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
LGSN	51557	broad.mit.edu	37	6	63990012	63990012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:63990012G>A	ENST00000370657.4	-	4	1477	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	482					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACAAAATATCGAATAAAGGTT	0.378000													8	280					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239821	155239821	+	Missense_Mutation	SNP	G	G	A	rs140822242	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:155239821G>A	ENST00000424344.3	+	10	1617	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S438N			Q01113	IL9R_HUMAN	interleukin 9 receptor	438					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcagcaacaacaac	0.642000													5	100					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													5	243					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186456969	186456969	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:186456969G>A	ENST00000265023.4	+	8	1224	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.E338K|KNG1_ENST00000447445.1_Missense_Mutation_p.E302K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	338	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGAGTTGACCGAAAGCTGTGA	0.383000													4	125					0	0	1	0	0
GTSF1	121355	broad.mit.edu	37	12	54858949	54858949	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:54858949C>T	ENST00000552397.1	-	3	915	c.19G>A	c.(19-21)Gac>Aac	p.D7N	RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000552395.1_Intron			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	7							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCCAGGGAGTCGGCTGAAAGA	0.428000													5	220					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132537712	132537712	+	Missense_Mutation	SNP	C	C	T	rs143064419	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:132537712C>T	ENST00000265342.7	-	15	1988	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	580						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGCTCTGGCCGGTGCTGGC	0.567000													5	517					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715132	92715132	+	Missense_Mutation	SNP	G	G	A	rs150751119		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:92715132G>A	ENST00000257068.2	+	2	749	c.743G>A	c.(742-744)cGg>cAg	p.R248Q		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	248					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGCGACTTGCGGAGCTTTCTA	0.572000													5	302					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102516511	102516511	+	RNA	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:102516511C>T	ENST00000557932.1	+	0	1459																				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						AGACTTGGGCCGTTGCTCTGA	0.627000													6	272					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36445384	36445384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:36445384T>G	ENST00000255448.4	-	5	1128	c.917A>C	c.(916-918)aAg>aCg	p.K306T	DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T|DCLK1_ENST00000360631.3_Missense_Mutation_p.K306T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	306	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCAGGGGACTTGCTACGCCT	0.532000													6	441					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674740	25674740	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:25674740G>A	ENST00000382051.3	+	10	1130	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	SLC34A2_ENST00000504570.1_Silent_p.P359P|SLC34A2_ENST00000503434.1_Silent_p.P359P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	360					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCACCTCCCGGATCTTGCTG	0.512000			T	ROS1	NSCLC								14	451					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31827866	31827866	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr14:31827866G>A	ENST00000543095.2	-	16	2572	c.2388C>T	c.(2386-2388)tgC>tgT	p.C796C	HEATR5A_ENST00000439348.1_Silent_p.C790C|HEATR5A_ENST00000404677.3_Silent_p.C796C|HEATR5A_ENST00000439727.1_Silent_p.C503C|HEATR5A_ENST00000389961.3_Silent_p.C790C	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	790							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CCACATGAGCGCATACAACCC	0.418000													6	536					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21204188	21204188	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204188G>A	ENST00000342679.4	+	5	531	c.282G>A	c.(280-282)cgG>cgA	p.R94R	MAP2K3_ENST00000316920.6_Silent_p.R65R|MAP2K3_ENST00000361818.5_Silent_p.R65R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	94	Protein kinase.		R -> L (in dbSNP:rs56067280).		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCCTGCAGCGGATCCGGGCCA	0.612000													6	267					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													6	577					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													5	238					8.12818e-05	8.35555e-05	1	1	0
PLBD2	196463	broad.mit.edu	37	12	113821932	113821932	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:113821932G>A	ENST00000280800.3	+	7	1011	c.980G>A	c.(979-981)gGc>gAc	p.G327D	PLBD2_ENST00000545182.2_Missense_Mutation_p.G327D	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	327					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ACCACCATTGGCAACAAGAAC	0.617000													4	161					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740778	44740778	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:44740778G>A	ENST00000313040.7	+	6	2400	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	ZNF227_ENST00000391961.2_Missense_Mutation_p.R681Q|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Missense_Mutation_p.R681Q	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TCAAATCTTCGAGTCCACCTG	0.498000													5	360					0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103986552	103986552	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr14:103986552G>A	ENST00000348956.2	-	7	1231	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	292	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	ACACCTGCCCGCAGCCCGGTG	0.562000													5	190					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99118343	99118343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:99118343G>A	ENST00000370992.4	-	33	3853	c.3742C>T	c.(3742-3744)Ccg>Tcg	p.P1248S	RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S|RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1248						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAGGGATCCGGCCGGCCTTTC	0.582000													7	1002					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													8	752					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136310876	136310876	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:136310876G>A	ENST00000371929.3	+	21	3111	c.2667G>A	c.(2665-2667)acG>acA	p.T889T	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000355699.2_Silent_p.T889T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	889					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCATCAGGACGGGGGCTCAAG	0.677000													5	231					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3697456	3697456	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:3697456T>C	ENST00000324932.7	-	33	5756	c.5336A>G	c.(5335-5337)tAt>tGt	p.Y1779C	NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1796					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTCCATGGCATAGTCCTCAGG	0.592000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								12	322					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													6	179					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													7	36					2.0095e-06	2.14055e-06	1	1	0
HTRA1	5654	broad.mit.edu	37	10	124273731	124273731	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:124273731C>A	ENST00000368984.3	+	9	1427	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	433	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAAACGACGTCATAATCAGCA	0.493000													17	793					3.52763e-06	3.70401e-06	1	1	0
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612000													7	230					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751640	19751640	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:19751640G>A	ENST00000400113.3	-	4	587	c.483C>T	c.(481-483)taC>taT	p.Y161Y		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	161					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACTTCTTGCCGTAATCCACTG	0.592000													6	574					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	622						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATTTAGCTGCGATATGTGTA	0.443000													16	439					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:39316759T>C	ENST00000390661.3	-	1	224	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662000													6	410					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2823355	2823355	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:2823355G>A	ENST00000602557.1	-	60	9780	c.9225C>T	c.(9223-9225)tcC>tcT	p.S3075S	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000520002.1_Silent_p.S3075S|CSMD1_ENST00000537824.1_Silent_p.S3074S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3075	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAATAGTGGCGGATGTGACTG	0.473000													3	62					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45433222	45433222	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:45433222C>T	ENST00000321429.4	+	14	1926	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	507	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAATTTGTGCGGCTACGGGA	0.622000													6	541					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	319					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7679231	7679231	+	Silent	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:7679231C>T	ENST00000256861.6	-	5	690	c.612G>A	c.(610-612)ccG>ccA	p.P204P	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Silent_p.P204P|ITIH5_ENST00000397146.2_Silent_p.P204P|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	204					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTTGTGAAGCGGCAGCACCT	0.647000													21	603					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908384	140908384	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140908384C>T	ENST00000253811.6	-	22	3046	c.2906G>A	c.(2905-2907)cGt>cAt	p.R969H	DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R968H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H			O60610	DIAP1_HUMAN	diaphanous-related formin 1	968	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCTTACGTAACTCCTC	0.448000													5	251					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	241					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804824	27804824	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:27804824G>C	ENST00000408964.2	+	1	5436	c.5385G>C	c.(5383-5385)gaG>gaC	p.E1795D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1795	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCTCTGAGAGAAGCCATC	0.547000													21	666					0	0	1	0	0
STARD3	0	broad.mit.edu	37	17	37819133	37819133	+	Missense_Mutation	SNP	G	G	A	rs35874339		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:37819133G>A	ENST00000336308.5	+	15	1528	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	STARD3_ENST00000544210.2_Missense_Mutation_p.R437H|STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|STARD3_ENST00000580611.1_Missense_Mutation_p.A419T	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	437	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCGACAGCGCATCAGCGAG	0.667000													6	574					0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429554	12429554	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:12429554C>T	ENST00000293725.5	-	4	1490	c.1285G>A	c.(1285-1287)Gcg>Acg	p.A429T		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGCTTTCCCACAC	0.428000													6	612					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338000													10	475					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18675790	18675790	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:18675790C>T	ENST00000308799.4	+	11	2378	c.2159C>T	c.(2158-2160)gCc>gTc	p.A720V	FBXW10_ENST00000395667.1_Missense_Mutation_p.A691V|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000301938.4_Missense_Mutation_p.A638V|FBXW10_ENST00000395665.4_Missense_Mutation_p.A691V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	691										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGGCAGTATGCCGTggaaaaa	0.403000													5	484					0	0	1	0	0
COX10-AS1	0	broad.mit.edu	37	17	13927900	13927900	+	RNA	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:13927900T>C	ENST00000602743.1	-	0	224																											GAGCCTTTTCTGACGATGCCG	0.572000													4	214					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577000													5	458					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94543309	94543309	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:94543309G>A	ENST00000370225.3	-	11	1577	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	ABCA4_ENST00000535735.1_Silent_p.F497F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	497					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCTCCAGTCGAAGTTGGCCA	0.537000													9	505					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													11	381					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110458293	110458293	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110458293T>C	ENST00000329608.6	+	3	591	c.200T>C	c.(199-201)tTt>tCt	p.F67S	CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	67					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAATTACATTTGAGTTTGTA	0.502000													6	328					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29630479	29630479	+	Silent	SNP	G	G	A	rs145675393		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630479G>A	ENST00000373779.3	+	16	2718	c.2589G>A	c.(2587-2589)gcG>gcA	p.A863A	PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000323874.8_Silent_p.A863A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Silent_p.A863A	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687000													5	343					0	0	1	0	0
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483000													6	422					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792328	792328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:792328C>T	ENST00000320230.5	-	8	1199	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	240						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACGGCCACAGCGGCGGCACTC	0.682000													13	564					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													8	458					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541693	55541693	+	Silent	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:55541693T>C	ENST00000361760.1	+	1	780	c.780T>C	c.(778-780)ctT>ctC	p.L260L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCCTTTTCCTTTACTGTGTTC	0.458000													4	251					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21204218	21204218	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204218G>A	ENST00000342679.4	+	5	561	c.312G>A	c.(310-312)caG>caA	p.Q104Q	MAP2K3_ENST00000316920.6_Silent_p.Q75Q|MAP2K3_ENST00000361818.5_Silent_p.Q75Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	104	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CACAGGAGCAGAAGCGGCTGC	0.587000													6	335					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													6	52					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95484551	95484551	+	RNA	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:95484551G>A	ENST00000432432.2	-	0	1383					NR_040113.1																						CTGAGGATACGTTTTCCCAAT	0.358000													5	339					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811854	13811854	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:13811854G>A	ENST00000265104.4	-	44	7413	c.7309C>T	c.(7309-7311)Cgc>Tgc	p.R2437C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2437	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATACAGAAGCGATACAAGTCT	0.453000									Kartagener syndrome				5	323					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968972	75968972	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:75968972T>A	ENST00000308508.5	-	10	5980	c.5888A>T	c.(5887-5889)cAg>cTg	p.Q1963L	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1963	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGCTGCTGCTGGCTCAGTGA	0.672000													18	415					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629467	9629467	+	Silent	SNP	C	C	T	rs140696180		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:9629467C>T	ENST00000382492.2	-	1	996	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGACAGCAACGCGCTGATGG	0.498000													5	234					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341591	55341591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:55341591C>T	ENST00000391728.4	+	9	1229	c.1196C>T	c.(1195-1197)gCa>gTa	p.A399V	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGACATACGCACAGTTGGAT	0.517000													7	490					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													6	202					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855633	79855633	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:79855633T>C	ENST00000338682.3	-	5	878	c.206A>G	c.(205-207)tAc>tGc	p.Y69C		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	69						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTCTAACAGGTATTTCACCAT	0.448000													19	604					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29890194	29890194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr18:29890194G>A	ENST00000399218.4	-	3	410	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000269209.6_Missense_Mutation_p.R119C	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1									p.R119C(1)									ACGTACACGCGTTCAGGAAAT	0.413000													5	498					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	rs147580819		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463000													27	808					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:12542283A>G	ENST00000301547.5	-	4	900	c.703T>C	c.(703-705)Tct>Cct	p.S235P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGAAAAGGCTTTA	0.378000													6	573					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1628952	1628952	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:1628952A>T	ENST00000399685.1	-	1	741	c.664T>A	c.(664-666)Tgc>Agc	p.C222S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	222	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGGAGCAGGGCTTgcag	0.607000													6	919					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29630460	29630460	+	Missense_Mutation	SNP	C	C	T	rs146215972		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630460C>T	ENST00000373779.3	+	16	2699	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	867	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATACCACACGGGGCAGCTG	0.662000													5	330					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													5	335					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230928629	230928629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:230928629G>A	ENST00000354537.1	+	16	1829	c.1747G>A	c.(1747-1749)Ggc>Agc	p.G583S	CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.G609S|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	609	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGACAAGTCCGGCACCATGTC	0.512000													23	611					0	0	1	0	0
TRAV38-1	0	broad.mit.edu	37	14	22740152	22740152	+	RNA	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr14:22740152G>A	ENST00000390464.2	+	0	59																											ACAGAATCCGGCATGGCCCAG	0.483000													4	108					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320990	79320990	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:79320990G>A	ENST00000428286.1	-	8	6323	c.5123C>T	c.(5122-5124)gCg>gTg	p.A1708V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2067V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2067					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGTCAGGCGCGGCAGAGGC	0.512000													6	509					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019206	147019206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:147019206G>A	ENST00000265272.5	-	10	1986	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	JAKMIP2_ENST00000507386.1_Nonsense_Mutation_p.R507*|JAKMIP2_ENST00000333010.6_Nonsense_Mutation_p.R465*	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	507						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTTCTCGTTCAGCGTCG	0.443000													8	1152					0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139944405	139944405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:139944405G>A	ENST00000355097.2	-	7	1113	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	356						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCGAAGTCCGCAAAAAGTCC	0.647000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	368					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:46914959T>C	ENST00000307522.3	-	1	1882	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607000													7	935					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7687308	7687308	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:7687308C>T	ENST00000358368.4	-	12	1563	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	XAB2_ENST00000534844.1_Missense_Mutation_p.R506H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	509					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GTCCAGGATGCGGTCGTACAC	0.617000								Direct reversal of damage;Nucleotide excision repair (NER)					6	633					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40946663	40946663	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:40946663T>C	ENST00000246914.5	+	13	2348	c.2327T>C	c.(2326-2328)gTc>gCc	p.V776A		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	776					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCCCTGCCCGTCCCCCTCCCA	0.592000													4	163					0	0	1	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852478	31852478	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr21:31852478G>A	ENST00000390689.2	-	1	185	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	53	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGCCATATCCGTAGCTTCCAA	0.562000													7	1264					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135067875	135067875	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:135067875G>A	ENST00000370695.4	+	1	249	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	SLC9A6_ENST00000370698.3_Missense_Mutation_p.A72T|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A20T	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	72					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GCAGGACAGCGCCAACCTGCT	0.652000													6	836					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000													5	290					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466059	10466059	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:10466059C>T	ENST00000382483.3	-	4	5772	c.5549G>A	c.(5548-5550)gGt>gAt	p.G1850D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1850					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTACACCTTCTGACTC	0.642000													9	1184					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111428363	111428363	+	Silent	SNP	A	A	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:111428363A>G	ENST00000436913.2	+	5	722	c.321A>G	c.(319-321)agA>agG	p.R107R	LAYN_ENST00000533265.1_Silent_p.R252R|LAYN_ENST00000375615.3_Silent_p.R260R|LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	260	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GGATCTGTAGAAAAAGGCAAG	0.443000													41	1414					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528497	157528497	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:157528497G>A	ENST00000346085.5	+	20	6223	c.6222G>A	c.(6220-6222)tcG>tcA	p.S2074S	ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000350026.5_Silent_p.S2061S|ARID1B_ENST00000275248.4_Silent_p.S2056S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2061					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACCCAACTCGGTCCTGTCGC	0.532000													34	840					0	0	1	0	0
CYP4Z2P	0	broad.mit.edu	37	1	47325354	47325354	+	RNA	SNP	G	G	A	rs4660360	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:47325354G>A	ENST00000505841.1	-	0	1175					NR_002788.2																						CATCTGGAAAGGTAATGGGTT	0.438000													29	297					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242386	3242386	+	Missense_Mutation	SNP	G	G	A	rs146759954	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:3242386G>A	ENST00000217939.6	-	5	1494	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	447						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCTTGGCCGTACTCTGACG	0.488000													6	659					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166405633	166405633	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:166405633G>A	ENST00000402744.4	+	5	1130	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	284					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.A284T(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTGGCCCGGGCATACTCTTC	0.498000													7	992					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282617	152282617	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:152282617G>A	ENST00000368799.1	-	3	4780	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1582	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGGACCCCGCTGATTCTCC	0.607000									Ichthyosis				6	978					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													6	511					3.86212e-05	3.99811e-05	1	1	0
CXorf57	55086	broad.mit.edu	37	X	105855530	105855530	+	Missense_Mutation	SNP	G	G	A	rs146201497		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:105855530G>A	ENST00000372548.4	+	1	329	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	74										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGTGCTGGCCGTCCAGAGGTA	0.567000													5	437					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:72664015C>G	ENST00000425256.1	-	0	885					NR_002164.1																						ATACCACCCCCGGGGCATGCC	0.507000													5	44					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													4	255					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434506	31434506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:31434506G>A	ENST00000389202.2	+	24	2901	c.2852G>A	c.(2851-2853)cGa>cAa	p.R951Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	951					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R951Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGAGCATCGATACCGTGTG	0.498000													5	175					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484703	43484703	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:43484703G>A	ENST00000395891.1	+	11	2537	c.1932G>A	c.(1930-1932)gcG>gcA	p.A644A	HECW1_ENST00000453890.1_Silent_p.A644A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	644					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAATGGCGCGGCCCAGGATG	0.711000													6	140					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCCGCCCCTCCTCCTCGACGG	0.542000													5	249					0.00198382	0.00202515	1	1	0
TYR	7299	broad.mit.edu	37	11	88911586	88911586	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	155			T -> S (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCATAGGGACCTATGGCCAAA	0.413000													19	493					3.32936e-07	3.59865e-07	1	1	0
STK36	27148	broad.mit.edu	37	2	219562684	219562684	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:219562684C>T	ENST00000295709.3	+	25	3296	c.3017C>T	c.(3016-3018)gCc>gTc	p.A1006V	STK36_ENST00000392105.3_Missense_Mutation_p.A985V|STK36_ENST00000392106.2_Missense_Mutation_p.A985V|STK36_ENST00000440309.1_Missense_Mutation_p.A1006V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1006					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGTGTCTTGGCCGACCTCAGG	0.547000													5	505					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													5	342					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													7	394					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940325	144940325	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:144940325C>T	ENST00000525985.1	-	2	7168	c.7097G>A	c.(7096-7098)gGc>gAc	p.G2366D				P58107	EPIPL_HUMAN	epiplakin 1	2366						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGAAGTAGCCGCGCCGGTA	0.687000													9	1729					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					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	p.K413R(2)		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)					GACAATCCCAAAGCCTCCAGA	0.582000													7	355					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs117072442	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:50473221T>C	ENST00000602139.1	+	0	222									sialic acid binding Ig-like lectin 16 (gene/pseudogene)									p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602000													7	314					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7644311	7644311	+	Splice_Site	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7644311G>A	ENST00000572933.1	+	11	3149		c.e11+1		DNAH2_ENST00000570791.1_Splice_Site|DNAH2_ENST00000389173.2_Splice_Site|DNAH2_ENST00000082259.3_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTCATGACCGTAAGTGCCTG	0.592000													5	261					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917131	43917131	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:43917131G>A	ENST00000336086.6	-	4	4038	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.A601V|URGCP_ENST00000453200.1_Missense_Mutation_p.A644V|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.A601V|URGCP_ENST00000402306.3_Missense_Mutation_p.A635V|URGCP_ENST00000223341.7_Missense_Mutation_p.A601V			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	644				D -> G (in Ref. 6; BAA91312).	cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGAAGTGGGCAAAACGCCT	0.627000													5	186					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4453441	4453441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4453441G>A	ENST00000254718.4	-	9	1537	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	411	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACATGGCCCGCAGCCAGGCC	0.597000													5	272					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114185121	114185121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:114185121G>A	ENST00000393081.1	+	18	1926	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H|ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	540					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCATCGACCGTAAAAAGAAC	0.388000													4	233					0	0	1	0	0
NOL12	79159	broad.mit.edu	37	22	38084889	38084889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:38084889G>A	ENST00000359114.4	+	4	341	c.271G>A	c.(271-273)Gca>Aca	p.A91T	NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	91						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GTTGGTGACAGCAAAGACGGA	0.642000													5	463					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22292036	22292036	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:22292036C>T	ENST00000323684.1	+	1	972	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	310	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TAACTCGGTTCGTAGCCAAGT	0.468000													10	315					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													5	189					3.07112e-06	3.24787e-06	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.R1453C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTCCCTTGCGTAACATGTTG	0.483000													6	215					0	0	1	0	0
H2AFZ	3015	broad.mit.edu	37	4	100870830	100870830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:100870830G>A	ENST00000296417.5	-	2	288	c.71C>T	c.(70-72)gCc>gTc	p.A24V	H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	24					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTGCAAGCCGGCTCTCTGCGA	0.567000													6	611					0	0	1	0	0
HARS2	23438	broad.mit.edu	37	5	140075196	140075196	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140075196G>A	ENST00000230771.3	+	5	726	c.503G>A	c.(502-504)cGt>cAt	p.R168H	HARS2_ENST00000435019.2_Missense_Mutation_p.R128H|HARS2_ENST00000448069.2_Intron|HARS2_ENST00000508522.1_Missense_Mutation_p.R143H|HARS2_ENST00000432671.2_Intron|HARS2_ENST00000437649.2_Intron	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	168					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	p.R168H(2)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAAGGCCGTTATAGGGAG	0.488000													5	452					0	0	1	0	0
CGB7	94027	broad.mit.edu	37	19	49558229	49558229	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:49558229T>C	ENST00000356213.4	-	4	2923	c.46A>G	c.(46-48)Aca>Gca	p.T16A	CGB7_ENST00000597853.1_Missense_Mutation_p.T18A|CGB7_ENST00000596965.1_Missense_Mutation_p.T18A|CGB7_ENST00000377280.3_Missense_Mutation_p.T18A					chorionic gonadotropin, beta polypeptide 7									p.T18A(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GATGCCCATGTCCCGCCCATG	0.657000													7	548					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	254					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016448	121016448	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:121016448G>A	ENST00000392793.1	+	12	3999	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1243	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.R1243H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGTGTGGCCGCTACAACGGC	0.532000													9	331					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													9	672					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946277	46946277	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:46946277C>T	ENST00000429979.1	-	3	938	c.334G>A	c.(334-336)Gtt>Att	p.V112I	KIAA0226L_ENST00000378781.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.V45I|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.V112I	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	112	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GCGCTGCCAACGGAGTCTGTG	0.567000													11	246					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850345	35850345	+	Missense_Mutation	SNP	C	C	T	rs150489647		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:35850345C>T	ENST00000327809.4	+	2	754	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	185						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	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)			CCTGCCCGTGCGGCTGGAGAT	0.622000													5	299					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													6	163					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:12785492_12785493insT	ENST00000332530.3	+	3	598_599	c.372_373insT	c.(370-375)tagtttfs	p.*F124fs	AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	194							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455													8	768	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								16	524	---	---	---	---					
IPO13	9670	broad.mit.edu	37	1	44425920	44425922	+	Splice_Site	DEL	GGT	GGT	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:44425920_44425922delGGT	ENST00000372343.3	+	12	2690_2692	c.2028_splice	c.e12-1	p.P676_splice		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	676					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGCCTTCAGGTGGTGGTGGTG	0.562													7	1198	---	---	---	---					
CYP4Z2P	0	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2																						AAAAAAAAAAGTTGTTTTAAGAC	0.409													8	225	---	---	---	---					
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccg>cc	p.PQ37del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	37					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.700													8	256	---	---	---	---					
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110300579_110300580insT	ENST00000369805.3	-	9	1050_1051	c.821_822insA	c.(820-822)aaafs	p.K274fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm	protein binding	p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545													7	599	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	144	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								9	695	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													12	891	---	---	---	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcg>gc	p.AE30del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	30								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													8	319	---	---	---	---					
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)tafs	p.I410fs	SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343													7	118	---	---	---	---					
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576													7	312	---	---	---	---					
DHX57	90957	broad.mit.edu	37	2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)gga>gg	p.GG47del		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	47	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532													7	335	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189943835	189943836	+	Splice_Site	INS	-	-	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:189943835_189943836insA	ENST00000374866.3	-	15	1235		c.e15-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGCTTCACCCTAAAAAAAAATG	0.381													12	275	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-	rs140194798		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)atfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418													10	282	---	---	---	---					
SGOL1	151648	broad.mit.edu	37	3	20216050	20216050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:20216050delT	ENST00000412997.1	-	6	1324	c.973delA	c.(973-975)tgfs	p.M325fs	SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000263753.4_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000421451.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000412868.1_Frame_Shift_Del_p.M325fs|SGOL1_ENST00000442720.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	325					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GATTTGTGCATTTTTTTTTGG	0.318													8	133	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1837-1842)agccccfs	p.SP613fs	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	613					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421													9	596	---	---	---	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gtfs	p.V100fs	CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488													7	1100	---	---	---	---					
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)agfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522													7	1621	---	---	---	---					
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)del	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.640													8	208	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)ttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TGCTCAGGTCAAAAAAAATTG	0.294													9	209	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:134073569_134073571delCTG	ENST00000264360.4	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctc>ct	p.LC758del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	758	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													7	257	---	---	---	---					
PCDHB4	0	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(904-909)ttaaaafs	p.LK302fs		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366													11	507	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149777931	149777932	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:149777931_149777932insA	ENST00000451292.1	+	26	4576_4577	c.4468_4469insA	c.(4468-4470)aaafs	p.K1490fs	TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.K1453fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.K1454fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.K1377fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.K1376fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.K1416fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.K1453fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1453					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aaaagacaaagaaaaaaaagaa	0.421													7	270	---	---	---	---					
GABRR2	2570	broad.mit.edu	37	6	89975427	89975429	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:89975427_89975429delAAG	ENST00000402938.3	-	7	925_927	c.792_794delCTT	c.(790-795)ttg>tt	p.FL264del	GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	289					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TGTTTGGAGCAAGAAGAAGAAGA	0.517													8	269	---	---	---	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)del	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								11	323	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													7	328	---	---	---	---					
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gaa>g	p.EK1132del	AEBP1_ENST00000450684.2_In_Frame_Del_p.EK707del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1132	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552													7	214	---	---	---	---					
ESCO2	157570	broad.mit.edu	37	8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A	rs80359854		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)aaafs	p.K251fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome				8	216	---	---	---	---					
PLAU	5328	broad.mit.edu	37	10	75673298	75673298	+	Splice_Site	DEL	A	A	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:75673298delA	ENST00000446342.1	+	6	893	c.409_splice	c.e6-1	p.G137_splice	PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	154	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GTCCTCCAGGAAAAAAGCCCT	0.517													8	1303	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													8	562	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423													7	69	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	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*								7	218	---	---	---	---					
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:50452565_50452567delGAG	ENST00000228468.4	+	2	401_403	c.16_18delGAG	c.(16-18)del	p.E9del	ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	9					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACTGAAGGCCGAGGAGGAGGAGG	0.616													9	348	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													10	664	---	---	---	---					
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:103695960delG	ENST00000548048.1	-	9	1304	c.808delC	c.(808-810)gcfs	p.R270fs	C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587													8	533	---	---	---	---					
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)del	p.E1001del		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631													7	379	---	---	---	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	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													7	249	---	---	---	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:59182564_59182565delCT	ENST00000380516.2	-	15	2081_2082	c.1994_1995delAG	c.(1993-1995)gfs	p.E665fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	665	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475													11	456	---	---	---	---					
CSPG4P5	0	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													7	40	---	---	---	---					
CREBBP	1387	broad.mit.edu	37	16	3817721	3817721	+	Splice_Site	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:3817721delT	ENST00000262367.5	-	16	4059	c.3250_splice	c.e16+1	p.I1084_splice	CREBBP_ENST00000382070.3_Splice_Site_p.I1046_splice	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1084					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AATGGCCTACTTTTTTTGCGC	0.398			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						8	368	---	---	---	---					
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)del	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del			Q99613	EIF3C_HUMAN	eukaryotic translation initiation factor 3, subunit C	294	Poly-Glu.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562													8	2755	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													10	120	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													7	347	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													12	441	---	---	---	---					
CCDC144NL	339184	broad.mit.edu	37	17	20768756	20768756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:20768756delT	ENST00000327925.5	-	4	757	c.638delA	c.(637-639)agfs	p.K213fs	CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	213										large_intestine(3)|lung(3)|skin(1)	7						CACATGATTCTTCCCCTTTCT	0.368													8	173	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													13	409	---	---	---	---					
SPAG9	9043	broad.mit.edu	37	17	49157025	49157025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:49157025delT	ENST00000262013.7	-	2	552	c.344delA	c.(343-345)agfs	p.K115fs	SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	115					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTGTAAGTCCTTTTTTTCCTG	0.313													7	313	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141015	66141016	+	RNA	INS	-	-	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:66141015_66141016insA	ENST00000590019.1	-	0	70																											CCAAGATTTCTACAAAAAAAAA	0.322													7	154	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													18	731	---	---	---	---					
NUCB1	4924	broad.mit.edu	37	19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aag>a	p.KQ400del	NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	400						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.640													7	242	---	---	---	---					
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtg>gt	p.VE150del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	150					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547													8	661	---	---	---	---					
ANKRD20A11P	0	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1																						ACCCTGCACAGAAAAAAAGTTG	0.307													4	9	---	---	---	---					
SLC19A1	6573	broad.mit.edu	37	21	46951916	46951918	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr21:46951916_46951918delCAG	ENST00000311124.4	-	3	486_488	c.334_336delCTG	c.(334-336)del	p.L112del	SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del|SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	112					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGAGTGGCCCAGCAGCAGCAGC	0.645													9	131	---	---	---	---					
ZC3H7B	23264	broad.mit.edu	37	22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cct>c	p.PA967del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	983					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGAAGCCCCTGCTGCTGCTGC	0.650													7	765	---	---	---	---					
CA5B	11238	broad.mit.edu	37	X	15768189	15768189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:15768189delC	ENST00000318636.3	+	2	179	c.43delC	c.(43-45)cafs	p.P15fs	CA5B_ENST00000380313.1_3'UTR|CA5B_ENST00000454127.2_Frame_Shift_Del_p.P15fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	15					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	p.P15A(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TCAAGCCTCTCCAGGCAAATT	0.468													20	575	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140993906	140993908	+	In_Frame_Del	DEL	CCT	CCT	-	rs146816736	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:140993906_140993908delCCT	ENST00000285879.4	+	4	1002_1004	c.716_718delCCT	c.(715-720)ccc>c	p.PS239del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	239				P -> S (in Ref. 1 and 2).			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)					CCTGTGAGCCCCTCCTCCTCCTC	0.473										HNSCC(15;0.026)			7	1611	---	---	---	---					
