c.(763-768)taaaaafs	p.*K255fs	CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.*K373fs|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.*K54fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.*K255fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	255								p.V377fs*15(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCCAACAATATAAAAAAAAAGT	0.317													7	229	---	---	---	---					
KCND3	3752	broad.mit.edu	37	1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:112524444_112524445insG	ENST00000369697.1	-	1	973_974	c.904_905insC	c.(904-906)ccafs	p.P302fs	KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGGGAGTGGCGGGAAAACTTG	0.579													7	327	---	---	---	---					
ANKRD20A12P	0	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													10	417	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				11	382	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:154680586_154680588delGCT	ENST00000271915.3	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)ctc>c	p.QL687del	KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													12	560	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:204438072delG	ENST00000367187.3	-	3	1415	c.859delC	c.(859-861)gcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622													7	530	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:226026384delC	ENST00000366837.4	+	4	590	c.394delC	c.(394-396)ccfs	p.P133fs	EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	133					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627													7	693	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													15	743	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	251	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)aaafs	p.K700fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307													8	719	---	---	---	---					
WDR33	55339	broad.mit.edu	37	2	128476956	128476956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:128476956delG	ENST00000322313.4	-	16	2801	c.2643delC	c.(2641-2643)ccfs	p.P881fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	881					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTGAGGTCCGGGGGGTCCTT	0.627													7	489	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148657040	148657041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:148657040_148657041insA	ENST00000241416.7	+	3	913_914	c.277_278insA	c.(277-279)aaafs	p.K93fs	ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGATTGTGTAGAAAAAAAAGAC	0.302													11	405	---	---	---	---					
PDCD6IP	10015	broad.mit.edu	37	3	33866811	33866811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:33866811delT	ENST00000307296.3	+	5	972	c.595delT	c.(595-597)ttfs	p.F200fs	PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	200	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAAGAAGTATTTTTTTTAAA	0.368													9	486	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													12	352	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)atc>a	p.TI23del	PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													7	1163	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26417145	26417146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:26417145_26417146insA	ENST00000342320.4	+	4	377_378	c.201_202insA	c.(199-204)aaaaaafs	p.KK67fs	RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	81					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGATGGAAGAAAAAAAAAGA	0.371													13	567	---	---	---	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggafs	p.RR421fs	LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													10	544	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)del	p.Q760del	CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													7	226	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)ccg>c	p.QP650del	MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	646	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586													8	210	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:186515044delC	ENST00000431808.1	-	20	3693	c.3130delG	c.(3130-3132)aafs	p.E1044fs	SORBS2_ENST00000448662.2_Frame_Shift_Del_p.E605fs|SORBS2_ENST00000355634.5_Frame_Shift_Del_p.E1144fs|SORBS2_ENST00000437304.2_Frame_Shift_Del_p.E768fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.E948fs|SORBS2_ENST00000319471.9_Frame_Shift_Del_p.E675fs|SORBS2_ENST00000284776.7_Frame_Shift_Del_p.E1044fs|SORBS2_ENST00000393528.3_Frame_Shift_Del_p.E610fs|SORBS2_ENST00000449407.2_Frame_Shift_Del_p.E588fs			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACTTACGGTTCCCCCCCACCT	0.358													10	704	---	---	---	---					
PCDHB13	0	broad.mit.edu	37	5	140595172	140595172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:140595172delC	ENST00000341948.4	+	1	1664	c.1477delC	c.(1477-1479)ccfs	p.P493fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		493	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGCCGCCCCAGGACCC	0.667													7	713	---	---	---	---					
TCERG1	10915	broad.mit.edu	37	5	145886722	145886723	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:145886722_145886723insA	ENST00000296702.5	+	19	2900_2901	c.2862_2863insA	c.(2860-2865)acaaaafs	p.TK954fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.TK933fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	954					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCACTTACCAAAAAAAAGAG	0.376													9	504	---	---	---	---					
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:25921520delT	ENST00000377850.3	-	4	885	c.361delA	c.(361-363)tgfs	p.M121fs	SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453													9	363	---	---	---	---					
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)del	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631													8	127	---	---	---	---					
CD2AP	23607	broad.mit.edu	37	6	47576961	47576961	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:47576961delA	ENST00000359314.5	+	16	2191	c.1735delA	c.(1735-1737)aafs	p.K580fs	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	580					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGATGATGTGAAAAAAAATTC	0.388													7	444	---	---	---	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agt>ag	p.SS745del	EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000528282.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													8	335	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120					NR_002164.1																						CGTTCTACCAgtttttttttgt	0.441													9	419	---	---	---	---					
CDK5	1020	broad.mit.edu	37	7	150754217	150754217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:150754217delT	ENST00000485972.1	-	2	749	c.68delA	c.(67-69)acfs	p.N23fs	CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	23	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGTCTCCCGGTTTTTGGCCTT	0.582													7	940	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													11	598	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	145006627	145006629	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr8:145006627_145006629delCCT	ENST00000322810.4	-	16	2496_2498	c.2327_2329delAGG	c.(2326-2331)gtg>g	p.EV776del	PLEC_ENST00000356346.3_In_Frame_Del_p.EV625del|PLEC_ENST00000357649.2_In_Frame_Del_p.EV643del|PLEC_ENST00000345136.3_In_Frame_Del_p.EV639del|PLEC_ENST00000354958.2_In_Frame_Del_p.EV617del|PLEC_ENST00000354589.3_In_Frame_Del_p.EV639del|PLEC_ENST00000436759.2_In_Frame_Del_p.EV666del|PLEC_ENST00000398774.2_In_Frame_Del_p.EV607del|PLEC_ENST00000527096.1_In_Frame_Del_p.EV662del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	776	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGAAGCCCACCTCCTCCTCCTC	0.621													7	640	---	---	---	---					
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													11	413	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaa>ga	p.EE916del	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645													7	465	---	---	---	---					
MIRLET7DHG	0	broad.mit.edu	37	9	96941099	96941100	+	RNA	INS	-	-	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:96941099_96941100insA	ENST00000416309.2	-	0	164				RP11-2B6.3_ENST00000602703.1_lincRNA	NR_046163.1																						AGACCAGCAAGAAAAAAAAAAT	0.376													8	224	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													16	52	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													13	253	---	---	---	---					
WDR5	11091	broad.mit.edu	37	9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:137019598delC	ENST00000358625.3	+	10	813	c.642delC	c.(640-642)aafs	p.N214fs	WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ATGACGACAACCCCCCCGTGT	0.627													8	1734	---	---	---	---					
AGAP7	653268	broad.mit.edu	37	10	51465346	51465346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:51465346delG	ENST00000374095.5	-	7	1235	c.1110delC	c.(1108-1110)ccfs	p.P370fs		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	370	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CATGAGGAGAGGGGGGCGGGT	0.527													7	572	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64952699	64952699	+	Splice_Site	DEL	T	T	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:64952699delT	ENST00000399262.2	-	16	6293	c.6076_splice	c.e16+1	p.K2025_splice	JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2025					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATGTTTACCTTTTTTTTCCT	0.373													7	376	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)del	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													10	451	---	---	---	---					
OVCH2	341277	broad.mit.edu	37	11	7720159	7720160	+	RNA	INS	-	-	T	rs71470493	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:7720159_7720160insT	ENST00000454689.1	-	0	925				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GGCATAATGGCTGTAGGTGCTC	0.475													7	4	---	---	---	---					
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:47359101_47359103delTCT	ENST00000399249.2	-	24	2495_2497	c.2441_2443delAGA	c.(2440-2445)agc>a	p.KS814del	MYBPC3_ENST00000545968.1_In_Frame_Del_p.KS814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	813	Fibronectin type-III 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601													7	307	---	---	---	---					
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcfs	p.S269fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313													16	190	---	---	---	---					
CTD-2313N18.8	0	broad.mit.edu	37	11	71574635	71574635	+	RNA	DEL	A	A	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:71574635delA	ENST00000528518.1	+	0	168																											GTAATGAAGGAAAAAAATGTA	0.428													7	960	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs34562444		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.230													7	10	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								9	334	---	---	---	---					
IFT46	56912	broad.mit.edu	37	11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:118427645_118427647delTCA	ENST00000264020.2	-	5	689_691	c.312_314delTGA	c.(310-315)gaa>ga	p.DE104del	IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	53					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473													8	969	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G	rs140619532	by1000genomes	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2331)ggcfs	p.G777fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	777	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													7	156	---	---	---	---					
FOXJ2	55810	broad.mit.edu	37	12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)del	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.640													10	155	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													8	1124	---	---	---	---					
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)ttfs	p.F278fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													7	322	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:29450110delA	ENST00000182377.4	+	4	790	c.522delA	c.(520-522)ccfs	p.P174fs	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													17	433	---	---	---	---					
KIAA1551	55196	broad.mit.edu	37	12	32134718	32134720	+	In_Frame_Del	DEL	CCT	CCT	-	rs79406084	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:32134718_32134720delCCT	ENST00000312561.4	+	4	1243_1245	c.829_831delCCT	c.(829-831)del	p.P281del	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TGACAAAAGACCTCCTCCTCCTC	0.414													9	516	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aggfs	p.R1033fs	MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													16	535	---	---	---	---					
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)ttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443													9	373	---	---	---	---					
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aafs	p.K917fs	ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	225	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25232008	25232015	+	RNA	DEL	CGTGTGTG	CGTGTGTG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr15:25232008_25232015delCGTGTGTG	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						cgtgtgtgcacgtgtgtgcgtgtgtgca	0.433													9	101	---	---	---	---					
BUB1B	701	broad.mit.edu	37	15	40512872	40512872	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr15:40512872delT	ENST00000287598.6	+	23	3260	c.3065delT	c.(3064-3066)gtfs	p.V1022fs	RP11-133K1.2_ENST00000558658.1_Intron|BUB1B_ENST00000412359.3_Frame_Shift_Del_p.V1036fs|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	1022	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATGAATGGGGTTTTTGACACT	0.448			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				7	846	---	---	---	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2055)tttfs	p.F685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361													8	366	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													8	347	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7751859	7751861	+	In_Frame_Del	DEL	CAC	CAC	-	rs59627144		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:7751859_7751861delCAC	ENST00000254846.5	+	11	2642_2644	c.2253_2255delCAC	c.(2251-2256)gtc>gt	p.VT751del	KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	751	Pro-rich.|Thr-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccacc	0.650													7	153	---	---	---	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)ccg>c	p.QP29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													8	261	---	---	---	---					
HOXB3	3213	broad.mit.edu	37	17	46629396	46629396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:46629396delG	ENST00000470495.1	-	1	1888	c.441delC	c.(439-441)ccfs	p.P147fs	HOXB3_ENST00000485909.2_Frame_Shift_Del_p.P15fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.P15fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.P147fs			P14651	HXB3_HUMAN	homeobox B3	147					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TACCTGTGCCGGGGGAGTTGT	0.572													7	1935	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													11	296	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)del	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													11	331	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atg>a	p.ML209del	SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	209						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													9	510	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													11	5	---	---	---	---					
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						extracellular region		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579													7	652	---	---	---	---					
ZNF570	148268	broad.mit.edu	37	19	37976034	37976034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:37976034delA	ENST00000330173.1	+	5	2039	c.1510delA	c.(1510-1512)aafs	p.K505fs	ZNF570_ENST00000586475.1_Frame_Shift_Del_p.K561fs|ZNF570_ENST00000388801.3_Frame_Shift_Del_p.K302fs	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGAATGCAAAAAAACCTT	0.448													7	300	---	---	---	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ccc>c	p.LP8del	SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													13	282	---	---	---	---					
GINS1	9837	broad.mit.edu	37	20	25422397	25422397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:25422397delA	ENST00000262460.4	+	6	601	c.507delA	c.(505-507)ttfs	p.L169fs	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	169					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAGTCCTATTAAAAAAAAATA	0.299													10	347	---	---	---	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:30898763_30898765delGAG	ENST00000375712.3	+	2	1350_1352	c.1183_1185delGAG	c.(1183-1185)del	p.E399del	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													7	193	---	---	---	---					
C22orf43	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gcc>g	p.DA171del		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433													8	277	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcc>g	p.AS489del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	489					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													13	472	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)del	p.E856del	CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													9	144	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:70360680_70360682delGCA	ENST00000333646.6	+	42	6448_6450	c.6249_6251delGCA	c.(6247-6252)cgg>cg	p.RQ2083del	MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2080	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	168	---	---	---	---					
TSIX	0	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													8	518	---	---	---	---					
XIST	0	broad.mit.edu	37	X	73072090	73072091	+	RNA	INS	-	-	A			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:73072090_73072091insA	ENST00000429829.1	-	0	497_498					NR_001564.2																						ATGGGCTAAGGAAAAAAAAATA	0.465													7	108	---	---	---	---					
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)act>a	p.ST50del	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586													7	209	---	---	---	---					
RNF128	79589	broad.mit.edu	37	X	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343													8	296	---	---	---	---					
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:119694117_119694119delGAG	ENST00000371322.5	-	1	436_438	c.375_377delCTC	c.(373-378)tca>tc	p.SS127del	CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	145	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488													12	291	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)del	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.567										HNSCC(15;0.026)			7	1512	---	---	---	---					
AFF2	2334	broad.mit.edu	37	X	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:147733548delA	ENST00000370460.2	+	2	555	c.76delA	c.(76-78)aafs	p.K27fs	AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	27					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGCACTTAAAAAAAGGGA	0.378													7	870	---	---	---	---					
HMGB3	3149	broad.mit.edu	37	X	150156358	150156360	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:150156358_150156360delGAG	ENST00000325307.7	+	5	670_672	c.574_576delGAG	c.(574-576)del	p.E198del	HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	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)					ggaggaagaagaggaggaggagg	0.443													7	431	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													13	555	---	---	---	---					
