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
ATAD3C	219293	broad.mit.edu	37	1	1389850	1389850	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:1389850G>A	ENST00000378785.2	+	4	1343	c.348G>A	c.(346-348)acG>acA	p.T116T		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	116							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGCATCACGGTGCTTGAGG	0.667000													4	85					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140218269	140218269	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140218269C>T	ENST00000340951.4	-	19	2287	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	EXD3_ENST00000342129.4_Missense_Mutation_p.D349N	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	698					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGGAGCAGTCGACCGAGAGG	0.672000													21	141					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62535605	62535605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:62535605G>A	ENST00000383710.4	-	11	2288	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	CADPS_ENST00000283269.9_Nonsense_Mutation_p.Q647*|CADPS_ENST00000357948.3_Nonsense_Mutation_p.Q647*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	647					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCATCCAGCTGAGGTACATTT	0.478000													56	414					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13260457	13260457	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:13260457C>T	ENST00000262487.3	+	3	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	185						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GTACCTCAGACGACAGCAACT	0.597000													34	306					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52779460	52779460	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:52779460C>G	ENST00000334635.5	+	10	905	c.725C>G	c.(724-726)tCa>tGa	p.S242*	DCUN1D4_ENST00000451288.2_Nonsense_Mutation_p.S286*|DCUN1D4_ENST00000381437.4_Nonsense_Mutation_p.S182*|DCUN1D4_ENST00000381441.3_Nonsense_Mutation_p.S207*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	242	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			CATCAGCAATCAAAATACAAA	0.333000													21	151					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000													30	242					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128929	83128929	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:83128929T>G	ENST00000329312.4	+	4	1250	c.1213T>G	c.(1213-1215)Ttc>Gtc	p.F405V		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	405					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAATTACATTCTCTACTGA	0.318000													18	123					0	0	1	0	0
IGHA2	0	broad.mit.edu	37	14	106054174	106054174	+	RNA	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:106054174C>T	ENST00000390539.2	-	0	344																											GTCGGTGCAGCGACAGTCGGG	0.662000													8	67					0	0	1	0	0
WASH4P	0	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:66940G>A	ENST00000326592.9	-	5	1354	c.696C>T	c.(694-696)agC>agT	p.S232S															p.S232S(1)									GCTCTCTCTTGCTGATGGACA	0.597000													10	92					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	G	A	rs150952802		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:43766196G>A	ENST00000244293.7	-	3	591	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Silent_p.D175D|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000443718.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532000													776	1350					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													7	280					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282184	74282184	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:74282184C>T	ENST00000253577.3	-	14	1941	c.1917G>A	c.(1915-1917)tcG>tcA	p.S639S	ABCB7_ENST00000373394.3_Silent_p.S638S|ABCB7_ENST00000339447.4_Silent_p.S598S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	638	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TCGAATCTAACGATGAAGTAG	0.353000													40	258					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													7	133					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493000													7	363					0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20964418	20964418	+	Silent	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:20964418G>C	ENST00000321556.4	+	2	565	c.471G>C	c.(469-471)ctG>ctC	p.L157L		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	157	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAGTATCTGATAGGGCAGT	0.547000													52	344					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	194				R -> L (in Ref. 1; AAL55863).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAACGCGGCCGCAAAAAGATC	0.647000													6	248					0	0	1	0	0
RP11-368J21.3	0	broad.mit.edu	37	16	22588015	22588015	+	RNA	SNP	A	A	G	rs460493	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:22588015A>G	ENST00000550753.1	+	0	2490					NR_003676.2																						TGGCCTGAGCACATCGTCCTG	0.557000													8	337					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58019519	58019519	+	Silent	SNP	C	C	T	rs145592443		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:58019519C>T	ENST00000320442.4	+	14	1994	c.1683C>T	c.(1681-1683)tgC>tgT	p.C561C	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	561						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CACTGGGCTGCGGCAAGTGAG	0.582000													42	244					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668330	20668330	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:20668330T>C	ENST00000404938.2	+	4	780	c.128T>C	c.(127-129)cTg>cCg	p.L43P		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	696	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTGATGGACTGGACATCACA	0.463000													18	121					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10257056	10257056	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:10257056C>T	ENST00000340748.4	-	27	3052	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	DNMT1_ENST00000540357.1_Silent_p.V939V|DNMT1_ENST00000359526.4_Silent_p.V955V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	939					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGGCAGGTACACACCATCAC	0.632000													22	209					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													8	280					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47677787	47677787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:47677787G>A	ENST00000393331.3	-	12	1548	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	SPOP_ENST00000504102.1_Nonsense_Mutation_p.Q360*|SPOP_ENST00000347630.2_Nonsense_Mutation_p.Q360*|SPOP_ENST00000503676.1_Nonsense_Mutation_p.Q360*|SPOP_ENST00000393328.2_Nonsense_Mutation_p.Q360*	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	360					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AAAGGGCACTGTGCTGAAGCC	0.527000										Prostate(2;0.17)			151	918					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81242056	81242056	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:81242056C>T	ENST00000552864.1	-	3	449	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	83					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCACGGAATTCGGGACAGCCA	0.358000													15	149					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304519	114304519	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:114304519G>C	ENST00000309235.5	+	6	1462	c.1304G>C	c.(1303-1305)gGa>gCa	p.G435A	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	435					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AATGAGAGTGGAGAAAAAACT	0.398000													62	391					0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67242967	67242967	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:67242967C>T	ENST00000282670.2	+	5	498	c.370C>T	c.(370-372)Cca>Tca	p.P124S		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	124										large_intestine(2)|lung(10)|skin(1)	13						CTTGATGATTCCACGGTATAA	0.383000													73	515					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27149763	27149763	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:27149763C>T	ENST00000343028.4	-	4	655	c.430G>A	c.(430-432)Gat>Aat	p.D144N	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	144						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATATCTAAATCGAACTCCAAA	0.383000													25	215					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9026241	9026241	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9026241G>A	ENST00000397910.4	-	14	36948	c.36745C>T	c.(36745-36747)Cgc>Tgc	p.R12249C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12251	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGTGCGACGCATGTCC	0.552000													101	551					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16876907	16876907	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:16876907C>T	ENST00000380087.2	-	4	733	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RBBP7_ENST00000380084.4_Missense_Mutation_p.E169K|RBBP7_ENST00000404022.1_Missense_Mutation_p.E116K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	125					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CGGTTTACTTCTCCTTCGTGA	0.393000													67	493					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1																						CAGACTAAAGGCAAACAAGGA	0.498000													16	204					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990677	21990677	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:21990677A>G	ENST00000594012.1	-	7	2658	c.2144T>C	c.(2143-2145)cTt>cCt	p.L715P	ZNF43_ENST00000598381.1_Missense_Mutation_p.L715P|ZNF43_ENST00000595461.1_Missense_Mutation_p.L715P|ZNF43_ENST00000354959.4_Missense_Mutation_p.L721P	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGTTCAATAAGGTTTGAGGA	0.358000													56	313					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38225420	38225420	+	Silent	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:38225420T>C	ENST00000379705.3	-	8	2918	c.2061A>G	c.(2059-2061)gaA>gaG	p.E687E	TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Silent_p.E687E|TRPC4_ENST00000355779.2_Silent_p.E687E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Silent_p.E687E|TRPC4_ENST00000338947.5_Silent_p.E514E|TRPC4_ENST00000379681.3_Silent_p.E687E|TRPC4_ENST00000379679.1_Silent_p.E514E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	687	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCCAAAACTTTCTGGCTTTC	0.368000													60	363					0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028827	141028827	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:141028827G>A	ENST00000435817.2	-	6	474	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	FCHSD1_ENST00000522783.1_Missense_Mutation_p.R140W|FCHSD1_ENST00000522126.1_Missense_Mutation_p.R66W|FCHSD1_ENST00000519800.1_Missense_Mutation_p.R140W	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	142									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCTCCCGGACAGACTGC	0.602000													95	669					0	0	1	0	0
XIST	0	broad.mit.edu	37	X	73051051	73051051	+	RNA	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:73051051G>A	ENST00000429829.1	-	0	11631					NR_001564.2																						CCTAGGGATCGTCAAAGGGAA	0.443000													12	84					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54929924	54929924	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:54929924C>T	ENST00000293373.6	+	28	3047	c.2968C>T	c.(2968-2970)Cct>Tct	p.P990S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P940S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	990					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TACTTCATCTCCTGAGGAGGA	0.443000													40	326					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574559	22574559	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:22574559T>C	ENST00000357774.5	-	4	1599	c.1478A>G	c.(1477-1479)gAa>gGa	p.E493G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GCCACATTCTTCACATTTGTA	0.403000													10	670					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													9	182					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32137235	32137235	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:32137235G>A	ENST00000373672.3	-	48	3647	c.3131C>T	c.(3130-3132)cCg>cTg	p.P1044L	COL16A1_ENST00000271069.6_Missense_Mutation_p.P1044L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1044	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGAGGACCCGGGGAGCCCCT	0.602000													20	147					0	0	1	0	0
RP11-435B5.4	0	broad.mit.edu	37	1	143403554	143403554	+	RNA	SNP	T	T	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468000													4	111					0	0	1	0	0
AP000525.9	0	broad.mit.edu	37	22	16150968	16150968	+	RNA	SNP	C	C	T	rs138311033	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:16150968C>T	ENST00000447898.1	-	0	1146																											CAAATTTGGACTCTTGACTCT	0.403000													4	96					0	0	1	0	0
FAM86FP	0	broad.mit.edu	37	12	8386955	8386955	+	RNA	SNP	T	T	C	rs75997195		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:8386955T>C	ENST00000427893.2	-	0	811																											CTTGTGCTCCTGGCAGGCAGC	0.612000													14	383					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													7	227					0	0	1	0	0
PTGR2	145482	broad.mit.edu	37	14	74345810	74345810	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:74345810C>G	ENST00000555661.1	+	6	676	c.531C>G	c.(529-531)ttC>ttG	p.F177L	PTGR2_ENST00000555228.1_Missense_Mutation_p.F177L|PTGR2_ENST00000554885.1_Missense_Mutation_p.F128L|RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.F43L|PTGR2_ENST00000267568.4_Missense_Mutation_p.F177L			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	177					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						TTGGCCATTTCTTAGGTTGTT	0.353000													71	499					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990731	47990731	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:47990731G>A	ENST00000371741.4	-	2	1532	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	456					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCAATGCTCCGGGCAAAAGCA	0.453000													106	660					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								14	458					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329161	23329161	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:23329161C>A	ENST00000597761.2	+	4	1514	c.1315C>A	c.(1315-1317)Ctt>Att	p.L439I		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTCCTCAACCCTTACTACACA	0.408000													24	272					3.85864e-22	4.17798e-22	1	1	0
SOX17	64321	broad.mit.edu	37	8	55372342	55372342	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:55372342C>T	ENST00000297316.4	+	2	1236	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	344	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCTGCCGGGACGGCACGGACC	0.692000													12	62					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196736601	196736601	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:196736601C>T	ENST00000296350.5	-	11	1526	c.1413G>A	c.(1411-1413)cgG>cgA	p.R471R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	471	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGCGCTTGCCCCGAAGCTCAT	0.642000													42	300					0	0	1	0	0
GOLGA6L5	0	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353000													6	55					3.27435e-08	3.35996e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9047967	9047967	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9047967A>G	ENST00000397910.4	-	5	33867	c.33664T>C	c.(33664-33666)Ttt>Ctt	p.F11222L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11224	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGATTTGAAAACGCACTGGTC	0.478000													12	117					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160219	104160219	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:104160219G>C	ENST00000414303.2	+	1	221	c.157G>C	c.(157-159)Gga>Cga	p.G53R		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	53					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GAAGGGATTTGGAGGGGTTCA	0.408000													117	594					0	0	1	0	0
CLEC18A	348174	broad.mit.edu	37	16	69988323	69988323	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:69988323G>T	ENST00000288040.6	+	3	490	c.303G>T	c.(301-303)tgG>tgT	p.W101C	CLEC18A_ENST00000393701.2_Missense_Mutation_p.W101C|CLEC18A_ENST00000568461.1_Missense_Mutation_p.W101C|CLEC18A_ENST00000449317.2_Missense_Mutation_p.W101C	NM_001136214.1|NM_001271197.1	NP_001129686.1|NP_001258126.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	101	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						CCGGCCTGTGGCGCACCCTGC	0.657000													15	181					2.35188e-11	2.46164e-11	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													10	351					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													9	134					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2418364	2418364	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:2418364G>A	ENST00000449969.1	+	6	915	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.E279K|PLCH2_ENST00000378486.3_Missense_Mutation_p.E279K|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.E279K			O75038	PLCH2_HUMAN	phospholipase C, eta 2	279					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGTGACCCTCGAGAGCTGCCA	0.627000													10	54					0	0	1	0	0
AC226119.5	0	broad.mit.edu	37	4	3952899	3952899	+	RNA	SNP	A	A	T	rs17410906		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:3952899A>T	ENST00000281228.8	-	0	208				FAM86EP_ENST00000313946.8_RNA																							AGCACCGGGCATACTTGACTG	0.557000													9	280					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135505739	135505739	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:135505739C>A	ENST00000372159.3	-	16	2009	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	DDX31_ENST00000438527.3_Missense_Mutation_p.A491S|DDX31_ENST00000372153.1_Silent_p.P611P	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	620	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CCAATCCGGGCGGTTCTTCCA	0.478000													82	671					7.31121e-38	7.97125e-38	1	1	0
MYBPC1	4604	broad.mit.edu	37	12	102056180	102056180	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:102056180A>G	ENST00000549145.1	+	20	2141	c.2041A>G	c.(2041-2043)Agg>Ggg	p.R681G	MYBPC1_ENST00000545503.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R656G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R649G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R655G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R654G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R569G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R642G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	668	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAGGTGGATGAGGCTGAATTT	0.403000													31	240					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661892	6661892	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:6661892C>T	ENST00000299441.3	-	2	1364	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	318	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGTGGCCGCTCTAACTG	0.612000													61	411					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													9	303					0	0	1	0	0
SEC22C	9117	broad.mit.edu	37	3	42590112	42590112	+	Missense_Mutation	SNP	G	G	A	rs145549289	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:42590112G>A	ENST00000273156.7	-	7	958	c.749C>T	c.(748-750)tCg>tTg	p.S250L	SEC22C_ENST00000536332.1_Missense_Mutation_p.S180L|SEC22C_ENST00000417572.1_Missense_Mutation_p.S250L|SEC22C_ENST00000423701.2_Missense_Mutation_p.S228L	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	0					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GCTGGCTCACGAGGTTTGGTC	0.547000													28	206					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													5	189					0	0	1	0	0
IGHV4-59	0	broad.mit.edu	37	14	107083426	107083426	+	RNA	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:107083426G>C	ENST00000455737.1	-	0	217																											CCCTTCCCTGGGGGCTGCCGG	0.567000													10	411					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298663	125298663	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:125298663G>A	ENST00000538699.1	-	2	1325	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	DCAF12L2_ENST00000360028.2_Silent_p.D415D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	415										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCACCCAGACGTCATCTTGGT	0.617000													118	776					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208441	138208441	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:138208441C>T	ENST00000409968.1	+	15	3164	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S	THSD7B_ENST00000413152.2_Missense_Mutation_p.P965S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.P996S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGTGTCATTCCCTGCCCATT	0.363000													31	159					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52849599	52849599	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:52849599C>T	ENST00000371568.3	-	12	1984	c.1766G>A	c.(1765-1767)gGc>gAc	p.G589D	ORC1_ENST00000371566.1_Missense_Mutation_p.G589D	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	589	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCTTTTTGGCCTGTTAGCTT	0.498000													26	240					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64225477	64225477	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:64225477G>A	ENST00000205948.6	-	1	58	c.21C>T	c.(19-21)atC>atT	p.I7I		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	7					blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCGAGAACAAGATGAGCACTG	0.388000													22	164					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:29852959G>A	ENST00000357402.5	+	9	1372	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E412K	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	412					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCAGGACGAAGTCCTGTG	0.617000													14	75					0	0	1	0	0
TMEM208	29100	broad.mit.edu	37	16	67262758	67262758	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:67262758C>G	ENST00000563953.1	+	5	574	c.148C>G	c.(148-150)Ctc>Gtc	p.L50V	TMEM208_ENST00000304800.9_Missense_Mutation_p.L120V|TMEM208_ENST00000563426.1_Intron|TMEM208_ENST00000565201.1_Missense_Mutation_p.L120V			Q9BTX3	TM208_HUMAN	transmembrane protein 208	120						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CTGCTTCTCTCTCTATGTCTG	0.522000													74	503					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7061156	7061156	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061156C>G	ENST00000456013.1	+	3	384	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	PTPN6_ENST00000447931.2_Missense_Mutation_p.Q9E|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q50E|PTPN6_ENST00000318974.9_Missense_Mutation_p.Q48E	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	48	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGTGGGGGATCAGGTGACCCA	0.597000													17	188					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149839952	149839952	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:149839952G>A	ENST00000370396.2	+	15	1750	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	MTM1_ENST00000413012.2_Missense_Mutation_p.E529K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E451K|MTM1_ENST00000542741.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	566					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.E566K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTACGCGACGAATACATAAA	0.522000													40	289					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44539794	44539794	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:44539794G>C	ENST00000542937.1	-	2	791	c.257C>G	c.(256-258)tCt>tGt	p.S86C	PLTP_ENST00000354050.4_Missense_Mutation_p.S66C|PLTP_ENST00000420868.2_Missense_Mutation_p.S66C|PLTP_ENST00000372431.3_Missense_Mutation_p.S66C|PLTP_ENST00000477313.1_Missense_Mutation_p.S66C			P55058	PLTP_HUMAN	phospholipid transfer protein	66					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CACTTACTCAGAGATGTTGTA	0.637000													70	447					0	0	1	0	0
LSM4	25804	broad.mit.edu	37	19	18420597	18420597	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:18420597G>A	ENST00000593829.1	-	4	472	c.219C>T	c.(217-219)gaC>gaT	p.D73D	LSM4_ENST00000252816.5_Silent_p.D59D	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	73					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						CGATGATCTCGTCGGGGATGC	0.652000													37	173					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28208522	28208522	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:28208522C>T	ENST00000373921.3	+	4	691	c.687C>T	c.(685-687)gtC>gtT	p.V229V	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.V229V	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		CCCTGGAGGTCGACGTGGAGG	0.647000													23	262					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50823922	50823922	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:50823922G>A	ENST00000376959.2	-	3	2261	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	KCNC3_ENST00000474951.1_Missense_Mutation_p.R16C|KCNC3_ENST00000477616.1_Missense_Mutation_p.R700C|KCNC3_ENST00000391818.2_Silent_p.A36A			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	700					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGCTATAGCGGCCACGGCTT	0.652000													27	173					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195395402	195395402	+	RNA	SNP	C	C	A	rs149044725	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:195395402C>A	ENST00000445430.1	+	0	809																											TACGGGCGCACCTACTTGAGC	0.597000													15	234					1.75199e-13	1.85852e-13	1	1	0
AP000525.9	0	broad.mit.edu	37	22	16150985	16150985	+	RNA	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:16150985C>T	ENST00000447898.1	-	0	1129																											CTCTGAAGCACCAATTTCTTC	0.388000													4	83					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183345	197183345	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:197183345C>T	ENST00000260983.2	-	9	2451	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	HECW2_ENST00000409111.1_Missense_Mutation_p.E401K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	757	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCACTGCCTTCTTCTTGCGGT	0.657000													42	243					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225669	21225669	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:21225669C>T	ENST00000233242.1	-	29	12752	c.12625G>A	c.(12625-12627)Ggg>Agg	p.G4209R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4209					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTATATCCCAGGTTTCCCC	0.428000													50	328					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7061302	7061302	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061302C>T	ENST00000456013.1	+	3	530	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PTPN6_ENST00000447931.2_Silent_p.L57L|PTPN6_ENST00000399448.1_Silent_p.L98L|PTPN6_ENST00000318974.9_Silent_p.L96L	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	96	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCATCCACCTCAAGTACCCGC	0.612000													59	385					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								9	390					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173836	7173836	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7173836A>G	ENST00000406697.1	+	11	1514	c.886A>G	c.(886-888)Aag>Gag	p.K296E	C1S_ENST00000402681.3_Missense_Mutation_p.K129E|C1S_ENST00000360817.5_Missense_Mutation_p.K296E|C1S_ENST00000328916.3_Missense_Mutation_p.K296E			P09871	C1S_HUMAN	complement component 1, s subcomponent	296	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCCCTGCCCTAAGGAAGACAC	0.418000													31	205					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384748	53384748	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:53384748G>A	ENST00000595635.1	-	8	1132	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H211Y|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCCCTGTGAATTCTAGTA	0.378000													65	415					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44220861	44220861	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:44220861G>A	ENST00000371554.1	+	11	2025	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	604					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATGGAGCGGATCATGAAA	0.527000													12	450					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													7	284					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53552313	53552313	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:53552313C>T	ENST00000267085.4	-	17	1778	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	CSAD_ENST00000453446.2_Silent_p.R488R|CSAD_ENST00000379843.3_Silent_p.R341R|CSAD_ENST00000444623.1_Silent_p.R488R|CSAD_ENST00000379846.1_Silent_p.R341R	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	488					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCTGGCCTAGCCGCTCCAGCT	0.622000													32	201					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18255424	18255424	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:18255424C>T	ENST00000262811.5	+	22	2646	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	882	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTCCTCCAGCGGTGGCAGTG	0.697000													7	248					0	0	1	0	0
AC226119.5	0	broad.mit.edu	37	4	3952901	3952901	+	RNA	SNP	A	A	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:3952901A>T	ENST00000281228.8	-	0	206				FAM86EP_ENST00000313946.8_RNA																							CACCGGGCATACTTGACTGAC	0.552000													10	285					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195395399	195395399	+	RNA	SNP	G	G	A	rs62287990	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:195395399G>A	ENST00000445430.1	+	0	806																											GGCTACGGGCGCACCTACTTG	0.607000													15	228					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29913325	29913325	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:29913325C>A	ENST00000490103.1	-	16	1642	c.1520G>T	c.(1519-1521)tGc>tTc	p.C507F	THOC5_ENST00000397871.1_Missense_Mutation_p.C507F|THOC5_ENST00000397872.1_Missense_Mutation_p.C507F|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Missense_Mutation_p.C507F	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	507					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGTACTGGCAATCACTGGT	0.488000													22	140					1.96292e-10	2.02749e-10	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11157013	11157013	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:11157013G>A	ENST00000337414.4	-	13	3767	c.2895C>T	c.(2893-2895)aaC>aaT	p.N965N	ARHGAP6_ENST00000303025.6_Silent_p.N762N|ARHGAP6_ENST00000380736.1_Silent_p.N762N|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	965					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGCATCGGGGTTGTCGGTCG	0.741000													6	54					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23826539	23826539	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:23826539C>T	ENST00000354639.3	+	20	2878	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	STK31_ENST00000355870.3_Missense_Mutation_p.S828L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.S828L|STK31_ENST00000428484.1_Missense_Mutation_p.S805L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	828	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCTTTAAATTCAGAAGTAAGT	0.353000													64	456					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166904211	166904211	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:166904211C>G	ENST00000423058.2	-	8	1113	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D366H|SCN1A_ENST00000375405.3_Missense_Mutation_p.D366H|SCN1A_ENST00000303395.4_Missense_Mutation_p.D366H	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	366			D -> E (in SMEI; dbSNP:rs121917958).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTGAAGGTATCAAAGCTTGTG	0.418000													72	495					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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)			34	199					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													7	336					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362468	72362468	+	Silent	SNP	G	G	A	rs145145054		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:72362468G>A	ENST00000001146.2	-	3	713	c.510C>T	c.(508-510)cgC>cgT	p.R170R	CYP26B1_ENST00000546307.1_Silent_p.R95R|CYP26B1_ENST00000412253.1_5'UTR	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	170					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGCTCCAGGCGCGCAGTGTGT	0.622000													78	455					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	73					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													9	293					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510803	49510803	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:49510803C>T	ENST00000396029.3	-	5	1015	c.448G>A	c.(448-450)Gat>Aat	p.D150N	ADNP_ENST00000371602.4_Missense_Mutation_p.D150N|ADNP_ENST00000349014.3_Missense_Mutation_p.D150N|ADNP_ENST00000396032.3_Missense_Mutation_p.D150N	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTAAGGCCATCATTTTTGTTT	0.398000													127	894					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62954668	62954668	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:62954668A>C	ENST00000251157.5	-	42	5436	c.5403T>G	c.(5401-5403)gaT>gaG	p.D1801E	DOCK7_ENST00000340370.5_Missense_Mutation_p.D1779E	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1810	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTTTCTTTGCATCCCGATTAG	0.328000													34	258					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114795342	114795342	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:114795342G>A	ENST00000334062.7	-	5	515	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	RASA3_ENST00000542651.1_Missense_Mutation_p.A100V|RASA3_ENST00000389544.4_Missense_Mutation_p.R100W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	132	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCGCTCAGCCGCAGCTCCAGG	0.642000													6	21					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745886	50745886	+	Silent	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:50745886C>A	ENST00000300589.2	+	4	2169	c.2064C>A	c.(2062-2064)ggC>ggA	p.G688G		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	688					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCACTGGGGCCTGCTGGCTG	0.662000													33	211					2.42023e-17	2.60258e-17	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140952517	140952517	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140952517G>A	ENST00000277549.5	+	29	4280	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1375M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1376M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1376M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1375M|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1375M			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1375					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GAAACACTCCGTGGATGCCAC	0.557000													36	262					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34180278	34180278	+	Silent	SNP	C	C	T	rs150945646		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:34180278C>T	ENST00000262622.3	+	2	869	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CHST8_ENST00000434302.1_Silent_p.L37L|CHST8_ENST00000604556.1_Silent_p.L37L|CHST8_ENST00000438847.2_Silent_p.L37L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	37					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CTACGGAGCTCGCCCCCCAGC	0.632000													56	519					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													35	1017					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular	zinc ion binding	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338000													7	286					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36651774	36651774	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:36651774T>G	ENST00000543751.1	+	11	1002	c.857T>G	c.(856-858)cTt>cGt	p.L286R	MELK_ENST00000536987.1_Missense_Mutation_p.L187R|MELK_ENST00000298048.2_Missense_Mutation_p.L318R|MELK_ENST00000536329.1_Missense_Mutation_p.L247R|MELK_ENST00000545008.1_Missense_Mutation_p.L247R|MELK_ENST00000536860.1_Missense_Mutation_p.L270R|MELK_ENST00000541717.1_Missense_Mutation_p.L318R|MELK_ENST00000538311.1_Missense_Mutation_p.L124R	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	318						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GCTACCTATCTTCTGCTTCTA	0.418000													27	1418					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139994279	139994279	+	Missense_Mutation	SNP	G	G	A	rs138090529	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:139994279G>A	ENST00000371589.4	+	6	935	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	288					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GTTTGGCCTCGGTCTCACACT	0.582000													68	364					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70367846	70367846	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:70367846C>T	ENST00000374051.3	+	2	569	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	NLGN3_ENST00000536169.1_Missense_Mutation_p.R83C|NLGN3_ENST00000358741.3_Missense_Mutation_p.R83C	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	83					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CGGCGAGAAACGTTTCCTGCC	0.642000													26	154					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296738	28296738	+	Silent	SNP	G	G	A	rs11911960	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:28296738G>A	ENST00000284987.5	-	8	2548	c.2427C>T	c.(2425-2427)agC>agT	p.S809S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	809	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGCTCCAACCGCTATAGTTCA	0.443000													117	737					0	0	1	0	0
IGLC2	0	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													11	142					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470																		p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592000													5	77					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													7	247					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4									p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378000													6	249					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													19	240					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956774	1956774	+	Splice_Site	DEL	C	C	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:1956774delC	ENST00000378585.4	+	3	266	c.181_splice	c.e3-1	p.G61_splice		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCCTTGCAGGCCCCCCCGTGA	0.647													7	661	---	---	---	---					
EIF4G3	8672	broad.mit.edu	37	1	21226332	21226332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:21226332delT	ENST00000602326.1	-	14	2290	c.1707delA	c.(1705-1707)aafs	p.K569fs	EIF4G3_ENST00000544689.1_Frame_Shift_Del_p.K106fs|EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.K16fs|EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.K167fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.K563fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.K569fs|EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.K563fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.K283fs|EIF4G3_ENST00000374933.3_5'UTR	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	563					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGCTTTCACTTTTTTTAGGT	0.433													7	1367	---	---	---	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													9	341	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27058070	27058070	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:27058070delC	ENST00000324856.7	+	3	2149	c.1778delC	c.(1777-1779)tcfs	p.S593fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S593fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S210fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	593					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		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)		ACTGCCTATTCCCAGCAGCGC	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								119	852	---	---	---	---					
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs72406230		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685													7	316	---	---	---	---					
CYP4Z2P	0	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-	rs10712628		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2																						ATTTCAATCCAAACATAGCTG	0.393													10	246	---	---	---	---					
NDC1	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:54298190_54298192delTTA	ENST00000371429.3	-	3	849_851	c.251_253delTAA	c.(250-255)agt>a	p.IS84del	NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000480952.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTGAAAATACTTATTATTATTAT	0.305													7	196	---	---	---	---					
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(40-45)cctgct>ccCTGtgct	p.14_15PA>PCA	PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	14					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													8	21	---	---	---	---					
TNNI3K	51086	broad.mit.edu	37	1	74957824	74957826	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:74957824_74957826delCTT	ENST00000370891.2	+	25	2544_2546	c.2528_2530delCTT	c.(2527-2532)cct>c	p.PS843del	TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCTCTCACCTTCTTCTTCTTC	0.473													7	1127	---	---	---	---					
RBMXL1	494115	broad.mit.edu	37	1	89448500	89448501	+	In_Frame_Ins	INS	-	-	CAT			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:89448500_89448501insCAT	ENST00000399794.2	-	3	1724_1725	c.1009_1010insATG	c.(1009-1011)ttg>ATGttg	p.336_337insM	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.336_337insM|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	336	Ser-rich.						nucleotide binding|RNA binding										CCTGTCACAACTTGAGTAGAGA	0.500													10	1317	---	---	---	---					
BRDT	676	broad.mit.edu	37	1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:92447228_92447230delAGC	ENST00000370389.2	+	12	2623_2625	c.1699_1701delAGC	c.(1699-1701)del	p.S575del	BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419													8	595	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103355065	103355065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:103355065delT	ENST00000358392.2	-	59	4763	c.4446delA	c.(4444-4446)aafs	p.K1482fs	COL11A1_ENST00000353414.4_Frame_Shift_Del_p.K1431fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.K1354fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.K1470fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1470	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCGGTCACCTTTTTCCCCTT	0.408													7	487	---	---	---	---					
SRGAP2B	0	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													14	99	---	---	---	---					
HFE2	148738	broad.mit.edu	37	1	145415369	145415371	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:145415369_145415371delGAG	ENST00000336751.5	+	3	426_428	c.188_190delGAG	c.(187-192)cga>c	p.RG63del	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	63					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCACTTCGAGGAGGAGGAGG	0.626													7	350	---	---	---	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gac>ga	p.ED171del	MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635													8	431	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				10	421	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)del	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													11	454	---	---	---	---					
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:165712550_165712551insA	ENST00000367881.5	-	6	752		c.e6-2		TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381													12	330	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													9	381	---	---	---	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													7	473	---	---	---	---					
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:38178783delT	ENST00000407257.1	+	2	572	c.425delT	c.(424-426)atfs	p.I142fs	RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000406384.1_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs					regulator of microtubule dynamics 2																		AAGAGTGCCATTTTTTTTGAT	0.333													7	623	---	---	---	---					
CCDC88A	55704	broad.mit.edu	37	2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)atfs	p.N1003fs	AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353													8	315	---	---	---	---					
AC007092.1	0	broad.mit.edu	37	2	58688842	58688843	+	RNA	DEL	CT	CT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:58688842_58688843delCT	ENST00000452840.1	+	0	127																											TCTCTGCTAGCTCTCTCTCTCT	0.465													7	252	---	---	---	---					
USP34	9736	broad.mit.edu	37	2	61575023	61575025	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:61575023_61575025delTGG	ENST00000398571.2	-	15	2341_2343	c.2265_2267delCCA	c.(2263-2268)cat>ca	p.HH759del		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	759					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtggt	0.389													7	441	---	---	---	---					
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)del	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													10	927	---	---	---	---					
WBP1	23559	broad.mit.edu	37	2	74687542	74687543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:74687542_74687543insC	ENST00000393972.3	+	5	849_850	c.646_647insC	c.(646-648)cccfs	p.P216fs	WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	182							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCACCAGAGTGCCCCCCCTCAT	0.604													9	677	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													23	37	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148657137	148657138	+	Splice_Site	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:148657137_148657138insT	ENST00000241416.7	+	3	1009		c.e3+1		ACVR2A_ENST00000535787.1_Splice_Site|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Splice_Site	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA						activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTCACACAGCGTAAGTTCACAG	0.366													179	1099	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179638797	179638797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:179638797delT	ENST00000589042.1	-	31	7322	c.7098delA	c.(7096-7098)aafs	p.K2366fs	TTN_ENST00000591111.1_Frame_Shift_Del_p.K2366fs|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.K2366fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.K2320fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.K2366fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.K2320fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K2320fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2088	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCACAGACTTTTTGGTCAC	0.428													7	731	---	---	---	---					
SLC39A10	57181	broad.mit.edu	37	2	196544942	196544942	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:196544942delA	ENST00000409086.3	+	2	451	c.176delA	c.(175-177)gafs	p.E59fs	SLC39A10_ENST00000359634.5_Frame_Shift_Del_p.E59fs|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	59					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCTGAAAATGAAAAAAAATAC	0.378													7	364	---	---	---	---					
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)cafs	p.Q299fs	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348													8	466	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)agg>ag	p.RK307del	SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	307					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.650													7	370	---	---	---	---					
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgg>cg	p.RE218del	EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	218							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547													9	538	---	---	---	---					
SATB1	6304	broad.mit.edu	37	3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)del	p.Q607del	SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606													8	135	---	---	---	---					
RBM15B	29890	broad.mit.edu	37	3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-	rs147738916	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggc>gg	p.GH664del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	664	His-rich.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635													8	251	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)del	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													10	305	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gca>gc	p.AA180del	TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													13	283	---	---	---	---					
RP11-167H9.4	0	broad.mit.edu	37	3	149769296	149769296	+	RNA	DEL	C	C	-	rs59377959		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:149769296delC	ENST00000487840.1	+	0	46																											TTCCTGGTGTCtttttttttt	0.463													9	391	---	---	---	---					
RP11-3P17.4	0	broad.mit.edu	37	3	161147309	161147309	+	RNA	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:161147309delT	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CAACACTGCCTTCTTGGCCTT	0.547													9	638	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													14	42	---	---	---	---					
GRK4	2868	broad.mit.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:3015470delA	ENST00000398052.4	+	8	999	c.656delA	c.(655-657)cafs	p.Q219fs	GRK4_ENST00000504933.1_Frame_Shift_Del_p.Q219fs|GRK4_ENST00000398051.4_Frame_Shift_Del_p.Q187fs|GRK4_ENST00000345167.6_Frame_Shift_Del_p.Q187fs	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	219	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393													23	1028	---	---	---	---					
LIAS	11019	broad.mit.edu	37	4	39462464	39462464	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:39462464delA	ENST00000261434.3	+	2	218	c.100delA	c.(100-102)aafs	p.K36fs	LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	36					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CTTGCCAGATAAAAAAAAGGA	0.393													9	945	---	---	---	---					
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:105412465_105412467delGCC	ENST00000394767.2	-	2	943_945	c.493_495delGGC	c.(493-495)del	p.G165del	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	0	Interaction with DVL1 (By similarity).				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													8	485	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	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													8	279	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													7	425	---	---	---	---					
ETFDH	2110	broad.mit.edu	37	4	159618709	159618709	+	Splice_Site	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:159618709delA	ENST00000511912.1	+	8	1163		c.e8-1		ETFDH_ENST00000307738.5_Splice_Site	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase						fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTTTTTTTTAGTTATGGGTT	0.348													7	449	---	---	---	---					
CLCN3	0	broad.mit.edu	37	4	170618538	170618538	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:170618538delT	ENST00000513761.1	+	9	1775	c.1216delT	c.(1216-1218)ttfs	p.F407fs	CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	407					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTGGGGAGCCTTTTTCATTAG	0.438													8	1141	---	---	---	---					
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaa>ga	p.EE196del	HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del			P26583	HMGB2_HUMAN	high mobility group box 2	196	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468													7	500	---	---	---	---					
SORBS2	8470	broad.mit.edu	37	4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:186544620_186544622delGGT	ENST00000431808.1	-	14	2512_2514	c.1949_1951delACC	c.(1948-1953)cgc>c	p.HR650del	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	650	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATGAggtggcggtggtggtggtg	0.522													10	426	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													22	813	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)del	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527													7	818	---	---	---	---					
GTF2H2B	0	broad.mit.edu	37	5	69730714	69730715	+	RNA	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:69730714_69730715insT	ENST00000513202.1	+	0	753					NR_033417.1																						CTATGAAGGTGTTTTTTTTTCC	0.322													9	255	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													13	1308	---	---	---	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													8	254	---	---	---	---					
GABBR1	0	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													7	374	---	---	---	---					
ZNRD1-AS1	0	broad.mit.edu	37	6	29977299	29977300	+	RNA	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:29977299_29977300insT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							GTTCATGAATATTTTTTCTATA	0.441													7	287	---	---	---	---					
RNF39	80352	broad.mit.edu	37	6	30040952	30040952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:30040952delT	ENST00000244360.6	-	3	761	c.664delA	c.(664-666)tgfs	p.M222fs	RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY.					cytoplasm	zinc ion binding										CTATGAAGCATTTTTTTGACC	0.408													9	564	---	---	---	---					
HCG17	0	broad.mit.edu	37	6	30228713	30228713	+	RNA	DEL	G	G	-	rs113639903		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:30228713delG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							CTCACACTCAGTGTGTCCGTG	0.577													7	7	---	---	---	---					
SLC22A7	10864	broad.mit.edu	37	6	43269953	43269955	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:43269953_43269955delCTC	ENST00000372585.5	+	8	1172_1174	c.1077_1079delCTC	c.(1075-1080)ttc>tt	p.FS359del	SLC22A7_ENST00000372574.3_In_Frame_Del_p.FS357del|SLC22A7_ENST00000372589.3_In_Frame_Del_p.FS357del	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	359						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GAGTGAACTTCTCCTATTACGGC	0.562													39	292	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCG	rs72369323		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:43970503_43970504insGCG	ENST00000336600.5	+	4	389_390	c.369_370insGCG	c.(367-372)cgcggc>cgGCGcggc	p.123_124insR	RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	123										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777													7	43	---	---	---	---					
GSTA1	2938	broad.mit.edu	37	6	52664097	52664100	+	Splice_Site	DEL	TGAA	TGAA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:52664097_52664100delTGAA	ENST00000334575.5	-	2	126		c.e2-2			NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	TCTCTAAGCCtgaatgaatgaatg	0.431													7	243	---	---	---	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													8	430	---	---	---	---					
UTRN	7402	broad.mit.edu	37	6	144769847	144769849	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:144769847_144769849delCCT	ENST00000367545.3	+	16	2014_2016	c.2014_2016delCCT	c.(2014-2016)del	p.P677del		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	677	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.P672H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGGAACTGCCTCCTCCTCCTC	0.409													10	372	---	---	---	---					
UTRN	7402	broad.mit.edu	37	6	144782471	144782471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:144782471delA	ENST00000367545.3	+	21	2846	c.2846delA	c.(2845-2847)gafs	p.E949fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	949					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCTGCAAGAAAAAAAGGTA	0.348													7	784	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6771664	6771664	+	RNA	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:6771664delT	ENST00000486256.1	+	0	619					NR_002217.1																						GGATTCCTACttttttttttc	0.413													12	307	---	---	---	---					
GLCCI1	113263	broad.mit.edu	37	7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)del	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.									endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562													7	1635	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)atfs	p.I78fs	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													9	846	---	---	---	---					
CCT6P3	0	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													10	56	---	---	---	---					
PMS2P4	0	broad.mit.edu	37	7	66762432	66762432	+	RNA	DEL	G	G	-	rs60169909		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:66762432delG	ENST00000414507.1	-	0	184																											gtctcaaaaagaaaaaaaaaa	0.408													11	73	---	---	---	---					
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885					NR_002164.1																						ATACCACCCCCGGGGCATGCCA	0.505													9	89	---	---	---	---					
PMS2P3	0	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:75142142delA	ENST00000418756.1	-	0	991					NR_028059.1															lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													15	28	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91671392	91671393	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:91671392_91671393delAG	ENST00000359028.2	+	20	5211_5212	c.4986_4987delAG	c.(4984-4989)tcagfs	p.SE1662fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1662					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCTGGTTTCAGAGAGAGAGAG	0.411			T	BRAF	papillary thyroid								7	279	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:114271580_114271582delCAG	ENST00000393500.3	+	12	1192		c.e12-1		FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													8	44	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142479817	142479817	+	RNA	DEL	G	G	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:142479817delG	ENST00000603901.1	+	0	40					NR_001296.3																						TGCTTGTTAAGGATTTCTAAC	0.557													10	353	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3																						ACCCACATTTCTACTTTCTTTAT	0.517													17	266	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7191540	7191541	+	RNA	DEL	CA	CA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703																											GGGGTGcacgcacacacacaca	0.530													14	213	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aafs	p.K1129fs	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	1121	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													12	922	---	---	---	---					
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:86129664delT	ENST00000417663.2	-	2	136	c.65delA	c.(64-66)acfs	p.N22fs	C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													8	723	---	---	---	---					
RUNX1T1	862	broad.mit.edu	37	8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aafs	p.K404fs	RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	404					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCGCCACCTTTTTTTAAGT	0.517													7	753	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaaaggfs	p.R2121fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381													9	662	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			11	574	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18680350	18680350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:18680350delG	ENST00000380548.4	+	11	1516	c.1177delG	c.(1177-1179)ggfs	p.G395fs	ADAMTSL1_ENST00000380566.4_Frame_Shift_Del_p.G378fs|ADAMTSL1_ENST00000276935.6_Frame_Shift_Del_p.G395fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Del_p.G395fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	395	TSP type-1 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCTCGTGTGGGGGGGGCAT	0.587													10	231	---	---	---	---					
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)ggfs	p.R298fs	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL								9	1166	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)del	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.670													9	133	---	---	---	---					
RP11-204M4.2	0	broad.mit.edu	37	9	41962602	41962602	+	RNA	DEL	G	G	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373													8	298	---	---	---	---					
PGM5P2	0	broad.mit.edu	37	9	69082095	69082095	+	RNA	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:69082095delA	ENST00000591037.1	-	0	1444					NR_002836.2																						TTGAAATATCAATTTTATTTT	0.299													8	157	---	---	---	---					
COL27A1	85301	broad.mit.edu	37	9	116918267	116918269	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:116918267_116918269delGCG	ENST00000356083.3	+	1	428_430	c.37_39delGCG	c.(37-39)del	p.A18del		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	18					cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ccgaggcacagcggcggcggcgg	0.768													7	121	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													11	250	---	---	---	---					
TTF1	7270	broad.mit.edu	37	9	135277388	135277388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:135277388delT	ENST00000334270.2	-	2	860	c.821delA	c.(820-822)agfs	p.K274fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	274	Poly-Lys.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTCTTAGACTTTTTTTTGTG	0.473													8	718	---	---	---	---					
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaa>ga	p.EE620del	TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	620	Glu-rich.				sensory perception of sound	stereocilium		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596													7	126	---	---	---	---					
THNSL1	79896	broad.mit.edu	37	10	25313368	25313368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:25313368delT	ENST00000524413.1	+	3	1563	c.1216delT	c.(1216-1218)ttfs	p.F407fs	THNSL1_ENST00000376356.4_Frame_Shift_Del_p.F407fs			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	407					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TGTGGTTGCATTTTTTCCTGA	0.378													8	675	---	---	---	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													12	39	---	---	---	---					
VPS26A	9559	broad.mit.edu	37	10	70892669	70892669	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:70892669delT	ENST00000373382.1	+	3	672	c.19delT	c.(19-21)ttfs	p.F8fs	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000546041.1_5'UTR|VPS26A_ENST00000489794.1_5'UTR|VPS26A_ENST00000263559.6_Frame_Shift_Del_p.F8fs|VPS26A_ENST00000395098.1_Frame_Shift_Del_p.F8fs|VPS26A_ENST00000541711.1_5'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	8					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TCTTGGAGGCTTTTTTGGTCC	0.308													7	499	---	---	---	---					
TNKS2	80351	broad.mit.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1857)aaafs	p.K619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391													12	294	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													9	755	---	---	---	---					
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcc>g	p.AS187del	LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	187	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.650													9	1025	---	---	---	---					
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr10:103919000_103919002delAGC	ENST00000405356.1	+	6	893_895	c.658_660delAGC	c.(658-660)del	p.S227del	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517													14	1060	---	---	---	---					
TSPAN4	0	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)del	p.L92del	TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													8	532	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)gtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517													7	1309	---	---	---	---					
SLC22A9	114571	broad.mit.edu	37	11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-993)gcafs	p.A331fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	331					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGAGGCAGCACAAAAAAAAA	0.406													10	785	---	---	---	---					
KDM2A	22992	broad.mit.edu	37	11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)del	p.E866del	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ggaggaggaagaggaggaggagg	0.655													13	214	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													11	658	---	---	---	---					
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aafs	p.K71fs	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AACTGAAGATAAAAAAAAATG	0.403													12	456	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149356	119149358	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:119149356_119149358delATG	ENST00000264033.4	+	9	1740_1742	c.1364_1366delATG	c.(1363-1368)tat>t	p.YD455del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	455	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCCCAAATTATGATGATGATGA	0.473			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				9	360	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	RNA	INS	-	-	AAC	rs112328257	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:13174141_13174142insAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.550													23	33	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)afs	p.E611fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GGTTCTCCTTTCTCTCTCTCTC	0.446													18	965	---	---	---	---					
ASIC1	41	broad.mit.edu	37	12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	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													8	364	---	---	---	---					
CBX5	23468	broad.mit.edu	37	12	54645832	54645832	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:54645832delT	ENST00000209875.4	-	3	453	c.317delA	c.(316-318)agfs	p.K106fs	CBX5_ENST00000439541.2_Frame_Shift_Del_p.K106fs|CBX5_ENST00000550411.1_Frame_Shift_Del_p.K106fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	106					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TACCTCTCTCTTTTTTTTAGA	0.323													7	1131	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812693	122812694	+	Frame_Shift_Ins	INS	-	-	T	rs77289752		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:122812693_122812694insT	ENST00000358808.2	-	16	3170_3171	c.3016_3017insA	c.(3016-3018)aagfs	p.K1006fs	CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1017					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTTGTGGCTTGTTTCCATTTTC	0.505													9	1153	---	---	---	---					
SBNO1	55206	broad.mit.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:123794283delT	ENST00000420886.2	-	25	3415	c.3416delA	c.(3415-3417)atfs	p.N1139fs	SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139							ATP binding|DNA binding|hydrolase activity	p.N1138fs*9(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388													9	623	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312													7	99	---	---	---	---					
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	RNA	INS	-	-	GTCCC	rs60511353		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225																											CCAACTCAGCAGAACAGTGTCA	0.505													10	82	---	---	---	---					
AE000661.37	0	broad.mit.edu	37	14	22892202	22892202	+	RNA	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:22892202delA	ENST00000514473.2	-	0	225				AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000545670.1_RNA																							ctaaaaatacaaaaaaaaaaa	0.547													7	43	---	---	---	---					
IL25	0	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													10	603	---	---	---	---					
MDGA2	161357	broad.mit.edu	37	14	47342704	47342704	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:47342704delT	ENST00000426342.1	-	14	2536	c.1790delA	c.(1789-1791)acfs	p.N597fs	MDGA2_ENST00000357362.3_Frame_Shift_Del_p.N597fs|MDGA2_ENST00000399232.2_Frame_Shift_Del_p.N895fs|MDGA2_ENST00000399222.3_Frame_Shift_Del_p.N28fs|MDGA2_ENST00000439988.2_Frame_Shift_Del_p.N826fs	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	826	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCATAAGGGTTTTTGGGAGC	0.388													7	783	---	---	---	---					
FBXO34	55030	broad.mit.edu	37	14	55818554	55818555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:55818554_55818555insT	ENST00000313833.4	+	2	1691_1692	c.1446_1447insT	c.(1444-1449)ttttttfs	p.FF482fs	FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.FF482fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	482										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGGGATGTTGTTTTTTTTGCC	0.441													8	751	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													13	733	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)del	p.A856del	BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													8	283	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gga>g	p.EG89del	DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													12	908	---	---	---	---					
CHEK2P2	0	broad.mit.edu	37	15	20490739	20490739	+	RNA	DEL	G	G	-	rs143465906		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:20490739delG	ENST00000555186.1	+	0	568					NR_038836.1																						GTTACAACCTGtttttttttt	0.423													9	456	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25481200	25481201	+	RNA	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:25481200_25481201insT	ENST00000453082.2	+	0	1934					NR_003343.1																						TCCACTGGAAGTTTTTTTTGCG	0.510													9	1054	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42003383	42003385	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:42003383_42003385delCAG	ENST00000219905.7	+	8	3101_3103	c.2920_2922delCAG	c.(2920-2922)del	p.Q981del	MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000389936.4_In_Frame_Del_p.Q981del	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	981	Gln-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCGGCAGGCACAGCAGCAGCAGC	0.458													7	458	---	---	---	---					
NARG2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)tcfs	p.F382fs	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338													11	297	---	---	---	---					
MTFMT	123263	broad.mit.edu	37	15	65312612	65312613	+	Splice_Site	INS	-	-	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:65312612_65312613insA	ENST00000220058.4	-	5	659		c.e5-2			NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase							mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TGAAATGAGCTACAAAAAAAAA	0.381													9	62	---	---	---	---					
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-	rs141710149		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gcc>gc	p.AS531del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	532	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.640													7	167	---	---	---	---					
CSPG4P5	0	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													9	103	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)del	p.E392del	TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611													13	410	---	---	---	---					
ITGAL	0	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													11	914	---	---	---	---					
RP11-19N8.4	0	broad.mit.edu	37	16	33070215	33070216	+	RNA	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:33070215_33070216insT	ENST00000561541.1	-	0	291																											TTTGCCCCCCCGTCGCCGCGGC	0.604													9	41	---	---	---	---					
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													9	62	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													8	304	---	---	---	---					
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:67693646_67693648delGCA	ENST00000219251.8	-	3	873_875	c.542_544delTGC	c.(541-546)cag>c	p.LQ181del	ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.650													7	648	---	---	---	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:69726420_69726422delCAG	ENST00000349945.1	+	14	3962_3964	c.2410_2412delCAG	c.(2410-2412)del	p.Q812del	NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													8	389	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:72822564_72822566delTGC	ENST00000268489.5	-	10	10281_10283	c.9609_9611delGCA	c.(9607-9612)caa>ca	p.QQ3203del	ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3203	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cacctgtggttgctgctgctgct	0.650													17	768	---	---	---	---					
ADAMTS18	170692	broad.mit.edu	37	16	77356310	77356311	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:77356310_77356311insA	ENST00000282849.5	-	14	2503_2504	c.2085_2086insT	c.(2083-2088)ttcaatfs	p.N696fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	696	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A696fs*18(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCGGACATTGCAAAAAAAAATT	0.406													11	562	---	---	---	---					
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(382-387)aaaaaafs	p.KK128fs	TCF25_ENST00000563406.1_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	128					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446													9	165	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:8415820_8415822delTTC	ENST00000360416.3	-	24	3037_3039	c.2899_2901delGAA	c.(2899-2901)del	p.E967del	MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.350													8	301	---	---	---	---					
CCDC144B	0	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	-	A	rs66528329		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:18498059_18498060insA	ENST00000442583.1	-	0	898_899																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													18	88	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaa>ga	p.EE840del	GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616													8	304	---	---	---	---					
GGNBP2	79893	broad.mit.edu	37	17	34943645	34943645	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:34943645delA	ENST00000304718.4	+	13	2176	c.1860delA	c.(1858-1860)ggfs	p.G620fs		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	620					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCGATTCCGGAAAAGGTGCCA	0.468													7	1140	---	---	---	---					
SOCS7	30837	broad.mit.edu	37	17	36508662	36508663	+	In_Frame_Ins	INS	-	-	AGC	rs55849419		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:36508662_36508663insAGC	ENST00000577233.1	+	1	535_536	c.535_536insAGC	c.(535-537)gca>AGCgca	p.178_179insS	SOCS7_ENST00000331159.5_In_Frame_Ins_p.178_179insS	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	178	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding	p.Q187delQ(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GAGTAGAGGGGagcagcagcag	0.703													8	9	---	---	---	---					
SLC4A1	6521	broad.mit.edu	37	17	42330701	42330701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:42330701delC	ENST00000262418.6	-	17	2251	c.2096delG	c.(2095-2097)gcfs	p.G699fs		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	699	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAAGCCGGAGCCCTTGACCAT	0.637													47	254	---	---	---	---					
HOXB2	3212	broad.mit.edu	37	17	46622130	46622132	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:46622130_46622132delAGG	ENST00000330070.4	-	1	1309_1311	c.142_144delCCT	c.(142-144)del	p.P48del	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	48					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TTTGCTCGAAAGGAGGAGGAGGA	0.596													8	431	---	---	---	---					
ABCA5	23461	broad.mit.edu	37	17	67302911	67302912	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:67302911_67302912insT	ENST00000392676.3	-	6	806_807	c.742_743insA	c.(742-744)aaafs	p.K248fs	ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.K248fs|ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.K248fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.I248L(1)|p.I248fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAATTCTTTTATTTTTTTTTCT	0.243													9	202	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)del	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													8	397	---	---	---	---					
SMAD4	4089	broad.mit.edu	37	18	48591977	48591978	+	Splice_Site	DEL	GT	GT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr18:48591977_48591978delGT	ENST00000342988.3	+	9	1677		c.e9+1		SMAD4_ENST00000588745.1_Splice_Site|SMAD4_ENST00000398417.2_Splice_Site	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4						BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGAGAGCAAGGTATTGATTGTA	0.371													35	250	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)tgfs	p.M718fs	DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs|DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													8	914	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:35940788_35940790delCTG	ENST00000599180.1	+	2	252_254	c.172_174delCTG	c.(172-174)del	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													9	262	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													7	1230	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43440068	43440069	+	RNA	DEL	AC	AC	-	rs72310923		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:43440068_43440069delAC	ENST00000406070.2	-	0	161				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				acacacacaaacacacacacac	0.495													7	231	---	---	---	---					
PLAUR	5329	broad.mit.edu	37	19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:44174235_44174237delAGC	ENST00000221264.4	-	1	462_464	c.36_38delGCT	c.(34-39)ctc>ct	p.LL12del	PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.660													12	1101	---	---	---	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ccc>c	p.LP8del	SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													19	453	---	---	---	---					
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:58084579delA	ENST00000196489.3	-	4	915	c.693delT	c.(691-693)ttfs	p.F231fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453													10	1253	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383													12	102	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29624034	29624035	+	Frame_Shift_Ins	INS	-	-	G	rs73621649		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:29624034_29624035insG	ENST00000439954.2	+	4	419_420	c.73_74insG	c.(73-75)tgafs	p.*25fs	FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000278882.3_Intron																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTCTCCAATATTGATGAGGGC	0.287													8	96	---	---	---	---					
FRG1B	0	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gca>gc	p.AG104del	FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del|FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355													9	575	---	---	---	---					
ZMYND8	23613	broad.mit.edu	37	20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)agfs	p.K635fs	ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGGCTTGGGCTTTTTTTTAAC	0.488													7	1231	---	---	---	---					
MYT1	4661	broad.mit.edu	37	20	62839333	62839335	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:62839333_62839335delGAG	ENST00000536311.1	+	7	1148_1150	c.784_786delGAG	c.(784-786)del	p.E273del	MYT1_ENST00000328439.1_In_Frame_Del_p.E273del|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	273	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggacgaggaggaggagg	0.596													8	108	---	---	---	---					
LINC00478	0	broad.mit.edu	37	21	17443416	17443417	+	RNA	DEL	TG	TG	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:17443416_17443417delTG	ENST00000458468.1	+	0	27					NR_027790.1																						TTTTTCTTTTTGTGTGTGTGTG	0.431													7	844	---	---	---	---					
U2AF1	7307	broad.mit.edu	37	21	44513281	44513282	+	In_Frame_Ins	INS	-	-	CCG	rs144595259		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:44513281_44513282insCCG	ENST00000459639.1	-	7	1458_1459	c.434_435insCGG	c.(433-435)ggg>gCGGgg	p.144_145insA	U2AF1_ENST00000380276.2_In_Frame_Ins_p.217_218insA|U2AF1_ENST00000398137.1_In_Frame_Ins_p.144_145insA|U2AF1_ENST00000291552.4_In_Frame_Ins_p.217_218insA			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	217	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cgccacctccaccaccgccacc	0.574			Mis		"""CLL, MDS"""								8	380	---	---	---	---					
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A	rs149217788	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(397-402)aaaaaafs	p.KK133fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	133					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356													8	633	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													7	48	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													9	82	---	---	---	---					
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664078	22664079	+	RNA	DEL	TT	TT	-	rs114253646	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:22664078_22664079delTT	ENST00000426066.1	+	0	623					NR_027293.1																						TGTGTGTGTGTTTTTATCTTGC	0.381													12	468	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													11	68	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcg>gc	p.AL139del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	139	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													7	325	---	---	---	---					
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)ttfs	p.F527fs	RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333													7	2836	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													11	788	---	---	---	---					
TSIX	0	broad.mit.edu	37	X	73046080	73046080	+	RNA	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:73046080delT	ENST00000604411.1	+	0	34041				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGCCTGGCACTTTTTTTTCCC	0.423													9	667	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaa>ga	p.EE1463del	ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1463	Poly-Glu.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						7	821	---	---	---	---					
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)act>a	p.ST50del	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586													7	226	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													8	1395	---	---	---	---					
TRPC5	7224	broad.mit.edu	37	X	111078297	111078297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:111078297delA	ENST00000262839.2	-	7	2666	c.1748delT	c.(1747-1749)tafs	p.L583fs		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	583					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATATAGATTTAAAAGGCCAAA	0.403													7	2142	---	---	---	---					
NKAP	79576	broad.mit.edu	37	X	119072752	119072753	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:119072752_119072753delTC	ENST00000371410.3	-	2	573_574	c.407_408delGA	c.(406-408)afs	p.R136fs		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	136					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATTCTCCAATTCTCTCTCTCTC	0.322													8	725	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctg>ct	p.LQ596del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	596	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													13	673	---	---	---	---					
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													8	931	---	---	---	---