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
HAUS6	54801	broad.mit.edu	37	9	19060130	19060130	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:19060130G>A	ENST00000380502.3	-	15	2188	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	HAUS6_ENST00000380496.1_Missense_Mutation_p.P438L	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	574					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTTAAGAAGGGGTTAGAACC	0.373000													5	44					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102445654	102445654	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:102445654A>T	ENST00000360184.4	+	3	508		c.e3-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTTCTTTTTAGCTTGGCATT	0.358000													8	433					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69173558	69173558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:69173558C>T	ENST00000481498.1	-	5	368	c.350G>A	c.(349-351)tGg>tAg	p.W117*	GKN2_ENST00000328895.4_Nonsense_Mutation_p.W117*			Q86XP6	GKN2_HUMAN	gastrokine 2	117	BRICHOS.					extracellular region		p.W117L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						GTACTTGACCCAGGTGTATTT	0.403000													4	229					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5209271	5209271	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:5209271A>T	ENST00000274181.7	+	10	1655	c.1517A>T	c.(1516-1518)aAa>aTa	p.K506I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	506	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K506I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TATCCTGAGAAATTGCCAGGA	0.448000													19	497					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874693	24874693	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:24874693A>T	ENST00000396432.2	-	26	5011	c.4525T>A	c.(4525-4527)Tca>Aca	p.S1509T		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTGTTTTGAGTTGTGTGGT	0.488000													8	844					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120576613	120576613	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:120576613C>A	ENST00000300648.6	-	46	6054	c.6042G>T	c.(6040-6042)ttG>ttT	p.L2014F		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2014					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGTCACACAAAGCCTTCC	0.547000													26	949					3.08376e-08	3.47803e-08	1	1	0
CBLC	23624	broad.mit.edu	37	19	45284600	45284600	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:45284600G>C	ENST00000270279.3	+	3	700	c.637G>C	c.(637-639)Gtc>Ctc	p.V213L	CBLC_ENST00000341505.4_Missense_Mutation_p.V213L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	213	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.V213L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGAGTTCGACGTCTTCACCAG	0.612000			M		AML								52	34					0	0	1	0	0
RAB7L1	8934	broad.mit.edu	37	1	205741655	205741655	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:205741655C>G	ENST00000367139.3	-	3	468	c.165G>C	c.(163-165)gaG>gaC	p.E55D	RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E55D|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E55D	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	55					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCCGCACTATCTCGTAGTCAG	0.363000													4	496					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869499	234869499	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:234869499G>A	ENST00000324695.4	+	12	1482	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	TRPM8_ENST00000433712.2_Missense_Mutation_p.G169D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	481						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGAGAATGGCTTGAACCTA	0.478000													5	494					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793248	53793248	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:53793248T>C	ENST00000426466.1	-	1	1627	c.380A>G	c.(379-381)gAc>gGc	p.D127G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	127					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTTCTTAACGTCCTTGAAATC	0.383000													4	212					0	0	1	0	0
LIX1L	128077	broad.mit.edu	37	1	145492240	145492240	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145492240C>T	ENST00000369308.3	+	3	536	c.462C>T	c.(460-462)tgC>tgT	p.C154C	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	154										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTAGTTTTGCCCCACAAAAG	0.448000													4	392					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	884397	884397	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:884397T>C	ENST00000314167.4	-	10	1114	c.1004A>G	c.(1003-1005)aAt>aGt	p.N335S	GAK_ENST00000511163.1_Missense_Mutation_p.N256S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	335					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTAGCCTCCATTCTGCTCCAG	0.632000													2	4					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143297454	143297454	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:143297454C>A	ENST00000316549.6	-	7	1075	c.867G>T	c.(865-867)ggG>ggT	p.G289G		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	289					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G289G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATACGCAGACCCCATTGCAA	0.458000													33	357					3.78316e-11	4.34623e-11	1	1	0
BICD1	636	broad.mit.edu	37	12	32369279	32369279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:32369279C>A	ENST00000548411.1	+	2	493	c.312C>A	c.(310-312)taC>taA	p.Y104*	BICD1_ENST00000281474.5_Nonsense_Mutation_p.Y104*	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	104					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGGAGGCTTACTATCTGGGGA	0.547000													10	188					0.000442599	0.000467188	1	1	0
COPS4	51138	broad.mit.edu	37	4	83970374	83970374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:83970374C>A	ENST00000509093.1	+	3	988	c.210C>A	c.(208-210)tgC>tgA	p.C70*	COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000264389.2_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70*	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	70					cullin deneddylation	cytoplasm|signalosome	protein binding	p.C70*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CTGATTTTTGCACACATCTTC	0.383000													18	62					1.50039e-11	1.73176e-11	1	1	0
OR52A1	23538	broad.mit.edu	37	11	5172907	5172907	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:5172907C>A	ENST00000380367.1	-	2	1110	c.693G>T	c.(691-693)ttG>ttT	p.L231F	OR52A1_ENST00000328942.1_Missense_Mutation_p.L231F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	231					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCTGGGGCAAACGAAAAA	0.428000													15	199					0.00316338	0.00326927	1	1	0
KLRB1	3820	broad.mit.edu	37	12	9747902	9747902	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:9747902G>T	ENST00000229402.3	-	6	692	c.646C>A	c.(646-648)Cct>Act	p.P216T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	216					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						TTTCTCACAGGTGTTAGTTCT	0.373000													8	283					1.06961e-07	1.19545e-07	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2876174	2876174	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:2876174T>A	ENST00000602557.1	-	53	8414		c.e53-2		CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACGAGATAACTAGAAGGAAAA	0.378000													6	123					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82905759	82905759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:82905759C>T	ENST00000393389.3	+	1	979	c.47C>T	c.(46-48)aCt>aTt	p.T16I	ANKRD42_ENST00000393392.2_Missense_Mutation_p.T16I|ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I|ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	16								p.T16I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTAGGGAGACTGCAAACCCC	0.572000													27	79					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650730	232650730	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:232650730C>G	ENST00000366630.1	-	2	714	c.356G>C	c.(355-357)aGt>aCt	p.S119T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	119					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S119T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTCTGGTCACTCTGCCCATT	0.502000													45	185					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303000													4	77					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623839	623839	+	Silent	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:623839A>T	ENST00000262109.7	-	4	590	c.513T>A	c.(511-513)atT>atA	p.I171I	ERICH1_ENST00000522706.1_Silent_p.I77I	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTTCCTTTTAATTTGCTGTT	0.473000													5	48					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9424626	9424626	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:9424626A>T	ENST00000378501.2	+	27	2743		c.e27-1		PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGTTTGTTTAGGTATTGAAC	0.308000													6	144					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTCTTGGTTACTTGCTGAAT	0.458000													8	459					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222940	140222940	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140222940G>A	ENST00000531613.1	+	1	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A678A|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAAAAGCGTCATCGAGGC	0.632000													3	48					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253832	55253832	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:55253832T>G	ENST00000337526.6	-	3	1646	c.1403A>C	c.(1402-1404)aAc>aCc	p.N468T	RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	468					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.N262T(1)|p.N468T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTGCTGGGTTAAAGGGAGC	0.378000													11	158					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132522	58132522	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:58132522G>T	ENST00000396161.5	+	3	1345	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	345						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		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;0.0265)		AGCCGTTTGAGTGCATTGAAT	0.428000													5	432					0.000602214	0.000627624	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	74					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32910986	32910986	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:32910986G>A	ENST00000544455.1	+	11	2721	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E832K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	832	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.E832K(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAAACGTTGAGCTGTTGCC	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			7	51					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33840085	33840085	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:33840085C>T	ENST00000300255.2	+	4	1036	c.563C>T	c.(562-564)tCt>tTt	p.S188F	EVA1C_ENST00000382699.3_Missense_Mutation_p.S188F|EVA1C_ENST00000401402.3_Missense_Mutation_p.S188F	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		AACATCTACTCTGCGACCTAC	0.483000													6	105					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site					TOPBP1-interacting checkpoint and replication regulator																		GTTTTATTTTAGTTGTGGGAA	0.398000													4	144					0	0	1	0	0
CCDC122	160857	broad.mit.edu	37	13	44433878	44433878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:44433878A>T	ENST00000444614.3	-	5	743	c.485T>A	c.(484-486)tTa>tAa	p.L162*	CCDC122_ENST00000281508.3_Nonsense_Mutation_p.L162*|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	162										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		CATTGTCTTTAATTTTTTAAC	0.318000													4	74					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766201	13766201	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:13766201G>A	ENST00000265104.4	-	59	10089	c.9985C>T	c.(9985-9987)Ctg>Ttg	p.L3329L	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3329	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTGAAACAGCAGCAGTACG	0.517000									Kartagener syndrome				4	273					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	251					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74659521	74659521	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:74659521C>T	ENST00000253159.8	+	27	5019	c.4821C>T	c.(4819-4821)ggC>ggT	p.G1607G	ZNF236_ENST00000320610.9_Silent_p.G1609G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1607					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCTCTCGGGCCAGGGTGGAG	0.507000													4	296					0	0	1	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182372	82182372	+	Silent	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:82182372A>T	ENST00000258169.4	-	5	497	c.447T>A	c.(445-447)atT>atA	p.I149I	MPHOSPH6_ENST00000563504.1_Silent_p.I120I	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	149					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTTGCTTTAATTGGTGTTA	0.453000													8	278					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67302932	67302932	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:67302932A>T	ENST00000392676.3	-	6	786	c.722T>A	c.(721-723)gTa>gAa	p.V241E	ABCA5_ENST00000392677.2_Missense_Mutation_p.V241E|ABCA5_ENST00000588877.1_Missense_Mutation_p.V241E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	241					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			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)					TTTTTCTGCTACGATATGAAT	0.269000													6	44					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167893	140167893	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140167893G>A	ENST00000504120.2	+	1	2018	c.2018G>A	c.(2017-2019)gGc>gAc	p.G673D	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGAGCGGCCAGGCGCCA	0.657000													3	24					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14982971	14982971	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:14982971G>A	ENST00000287667.7	+	29	3514	c.3343G>A	c.(3343-3345)Gac>Aac	p.D1115N		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1115						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGTGCTTCTGGACTCCACACT	0.433000													17	1646					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448000													11	527					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65746286	65746286	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:65746286G>A	ENST00000312397.5	+	19	2377	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	762					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATGAGCTCCAGCGACACGCCC	0.672000													5	622					0	0	1	0	0
C17orf58	284018	broad.mit.edu	37	17	65989118	65989118	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:65989118T>C	ENST00000536693.1	-	1	550	c.145A>G	c.(145-147)Acc>Gcc	p.T49A	C17orf58_ENST00000334461.7_Missense_Mutation_p.T49A|C17orf58_ENST00000449250.2_Intron			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	0										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAACGGTGGTATAAAGTACA	0.498000													3	67					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565309	169565309	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:169565309G>C	ENST00000263686.6	-	12	1992	c.1955C>G	c.(1954-1956)aCc>aGc	p.T652S	SELP_ENST00000367792.2_Missense_Mutation_p.T468S|SELP_ENST00000367793.2_Missense_Mutation_p.T590S|SELP_ENST00000367794.2_Missense_Mutation_p.T590S|SELP_ENST00000367788.2_Missense_Mutation_p.T590S|SELP_ENST00000458599.2_Missense_Mutation_p.T468S|SELP_ENST00000367786.2_Missense_Mutation_p.T590S|SELP_ENST00000367791.2_Missense_Mutation_p.T466S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	652	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACAGTACATGGTTCCCTGCCC	0.502000													5	625					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42276720	42276720	+	Splice_Site	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:42276720G>T	ENST00000361204.4	+	10	1928	c.1761_splice	c.e10-1	p.G588_splice		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	588					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TACTTTGTAGGGAGATTTTGC	0.542000													5	441					0.000602214	0.000627624	1	1	0
RAB5B	5869	broad.mit.edu	37	12	56383757	56383757	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56383757C>T	ENST00000360299.5	+	3	411	c.190C>T	c.(190-192)Cta>Tta	p.L64L	RAB5B_ENST00000553116.1_Silent_p.L64L|RAB5B_ENST00000448789.2_Silent_p.L64L	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	64					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTCCGTTTGTCTAGATGACAC	0.532000													4	317					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135305	33135305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:33135305G>A	ENST00000306065.4	-	5	609	c.451C>T	c.(451-453)Cga>Tga	p.R151*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*|ANKRD27_ENST00000586693.2_5'UTR	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	151					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGTCAAATCGCTCGGAGTGT	0.493000													8	1176					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67107007	67107007	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:67107007A>T	ENST00000284425.2	-	17	2381	c.2207T>A	c.(2206-2208)tTa>tAa	p.L736*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	736					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTGTTTTTAATTTAGCATC	0.299000													4	121					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021920	5021920	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:5021920A>G	ENST00000382545.3	+	2	2483	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	459					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGATCGAAGAGGATATGAAT	0.458000													4	307					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44181832	44181832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:44181832G>A	ENST00000357199.4	-	5	607	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	WFDC8_ENST00000289953.2_Nonsense_Mutation_p.Q177*	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	177	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTGTCTGTCTGGGGACAATCG	0.473000													4	368					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69782875	69782875	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:69782875A>G	ENST00000268802.5	-	6	701	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	224						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGGGACGTCACACTGCTCCA	0.597000													4	91					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133244227	133244227	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:133244227G>A	ENST00000320574.5	-	20	2224	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C	POLE_ENST00000535270.1_Silent_p.C700C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	727					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGCTTTCCGGCAGTAATCTA	0.572000								DNA polymerases (catalytic subunits)					4	271					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18379546	18379546	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:18379546G>A	ENST00000441493.2	-	8	1502	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	MICAL3_ENST00000444520.1_Missense_Mutation_p.R384W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R384W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R384W|MICAL3_ENST00000383094.3_Missense_Mutation_p.R384W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R384W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R384W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R384W	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	384						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCTGCTCCCGCACCAAGGCG	0.562000											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	226					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15161374	15161374	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:15161374G>A	ENST00000378165.4	-	9	1218	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	NMT2_ENST00000535341.1_Missense_Mutation_p.R367W|NMT2_ENST00000540259.1_Missense_Mutation_p.R192W|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R367W	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	380					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATGTGCTCCCGGGGGAGGAAC	0.448000													8	510					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54921397	54921397	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:54921397A>G	ENST00000284061.3	+	3	662	c.482A>G	c.(481-483)aAa>aGa	p.K161R	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	161					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TGGTGCCAGAAAACAGTACAT	0.308000													4	68					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185687852	185687852	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:185687852C>A	ENST00000515030.1	-	13	1512	c.1187G>T	c.(1186-1188)aGg>aTg	p.R396M	ACSL1_ENST00000513317.1_Missense_Mutation_p.R396M|ACSL1_ENST00000437665.3_Missense_Mutation_p.R225M|ACSL1_ENST00000281455.2_Missense_Mutation_p.R396M|ACSL1_ENST00000504342.1_Missense_Mutation_p.R396M|ACSL1_ENST00000507295.1_Missense_Mutation_p.R362M|ACSL1_ENST00000454703.2_Missense_Mutation_p.R225M			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	396					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTTCTTTCCTCTTGGAGGC	0.498000													62	409					1.95512e-22	2.33292e-22	1	1	0
DBNL	28988	broad.mit.edu	37	7	44099010	44099010	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:44099010G>T	ENST00000494774.1	+	10	917	c.896G>T	c.(895-897)gGc>gTc	p.G299V	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.G204V|DBNL_ENST00000440166.1_Missense_Mutation_p.G195V|DBNL_ENST00000452943.1_Missense_Mutation_p.G274V|DBNL_ENST00000468694.1_Missense_Mutation_p.G307V|DBNL_ENST00000456905.1_Missense_Mutation_p.G250V|DBNL_ENST00000448521.1_Missense_Mutation_p.G298V	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	298					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCCACTTTGGCAGAGAGCCA	0.592000													8	64					1.26484e-09	1.43971e-09	1	1	0
JKAMP	51528	broad.mit.edu	37	14	59954452	59954452	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:59954452C>G	ENST00000554271.1	+	3	725	c.199C>G	c.(199-201)Cct>Gct	p.P67A	JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|JKAMP_ENST00000261247.9_Missense_Mutation_p.P53A|JKAMP_ENST00000557560.1_3'UTR|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A|JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	68					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	p.P61A(1)|p.P63A(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACAGAATCTCCTGAACTTTA	0.373000													155	463					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115085414	115085414	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:115085414A>T	ENST00000542447.2	-	7	1036	c.908T>A	c.(907-909)cTa>cAa	p.L303Q	CADM1_ENST00000331581.6_Missense_Mutation_p.L303Q|CADM1_ENST00000537058.1_Missense_Mutation_p.L303Q|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.L303Q|CADM1_ENST00000536727.1_Missense_Mutation_p.L303Q	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	303	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGTTTTGTTTAGGTTATTGAT	0.468000													5	254					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123540242	123540242	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:123540242C>G	ENST00000422452.2	-	26	5143	c.5080G>C	c.(5080-5082)Gat>Cat	p.D1694H	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D1687H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D1689H(1)									TTGGAAGTATCTAGCTCCACT	0.458000													6	209					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69381029	69381029	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:69381029G>A	ENST00000337103.4	+	3	1969	c.377G>A	c.(376-378)gGg>gAg	p.G126E	C8orf34_ENST00000539993.1_Missense_Mutation_p.G151E|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000348340.2_Missense_Mutation_p.G151E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G237E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	151					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGAAGCTGGGGAAAGCCCTT	0.408000													6	124					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169801269	169801269	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:169801269G>A	ENST00000263817.6	-	21	2580	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	819	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTAGCAAAGGCATATCCCTA	0.363000													4	178					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403749	47403749	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:47403749A>G	ENST00000310638.4	-	2	287	c.256T>C	c.(256-258)Tgt>Cgt	p.C86R	CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	86					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.C86R(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CAATGAGGACAGGCACTTGGG	0.493000													44	283					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57351183	57351183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:57351183G>A	ENST00000398138.3	-	1	920	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	22					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CTCAGCACCTGCCTCTCCCGG	0.587000													7	215					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61546362	61546362	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:61546362A>T	ENST00000398571.2	-	22	3190	c.3114T>A	c.(3112-3114)agT>agA	p.S1038R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1038					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)			GTTGATCTTTACTTCGAACTT	0.338000													4	94					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23465467	23465467	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:23465467G>A	ENST00000248996.4	+	3	1583	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	306						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACATCCAGCGGCAGTTTGAA	0.577000													5	444					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869551	140869551	+	Silent	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140869551T>A	ENST00000252087.1	+	1	744	c.744T>A	c.(742-744)cgT>cgA	p.R248R	PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		248	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R248R(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACGTGTGGGAATCC	0.542000													149	304					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65557820	65557820	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:65557820C>T	ENST00000304874.9	+	17	1418	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	ASL_ENST00000395332.3_Missense_Mutation_p.A439V|ASL_ENST00000380839.4_Missense_Mutation_p.A413V|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.A419V|AC068533.7_ENST00000450043.1_Intron	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	439					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGTATGGTGCCCTGGGCGGC	0.692000													5	409					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874692	24874692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:24874692G>T	ENST00000396432.2	-	26	5012	c.4526C>A	c.(4525-4527)tCa>tAa	p.S1509*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTGTGTTTTGAGTTGTGTGG	0.488000													8	845					6.5536e-12	7.59971e-12	1	1	0
GALNT18	374378	broad.mit.edu	37	11	11292739	11292739	+	Silent	SNP	C	C	T	rs140917604		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:11292739C>T	ENST00000227756.4	-	11	2187	c.1776G>A	c.(1774-1776)tcG>tcA	p.S592S		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		AGTGCTGGCCCGAGCACTTCT	0.617000													7	485					0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397067	49397067	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:49397067C>T	ENST00000548065.1	-	11	1204	c.748G>A	c.(748-750)Gca>Aca	p.A250T	RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A199T|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A166T|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A259T|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.A218T|RP11-386G11.5_ENST00000552284.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	250	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TTTTCTGCTGCCAGATTCTGG	0.493000													6	899					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74128087	74128087	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:74128087A>G	ENST00000398761.4	-	14	1435	c.1303T>C	c.(1303-1305)Ttt>Ctt	p.F435L	MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000361114.5_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L|MICU1_ENST00000398763.4_Missense_Mutation_p.F235L			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	433	EF-hand 2.				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.F435L(1)									ATGGAAACAAATTCCTTATTG	0.473000													26	155					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502000													5	474					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989907	70989907	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:70989907G>A	ENST00000256389.3	-	2	1962	c.1718C>T	c.(1717-1719)gCa>gTa	p.A573V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	523	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCACTCCTTGCATCTTGGCC	0.418000													9	909					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360160	54360160	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:54360160C>T	ENST00000361921.3	+	1	301	c.277C>T	c.(277-279)Cca>Tca	p.P93S	DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93S|DIO1_ENST00000322679.6_Missense_Mutation_p.P93S|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.P93S	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	93					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGGTCTGGCCCCAAACTGCCC	0.547000													26	192					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230381811	230381811	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:230381811C>T	ENST00000366672.4	+	8	804	c.732C>T	c.(730-732)gaC>gaT	p.D244D	GALNT2_ENST00000543760.1_Silent_p.D206D|GALNT2_ENST00000541865.1_Silent_p.D154D	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	244					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TATTTTAGGACAGGACTCGGG	0.458000													7	279					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444098	15444098	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:15444098C>T	ENST00000295297.4	+	3	825	c.566C>T	c.(565-567)aCa>aTa	p.T189I	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.T182I|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.T182I	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	182	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AACCCTGCCACAGGGAAGTTC	0.443000													5	685					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002934	58002934	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:58002934G>A	ENST00000548198.1	+	5	2547	c.1043G>A	c.(1042-1044)tGa>tAa	p.*348*	DTX3_ENST00000337737.3_Silent_p.*348*|DTX3_ENST00000551632.1_Silent_p.*351*|DTX3_ENST00000548804.1_Silent_p.*348*			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	0					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACAGATGACTGAAGGACATCG	0.592000													11	134					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ttTTCTTTTTAGGTTGTAGAC	0.398000													4	70					0	0	1	0	0
CNBP	7555	broad.mit.edu	37	3	128889301	128889301	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:128889301C>T	ENST00000422453.2	-	5	689	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	CNBP_ENST00000451728.2_Missense_Mutation_p.A178T|CNBP_ENST00000441626.2_Missense_Mutation_p.A179T|CNBP_ENST00000504813.1_Missense_Mutation_p.A167T|CNBP_ENST00000500450.2_Missense_Mutation_p.A160T|CNBP_ENST00000502976.1_Missense_Mutation_p.A170T|CNBP_ENST00000446936.2_Missense_Mutation_p.A172T	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	177					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						AATAATTAGGCTGTAGCCTCA	0.468000													7	472					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274619	238274619	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:238274619C>T	ENST00000295550.4	-	12	6012	c.5560G>A	c.(5560-5562)Gcc>Acc	p.A1854T	COL6A3_ENST00000353578.4_Missense_Mutation_p.A1648T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1247T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1654T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1648T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1653T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1854	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCTTCTGGGCCACAAAAACA	0.547000													4	146					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856668	72856668	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:72856668A>G	ENST00000339594.4	-	19	4648	c.4310T>C	c.(4309-4311)gTg>gCg	p.V1437A	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1437					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.V1437A(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAACAGAGCCACTAGACACTG	0.493000													13	138					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26492018	26492018	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:26492018G>A	ENST00000265944.5	+	34	4878	c.4712G>A	c.(4711-4713)tGt>tAt	p.C1571Y	MYO3A_ENST00000543632.1_Intron|MYO3A_ENST00000478093.1_3'UTR	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1571					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGAATCAATGTATTAAGGCT	0.318000													32	145					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147009293	147009293	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:147009293T>G	ENST00000265272.5	-	15	2359	c.1892A>C	c.(1891-1893)gAt>gCt	p.D631A	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	631						Golgi apparatus		p.D631A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTATGAGATCAGGGATGTT	0.383000													14	60					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33318709	33318709	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:33318709G>A	ENST00000373475.5	+	6	1308	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	S100PBP_ENST00000373476.1_Missense_Mutation_p.D352N	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	352						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTTGATGGATCAAGTTCA	0.488000													6	560					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76430098	76430098	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:76430098T>A	ENST00000388942.3	+	3	365	c.89T>A	c.(88-90)gTa>gAa	p.V30E		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	30						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCCAACAAGTAGACGAAGAA	0.527000													6	416					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19766760	19766760	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:19766760G>T	ENST00000329705.7	+	9	1156	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	343					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TGTCCTGAAGGACAAGGAAGT	0.537000													19	148					3.51602e-12	4.09649e-12	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5790396	5790396	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:5790396T>G	ENST00000328090.5	+	15	5637	c.5012T>G	c.(5011-5013)gTa>gGa	p.V1671G		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1671								p.V1671G(1)									ACCCATTATGTAAGACCAATA	0.468000													8	76					0	0	1	0	0
VAPB	9217	broad.mit.edu	37	20	57015985	57015985	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:57015985T>C	ENST00000475243.1	+	5	757	c.419T>C	c.(418-420)aTt>aCt	p.I140T	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	140					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	p.I140T(1)		kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			ATAAATAAAATTATATCCACA	0.338000													78	155					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966445	87966445	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:87966445T>A	ENST00000369577.3	+	8	3141	c.3098T>A	c.(3097-3099)gTg>gAg	p.V1033E	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1033					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V1033E(1)|p.V888E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCTTTTCTGTGCAAAATCAG	0.323000													14	87					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56737274	56737274	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56737274C>T	ENST00000314128.4	-	24	2478	c.2455G>A	c.(2455-2457)Ggt>Agt	p.G819S	STAT2_ENST00000557235.1_Missense_Mutation_p.G815S|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	819					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AGTGGGTCACCATTCGGCATG	0.502000													39	169					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369991	20369991	+	RNA	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:20369991T>C	ENST00000593655.1	-	0	199																											GTCATCACGGTTGAAACGAGA	0.413000													17	117					0	0	1	0	0
PSMD6	9861	broad.mit.edu	37	3	64007994	64007994	+	Splice_Site	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:64007994T>G	ENST00000492933.1	-	3	562	c.510_splice	c.e3+1	p.K170_splice	PSMD6_ENST00000482510.1_Splice_Site_p.K78_splice|PSMD6_ENST00000394431.2_Splice_Site_p.K79_splice|PSMD6_ENST00000295901.4_Splice_Site_p.K117_splice	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	p.K117N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CTCTACTCACTTTGTCACCTA	0.423000													90	219					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50680408	50680408	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:50680408G>A	ENST00000230658.7	+	2	647	c.62G>A	c.(61-63)gGc>gAc	p.G21D	ISL1_ENST00000511384.1_Missense_Mutation_p.G21D	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	21	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GTTGGTTGCGGCAATCAGATT	0.393000													4	315					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82933226	82933226	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:82933226G>T	ENST00000306270.7	-	8	1604	c.1055C>A	c.(1054-1056)aCa>aAa	p.T352K	IBTK_ENST00000510291.1_Missense_Mutation_p.T352K|IBTK_ENST00000503631.1_Missense_Mutation_p.T352K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	352					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AACACAGACTGTAGCTCCATC	0.428000													5	82					1.23904e-05	1.33643e-05	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													5	127					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152037392	152037392	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:152037392G>A	ENST00000370274.3	+	8	1048	c.854G>A	c.(853-855)gGc>gAc	p.G285D	NSDHL_ENST00000440023.1_Missense_Mutation_p.G285D	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	285					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ATCCTGACAGGCCTCAATTAT	0.532000													7	420					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50257083	50257083	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:50257083A>T	ENST00000357464.3	+	8	885		c.e8-1		PAPD5_ENST00000436909.3_Splice_Site|PAPD5_ENST00000561678.1_Splice_Site|PAPD5_ENST00000573002.1_Splice_Site			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5						cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTCTGCTTTTAGTTACATCCC	0.289000													6	129					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184292	14184292	+	RNA	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:14184292C>T	ENST00000581935.1	+	0	981																				lung(3)	3						CTTTATAAAACGCACTTTGGA	0.279000													10	8					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197445	24197445	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:24197445T>C	ENST00000379177.1	+	6	631	c.204T>C	c.(202-204)atT>atC	p.I68I	ZFX_ENST00000379188.3_Silent_p.I68I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Silent_p.I68I|ZFX_ENST00000304543.5_Silent_p.I68I|ZFX_ENST00000540034.1_Silent_p.I107I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAGATGTTATTGAGGACGTTG	0.403000													4	254					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106975178	106975178	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:106975178A>T	ENST00000369066.3	+	5	3675		c.e5-1			NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1								sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTATTGTTAGTTGGATTTT	0.358000													7	210					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428000													9	620					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949408	97949408	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:97949408G>A	ENST00000005260.8	-	5	525	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	104	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTCTTCTCCAGCTCATGGATA	0.403000													5	933					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221210	48221210	+	Silent	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:48221210G>T	ENST00000394747.1	-	20	3184	c.2835C>A	c.(2833-2835)tcC>tcA	p.S945S	ABCC11_ENST00000356608.2_Silent_p.S945S|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.S945S|ABCC11_ENST00000353782.5_Silent_p.S945S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	945	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCACCATTAAGGACAGGACCA	0.468000													8	169					1.06961e-07	1.19545e-07	1	1	0
C9orf64	84267	broad.mit.edu	37	9	86571165	86571165	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:86571165T>C	ENST00000376344.3	-	1	467	c.251A>G	c.(250-252)gAg>gGg	p.E84G	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	84										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACACTTGTGCTCGTCCTGCTC	0.597000													4	365					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360161	54360161	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:54360161C>T	ENST00000361921.3	+	1	302	c.278C>T	c.(277-279)cCa>cTa	p.P93L	DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93L|DIO1_ENST00000322679.6_Missense_Mutation_p.P93L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.P93L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	93					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGTCTGGCCCCAAACTGCCCG	0.547000													25	190					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													3	94					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627366	21627366	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:21627366C>A	ENST00000425654.2	+	19	2713	c.2233C>A	c.(2233-2235)Cca>Aca	p.P745T	CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P775T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775T	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	775					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATTGAGACGCCACTGACAAG	0.562000													22	172					2.44723e-14	2.89218e-14	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21892083	21892083	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:21892083A>T	ENST00000328843.6	+	68	10948		c.e68-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTTTTATTAGTTGGTATTG	0.403000									Kartagener syndrome				10	103					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11							CUL4 RING ubiquitin ligase complex	protein binding										TGCTTCTCTTAGTTCATATCT	0.463000													8	636					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544277	154544277	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:154544277C>A	ENST00000368476.3	+	5	1242	c.978C>A	c.(976-978)ccC>ccA	p.P326P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	326					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACCGCTCGCCCACCACGCACA	0.632000													6	151					0.0293803	0.0294998	1	1	0
FN1	2335	broad.mit.edu	37	2	216236992	216236992	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:216236992C>A	ENST00000354785.4	-	40	6723	c.6354G>T	c.(6352-6354)ggG>ggT	p.G2118G	FN1_ENST00000359671.1_Silent_p.G2027G|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000346544.3_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000432072.2_Intron|FN1_ENST00000421182.1_Silent_p.G1912G|FN1_ENST00000323926.6_Silent_p.G2118G|FN1_ENST00000446046.1_Silent_p.G2002G			P02751	FINC_HUMAN	fibronectin 1	2027	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G2027G(1)|p.G2118G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTGTCATACCCAGGGTGGG	0.498000													67	104					1.34159e-35	1.60861e-35	1	1	0
C22orf42	150297	broad.mit.edu	37	22	32546391	32546391	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:32546391A>G	ENST00000382097.3	-	7	641	c.569T>C	c.(568-570)cTa>cCa	p.L190P		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	190										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						AGAGACAGATAGGCTTTCACT	0.438000													4	194					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485944	11485944	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:11485944A>T	ENST00000423059.3	-	13	3059	c.2808T>A	c.(2806-2808)agT>agA	p.S936R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	936	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTCTTTTTACTTTTTCCTG	0.338000										HNSCC(18;0.044)			5	247					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70462203	70462203	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:70462203C>T	ENST00000373998.1	-	23	4280	c.3583G>A	c.(3583-3585)Gtc>Atc	p.V1195I	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V1207I|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1207I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1209I|ZMYM3_ENST00000373984.3_Intron	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1207					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGAGGAGGACAAAGGGCGAG	0.537000													19	174					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44198568	44198568	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:44198568G>A	ENST00000393841.1	+	9	1199	c.708G>A	c.(706-708)caG>caA	p.Q236Q	SLC29A1_ENST00000393844.1_Silent_p.Q236Q|SLC29A1_ENST00000371755.3_Silent_p.Q236Q|SLC29A1_ENST00000371731.1_Silent_p.Q236Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.Q236Q|SLC29A1_ENST00000313248.7_Silent_p.Q315Q|SLC29A1_ENST00000371740.5_Silent_p.Q236Q|SLC29A1_ENST00000371713.1_Silent_p.Q236Q|SLC29A1_ENST00000371724.1_Silent_p.Q236Q|SLC29A1_ENST00000427851.2_Silent_p.Q236Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	236					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GCTACTACCAGCAGCTCAAGC	0.542000													4	352					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48852194	48852194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:48852194G>A	ENST00000314191.2	-	11	1086	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q344*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	344					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCATAAAACTGCTCCATAAAG	0.318000								Non-homologous end-joining					4	65					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71876416	71876416	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:71876416C>T	ENST00000307864.1	-	7	944	c.731G>A	c.(730-732)gGc>gAc	p.G244D	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.G244D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	244					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GATCTTGATGCCGGTGCAGAG	0.567000											OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	248					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443935	5443935	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:5443935C>T	ENST00000300778.4	+	1	595	c.505C>T	c.(505-507)Cct>Tct	p.P169S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGCGACTGCCTTTCTGCCA	0.517000													7	695					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4153518	4153518	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:4153518A>T	ENST00000300738.5	+	16	1976	c.1772A>T	c.(1771-1773)tAt>tTt	p.Y591F	RRM1_ENST00000537197.1_Missense_Mutation_p.Y253F|RRM1_ENST00000534285.1_Missense_Mutation_p.Y369F|RRM1_ENST00000423050.2_Missense_Mutation_p.Y494F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	591					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TTCTTTAGGTATGGTATAAGA	0.408000													4	125					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149404	119149404	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:119149404A>G	ENST00000264033.4	+	9	1788	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	471	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)		TTCATGATGAAGGAATTGGCT	0.463000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				3	137					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694794	111694794	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:111694794A>T	ENST00000435970.1	-	15	5346	c.4530T>A	c.(4528-4530)agT>agA	p.S1510R	REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1588					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTGTTTTGTACTTCTGGGAG	0.368000								DNA polymerases (catalytic subunits)					8	426					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763992	110763992	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:110763992C>T	ENST00000451085.1	+	4	2210	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Silent_p.F388F|LRRN3_ENST00000308478.5_Silent_p.F388F|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	388	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACATTCGATTCATGGAGCCAG	0.463000													7	187					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124377846	124377846	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:124377846C>A	ENST00000409039.3	+	52	8733	c.8708C>A	c.(8707-8709)gCt>gAt	p.A2903D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2903	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGACAGGAAGCTCTGAAGCAA	0.498000													4	175					0.184627	0.184627	1	1	0
KAT8	84148	broad.mit.edu	37	16	31141445	31141445	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:31141445G>A	ENST00000543774.2	+	8	1214	c.879G>A	c.(877-879)cgG>cgA	p.R293R	KAT8_ENST00000219797.4_Silent_p.R293R|KAT8_ENST00000448516.2_Silent_p.R293R			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	293					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										AGGTGGACCGGCAGGGGGCCC	0.577000													5	410					0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40222097	40222097	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:40222097G>A	ENST00000221804.4	-	4	427	c.352C>T	c.(352-354)Cct>Tct	p.P118S		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	118	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ACAGCCTCAGGCTTGATTCTA	0.398000													8	685					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142691426	142691426	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:142691426G>A	ENST00000230173.6	+	4	1041	c.565G>A	c.(565-567)Gca>Aca	p.A189T	GPR126_ENST00000367608.2_Missense_Mutation_p.A189T|GPR126_ENST00000296932.8_Missense_Mutation_p.A189T|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	189	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A189T(1)|p.A188T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTGCTTTGAAGCAACCAAAGT	0.438000													24	97					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226340280	226340280	+	Silent	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:226340280T>G	ENST00000366812.5	-	7	1185	c.1131A>C	c.(1129-1131)cgA>cgC	p.R377R	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	377					steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGATCTGAGGTCGTGTCCACA	0.468000													7	259					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155303879	155303879	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:155303879C>T	ENST00000460012.1	-	5	842	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	PLCH1_ENST00000340059.7_Missense_Mutation_p.R180Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R162Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R180Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R180Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R162Q			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	180	EF-hand 1.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTTTTCTTCGGGGCAGATT	0.363000													90	349					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795583	33795583	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:33795583C>A	ENST00000261326.5	+	8	1461	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	480					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	ATGTCCAGGCCTTTCTTAGGT	0.552000													15	160					8.00594e-06	8.6731e-06	1	1	0
RFX2	5990	broad.mit.edu	37	19	6013023	6013023	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:6013023C>T	ENST00000303657.5	-	8	1022	c.873G>A	c.(871-873)cgG>cgA	p.R291R	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.R291R|RFX2_ENST00000592546.1_Silent_p.R266R	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGGCTGCTGCCGCATGGCCA	0.617000													5	372					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129096278	129096278	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:129096278A>T	ENST00000249344.2	+	9	874		c.e9-1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTTCTTCCTTAGTTTACCCTC	0.517000													7	300					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802543	137802543	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:137802543C>T	ENST00000239938.4	+	2	677	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	135					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTATACTGGCCGCTTTTCCC	0.582000													5	92					0	0	1	0	0
PAQR3	152559	broad.mit.edu	37	4	79845029	79845029	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:79845029G>T	ENST00000512733.1	-	5	988	c.775C>A	c.(775-777)Cca>Aca	p.P259T	PAQR3_ENST00000380645.4_Missense_Mutation_p.P259T|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	259						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TACCGCTCTGGGACTTTGGAA	0.373000													13	183					6.81908e-15	8.09765e-15	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99955907	99955907	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:99955907C>T	ENST00000372981.1	-	5	711	c.525G>A	c.(523-525)cgG>cgA	p.R175R	SYTL4_ENST00000454200.2_Silent_p.R175R|SYTL4_ENST00000276141.6_Silent_p.R175R|SYTL4_ENST00000372989.1_Silent_p.R175R|SYTL4_ENST00000455616.1_Silent_p.R175R|SYTL4_ENST00000263033.5_Silent_p.R175R			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTCCTTCTGCCGCTCCTGAA	0.383000													4	330					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11411762	11411762	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:11411762C>G	ENST00000304623.8	-	5	514	c.325G>C	c.(325-327)Ggt>Cgt	p.G109R	CTNND2_ENST00000503622.1_Missense_Mutation_p.G18R|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	109					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTTGACCATCTGAAATG	0.338000													15	40					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20490520	20490520	+	RNA	SNP	G	G	A	rs71466675	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:20490520G>A	ENST00000555186.1	+	0	500					NR_038836.1																						ACCTTGTCAAGAAGTTGTTGG	0.433000													4	581					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119024975	119024975	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:119024975C>T	ENST00000307417.3	+	4	726	c.362C>T	c.(361-363)tCt>tTt	p.S121F	ABCG4_ENST00000449422.2_Missense_Mutation_p.S121F|ABCG4_ENST00000531739.1_Missense_Mutation_p.S121F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	121	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCAGGGAGTCTGGAATGAAG	0.542000													5	208					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111591712	111591712	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:111591712A>C	ENST00000304987.3	+	12	2043	c.1870A>C	c.(1870-1872)Ata>Cta	p.I624L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	624					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I624L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGAACAAATAGGACCGGA	0.507000													3	208					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748947	10748947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:10748947C>T	ENST00000586078.1	+	20	1994	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	SLC44A2_ENST00000335757.5_Nonsense_Mutation_p.Q629*|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.Q627*	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	629					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CAGGATCGTGCAGGATACAGC	0.502000													5	558					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155252835	155252835	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:155252835C>A	ENST00000357232.3	-	10	2264	c.2265G>T	c.(2263-2265)tgG>tgT	p.W755C	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	755	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CACCATCTGCCCAGGTTATGA	0.468000													5	48					0.0215528	0.0219075	1	1	0
PAX7	5081	broad.mit.edu	37	1	18962797	18962797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:18962797C>T	ENST00000420770.2	+	4	601	c.518C>T	c.(517-519)gCg>gTg	p.A173V	PAX7_ENST00000375375.3_Missense_Mutation_p.A173V|PAX7_ENST00000400661.3_Missense_Mutation_p.A171V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	173					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		gaggatgaagcggacaagaag	0.527000			T	FOXO1A	alveolar rhabdomyosarcoma								4	166					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159618709	159618709	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:159618709A>T	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	0.348000													4	61					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579034	41579034	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:41579034G>T	ENST00000402904.2	-	8	1004	c.636C>A	c.(634-636)tgC>tgA	p.C212*	SCMH1_ENST00000326197.7_Nonsense_Mutation_p.C212*|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.C151*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.C192*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.C222*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.C165*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.C165*	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	212					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AGTCGAAGCGGCACCAGTAGT	0.567000													3	70					2.56e-06	2.79788e-06	1	1	0
BID	637	broad.mit.edu	37	22	18220987	18220987	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:18220987G>C	ENST00000317361.7	-	5	836	c.510C>G	c.(508-510)aaC>aaG	p.N170K	BID_ENST00000399767.1_Missense_Mutation_p.N28K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000551952.1_Missense_Mutation_p.N124K|BID_ENST00000399774.3_Missense_Mutation_p.N124K|BID_ENST00000342111.5_3'UTR	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	124					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	p.N170K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CCAGGTCCCTGTTCCGGTCCT	0.557000													61	36					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37428925	37428925	+	Silent	SNP	A	A	T	rs148813970	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:37428925A>T	ENST00000234170.5	-	16	3292	c.3147T>A	c.(3145-3147)acT>acA	p.T1049T	AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397064.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1049					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTGTTTTTTAGTTTTTTGAG	0.294000													3	21					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67576514	67576514	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:67576514A>G	ENST00000540839.3	+	14	2105	c.1885A>G	c.(1885-1887)Acc>Gcc	p.T629A	FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A|CTD-2012K14.3_ENST00000563083.1_RNA			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	613	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCCAAGCCCTACCCATACCAC	0.542000													4	183					0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172196066	172196066	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:172196066T>A	ENST00000375258.3	-	4	451		c.e4-2					B3KW44	B3KW44_HUMAN	methyltransferase like 8								methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CATACTTAACTAAAATAAAGA	0.269000													4	75					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524564	37524564	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:37524564G>A	ENST00000216223.5	-	10	1426	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	410					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCTGACAGAGGCTGCAGGGGT	0.652000													3	38					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694792	111694792	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:111694792G>T	ENST00000435970.1	-	15	5348	c.4532C>A	c.(4531-4533)aCa>aAa	p.T1511K	REV3L_ENST00000358835.3_Missense_Mutation_p.T1589K|REV3L_ENST00000368805.1_Missense_Mutation_p.T1589K|REV3L_ENST00000368802.3_Missense_Mutation_p.T1589K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1589					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTTGTTTTGTACTTCTGGG	0.373000								DNA polymerases (catalytic subunits)					5	418					1.6384e-10	1.87354e-10	1	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13941432	13941432	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:13941432C>T	ENST00000254323.2	+	13	2727	c.2538C>T	c.(2536-2538)gaC>gaT	p.D846D	ZSWIM4_ENST00000440752.2_Silent_p.D680D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	846							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGTCAACGACGTGCTTTGGG	0.667000													7	314					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:183495733A>T	ENST00000367537.3	+	6	597	c.402A>T	c.(400-402)ttA>ttT	p.L134F	SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348000													5	154					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743472	98743472	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:98743472G>T	ENST00000286067.2	+	1	2432	c.2325G>T	c.(2323-2325)gaG>gaT	p.E775D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	775										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCCTAGATGAGGACGATGTTG	0.473000													4	124					2.0095e-06	2.20598e-06	1	1	0
CCDC62	84660	broad.mit.edu	37	12	123273471	123273471	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:123273471T>A	ENST00000253079.6	+	5	1009	c.665T>A	c.(664-666)cTa>cAa	p.L222Q	CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	222						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTCAACAAACTAAAAGGTAAG	0.358000													4	111					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388456	1388456	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:1388456G>A	ENST00000324803.4	+	1	3117	c.157G>A	c.(157-159)Gcc>Acc	p.A53T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	53					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGTGGAGTGCCCGCCTGCT	0.642000													25	90					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008695	73008695	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:73008695G>A	ENST00000313375.3	-	16	2396	c.2349C>T	c.(2347-2349)aaC>aaT	p.N783N	MLXIPL_ENST00000395189.1_Silent_p.N690N|MLXIPL_ENST00000429400.2_Silent_p.N764N|MLXIPL_ENST00000414749.2_Silent_p.N781N|MLXIPL_ENST00000354613.1_Silent_p.N762N|MLXIPL_ENST00000434326.1_Silent_p.N689N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	783					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACACCATCCCGTTGAAGGACT	0.637000													6	127					0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181021607	181021607	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:181021607G>C	ENST00000367580.5	+	4	846	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.E236Q|MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CTGTCATGTGGAGCACTGCGG	0.547000													12	75					0	0	1	0	0
YPEL1	29799	broad.mit.edu	37	22	22064992	22064992	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:22064992C>T	ENST00000339468.3	-	2	425	c.42G>A	c.(40-42)ctG>ctA	p.L14L	YPEL1_ENST00000403503.1_Silent_p.L14L	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	14						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GACAGTTCGGCAGATACGCTT	0.512000													7	795					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27221579	27221579	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:27221579G>A	ENST00000286096.4	+	2	308	c.135G>A	c.(133-135)gtG>gtA	p.V45V	KDM8_ENST00000380948.2_Silent_p.V45V|KDM8_ENST00000568965.1_Silent_p.V45V|KDM8_ENST00000441782.2_Silent_p.V83V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	45					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										AGAGGAGCGTGGTGACATTGT	0.592000													38	192					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49447312	49447312	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:49447312G>A	ENST00000301067.7	-	6	785	c.786C>T	c.(784-786)gcC>gcT	p.A262A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.A262D(2)|p.A262A(2)|p.L260fs*8(1)									CACGTTTGCGGGCAGTCAGAG	0.577000													11	54					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484587	45484587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:45484587G>A	ENST00000359600.5	-	14	3302	c.3097C>T	c.(3097-3099)Cag>Tag	p.Q1033*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1033							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGAGTATCCTGGTTGTAGGCC	0.577000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	313					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97297120	97297120	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:97297120C>T	ENST00000599854.1	-	3	521	c.54G>A	c.(52-54)cgG>cgA	p.R18R	KANSL3_ENST00000441706.2_Silent_p.R18R|KANSL3_ENST00000435669.1_Silent_p.R18R|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000431828.1_Silent_p.R105R	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	105																	AGATGACATGCCGTTCACACT	0.527000													3	69					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49447313	49447313	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:49447313G>T	ENST00000301067.7	-	6	784	c.785C>A	c.(784-786)gCc>gAc	p.A262D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.A262D(4)|p.L260fs*8(1)									ACGTTTGCGGGCAGTCAGAGC	0.577000													11	54					6.42651e-13	7.52298e-13	1	1	0
FCAR	2204	broad.mit.edu	37	19	55401088	55401088	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:55401088C>A	ENST00000391723.3	+	4	613	c.613C>A	c.(613-615)Ctt>Att	p.L205I	FCAR_ENST00000359272.4_Silent_p.L229L|FCAR_ENST00000391724.3_Silent_p.L207L|FCAR_ENST00000391726.3_Silent_p.L133L|FCAR_ENST00000391725.3_Silent_p.L219L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Silent_p.L145L|FCAR_ENST00000355524.3_Silent_p.L241L|FCAR_ENST00000353758.4_Silent_p.L132L	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCGTGGCTCTCTTGGCCATAC	0.537000													6	322					8.12818e-05	8.65371e-05	1	1	0
DRP2	1821	broad.mit.edu	37	X	100506047	100506047	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:100506047A>G	ENST00000395209.3	+	16	2367	c.1840A>G	c.(1840-1842)Agg>Ggg	p.R614G	DRP2_ENST00000538510.1_Missense_Mutation_p.R614G|DRP2_ENST00000402866.1_Missense_Mutation_p.R614G|DRP2_ENST00000541709.1_Missense_Mutation_p.R536G	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	614					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTCTATCTGTAGGCAGTGCCC	0.463000													4	332					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25331696	25331696	+	RNA	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:25331696A>G	ENST00000546682.1	+	0	453				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA	NR_003361.1																						ACTTCCATATATACATTCCTT	0.463000													6	392					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22067484	22067484	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:22067484T>C	ENST00000382374.4	-	12	1274	c.1209A>G	c.(1207-1209)caA>caG	p.Q403Q	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2									p.Q403Q(1)									TACTCTGATGTTGTGGTACCT	0.333000													21	85					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39919273	39919273	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:39919273T>G	ENST00000393931.3	-	8	1577	c.1459A>C	c.(1459-1461)Aag>Cag	p.K487Q	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.K487Q|JUP_ENST00000393930.1_Missense_Mutation_p.K487Q	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	487					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	p.K487Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGAGCAGCTTCACGATGGCT	0.607000													19	63					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73225581	73225581	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:73225581C>T	ENST00000377110.2	-	18	2818	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	TRPM3_ENST00000396292.4_Missense_Mutation_p.G731S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886S|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718S|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863S|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718S|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708S|TRPM3_ENST00000377111.2_Missense_Mutation_p.G859S|TRPM3_ENST00000377106.1_Missense_Mutation_p.G731S|TRPM3_ENST00000358082.3_Missense_Mutation_p.G721S|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	884						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATTTTTCTGCCGAGGGGGATT	0.473000													6	623					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418000													9	476					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8928107	8928107	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:8928107C>T	ENST00000234590.4	-	5	369	c.250G>A	c.(250-252)Gtc>Atc	p.V84I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	84					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCTGTGACGTTCAGTTTC	0.478000													18	3348					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591810	70591810	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:70591810C>T	ENST00000260126.3	-	8	2533	c.1827G>A	c.(1825-1827)gtG>gtA	p.V609V	SLCO5A1_ENST00000530307.1_Silent_p.V554V|SLCO5A1_ENST00000524945.1_Silent_p.V609V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	609						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGGAGTGATCACTTGGCGAC	0.458000													13	466					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21733438	21733438	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:21733438C>T	ENST00000261195.2	-	2	395	c.141G>A	c.(139-141)gtG>gtA	p.V47V		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	47					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTCTGAATCACAGTATAGA	0.353000													10	148					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207631976	207631976	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:207631976G>A	ENST00000236980.6	+	2	907	c.559G>A	c.(559-561)Gca>Aca	p.A187T	FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	187					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTATTTCACAGCAATGTGGAC	0.408000													4	418					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:51447559A>T	ENST00000418425.2	+	4	448		c.e4-1		LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403000													10	1074					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736257	140736257	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140736257A>G	ENST00000571252.1	+	1	1490	c.1490A>G	c.(1489-1491)cAg>cGg	p.Q497R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACCTTCCAGGGTGCACCT	0.512000													5	301					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015865	145015865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145015865C>A	ENST00000369359.4	-	3	474	c.436G>T	c.(436-438)Gag>Tag	p.E146*	PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E146*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	9					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTACCTTCTCAAAGTCTCGA	0.443000			T	PDGFRB	MPD								15	1884					7.48243e-07	8.28771e-07	1	1	0
HOXD13	3239	broad.mit.edu	37	2	176959247	176959247	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:176959247G>T	ENST00000392539.3	+	2	821	c.821G>T	c.(820-822)cGa>cTa	p.R274L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	274					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGCGTCTACCGAAGAGGGAGG	0.468000			T	NUP98	AML*								7	78					0.0293803	0.0294998	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20658745	20658745	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:20658745T>C	ENST00000525748.1	+	12	2038	c.1765T>C	c.(1765-1767)Tcc>Ccc	p.S589P	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	589					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CATAGTGACCTCCATCTCAGA	0.483000													4	460					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43799003	43799003	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:43799003T>A	ENST00000403856.1	-	14	2056		c.e14-2		THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000405006.4_Splice_Site|THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000330266.7_Splice_Site			Q6YHU6	THADA_HUMAN	thyroid adenoma associated								binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318000													4	121					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100361427	100361427	+	RNA	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:100361427A>G	ENST00000542585.1	+	0	4134				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.?(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTCTCTTGCAGGTGTCAGAA	0.587000													24	100					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368000													4	49					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35506818	35506818	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:35506818T>C	ENST00000353139.5	-	45	6130	c.5649A>G	c.(5647-5649)ttA>ttG	p.L1883L	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Silent_p.L1846L|ACACA_ENST00000360679.3_Silent_p.L1788L|ACACA_ENST00000335166.5_Silent_p.L1768L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1846	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGTTAGAATTAAGTGAGAAT	0.423000													6	287					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371797	139371797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:139371797C>T	ENST00000313050.7	-	1	344	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2055					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACAAGCAAACCGGGGTGCTGA	0.587000													4	358					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24700199	24700199	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:24700199A>G	ENST00000374409.1	-	6	818	c.564T>C	c.(562-564)ccT>ccC	p.P188P	STPG1_ENST00000003583.8_Silent_p.P141P|STPG1_ENST00000337248.4_Silent_p.P188P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Silent_p.P141P	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		TACCTGGGGGAGGTCCTTTAT	0.493000													7	797					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740059	140740059	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140740059A>G	ENST00000522605.1	+	1	357	c.357A>G	c.(355-357)atA>atG	p.I119M	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTACATAGCAGTAATTG	0.383000													5	776					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671044	25671044	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:25671044A>G	ENST00000281589.3	+	1	745	c.708A>G	c.(706-708)gtA>gtG	p.V236V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	236	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTGGATTTGTAAGCTTTGAAA	0.418000													8	1400					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331192	77331192	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:77331192G>A	ENST00000282849.5	-	18	3213	c.2795C>T	c.(2794-2796)cCg>cTg	p.P932L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	932	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TTACTAAGCCGGGCAGGAGAA	0.398000													4	436					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580124	140580124	+	Translation_Start_Site	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140580124G>A	ENST00000536699.1	+	0	245				PCDHB11_ENST00000354757.3_Silent_p.S259S			Q9Y5F2	PCDBB_HUMAN							calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTTGGCTCGCTGATTTTGA	0.438000													5	352					0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402681	33402681	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:33402681C>G	ENST00000373456.7	-	9	1924	c.1925G>C	c.(1924-1926)tGt>tCt	p.C642S	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.C641S	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	642						integral to membrane	ligase activity|protein binding|zinc ion binding	p.C451S(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTCTGTTCACAGCTTTGGTG	0.552000													6	331					0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154184845	154184845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:154184845G>A	ENST00000368521.5	-	6	715	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	C1orf43_ENST00000362076.4_Nonsense_Mutation_p.Q121*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.Q139*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.Q173*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.Q155*|C1orf43_ENST00000350592.3_Nonsense_Mutation_p.Q139*	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	173						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCATTCTGGCCAAAGACC	0.522000													6	1083					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52427899	52427899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:52427899G>T	ENST00000261837.7	-	8	747	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	GNB5_ENST00000396335.4_Missense_Mutation_p.Q116K|GNB5_ENST00000358784.7_Missense_Mutation_p.Q186K|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	228						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TGCAGCAGCTGCCCGCTCTCC	0.597000													8	209					1.76689e-08	2.00194e-08	1	1	0
KRT85	3891	broad.mit.edu	37	12	52755264	52755264	+	Silent	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:52755264G>T	ENST00000257901.3	-	8	1392	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	KRT85_ENST00000544265.1_Silent_p.G227G	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	439	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATTCACAGAGCCCACACCTT	0.463000													130	822					1.67449e-95	2.01756e-95	1	1	0
PC	5091	broad.mit.edu	37	11	66617533	66617533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:66617533C>A	ENST00000393960.1	-	20	3054	c.2773G>T	c.(2773-2775)Gga>Tga	p.G925*	PC_ENST00000393955.2_Nonsense_Mutation_p.G925*|PC_ENST00000393958.2_Nonsense_Mutation_p.G925*|PC_ENST00000529047.1_Nonsense_Mutation_p.G45*	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	925					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGGCTCAATCCATTCTGCACC	0.637000													3	61					6.4e-05	6.84329e-05	1	1	0
VEZT	55591	broad.mit.edu	37	12	95694432	95694432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:95694432G>T	ENST00000436874.1	+	12	2428	c.2323G>T	c.(2323-2325)Gag>Tag	p.E775*	VEZT_ENST00000261219.6_Nonsense_Mutation_p.E727*|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	775						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AAATAAAAATGAGATAGAAGA	0.368000													3	32					0.004672	0.00480827	1	1	0
TLR7	51284	broad.mit.edu	37	X	12903798	12903798	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:12903798A>G	ENST00000380659.3	+	3	310	c.171A>G	c.(169-171)acA>acG	p.T57T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	57					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGCATTTGACAGAAATTCCTG	0.498000													5	787					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178050411	178050411	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:178050411G>A	ENST00000316308.4	-	2	175	c.7C>T	c.(7-9)Cat>Tat	p.H3Y	CLK4_ENST00000520957.1_Missense_Mutation_p.H3Y	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	3						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTTTTGGAATGCCGCATCTGT	0.378000													4	157					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGTTACTAACTAAAAAAGAAG	0.413000													4	128					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427127	97427127	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:97427127G>A	ENST00000377075.2	+	1	489	c.391G>A	c.(391-393)Gtg>Atg	p.V131M		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	131					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CACGTCCGGCGTGCTGGTGGT	0.657000													3	108					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969065	5969065	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:5969065C>T	ENST00000329564.6	+	1	496	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCCCATCCCCATCCTTT	0.443000													6	236					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:118635189A>T	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473000													7	106					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:37015253A>T	ENST00000418263.1	+	7	1445		c.e7-1		CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1						cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393000													4	77					0	0	1	0	0
MLF2	8079	broad.mit.edu	37	12	6859100	6859100	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:6859100C>A	ENST00000203630.5	-	7	1117	c.473G>T	c.(472-474)cGg>cTg	p.R158L	MLF2_ENST00000539187.1_Missense_Mutation_p.R158L|MLF2_ENST00000435120.1_Missense_Mutation_p.R158L|MLF2_ENST00000542154.1_Missense_Mutation_p.R158L			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	158					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AGCCCTGTCCCGGATGTGATG	0.597000													7	183					0.0293803	0.0294998	1	1	0
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4									p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378000													3	52					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958049	47958049	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:47958049T>A	ENST00000426837.2	-	8	1406	c.1319A>T	c.(1318-1320)gAc>gTc	p.D440V	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.D423V|MAP4_ENST00000395734.3_Missense_Mutation_p.D423V			P27816	MAP4_HUMAN	microtubule-associated protein 4	423	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGATATAATGTCATTAGCCTG	0.493000													6	565					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56531150	56531150	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56531150G>A	ENST00000394048.5	+	17	2195	c.1931G>A	c.(1930-1932)gGg>gAg	p.G644E	ESYT1_ENST00000541590.1_Missense_Mutation_p.G654E|ESYT1_ENST00000267113.4_Missense_Mutation_p.G654E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	644	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGCCAGTTTGGGACTGAGGTG	0.547000													3	124					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495254	32495254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:32495254C>A	ENST00000266088.4	+	12	1615	c.1365C>A	c.(1363-1365)taC>taA	p.Y455*	SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.Y328*	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	455					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCTTCGATTACATCCAGTCCA	0.502000													6	599					0.00307968	0.00319614	1	1	0
HAUS6	54801	broad.mit.edu	37	9	19060130	19060130	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:19060130G>A	ENST00000380502.3	-	15	2188	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	HAUS6_ENST00000380496.1_Missense_Mutation_p.P438L	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	574					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTTAAGAAGGGGTTAGAACC	0.373000													5	44					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69173558	69173558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:69173558C>T	ENST00000481498.1	-	5	368	c.350G>A	c.(349-351)tGg>tAg	p.W117*	GKN2_ENST00000328895.4_Nonsense_Mutation_p.W117*			Q86XP6	GKN2_HUMAN	gastrokine 2	117	BRICHOS.					extracellular region		p.W117L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						GTACTTGACCCAGGTGTATTT	0.403000													4	229					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5209271	5209271	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:5209271A>T	ENST00000274181.7	+	10	1655	c.1517A>T	c.(1516-1518)aAa>aTa	p.K506I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	506	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K506I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TATCCTGAGAAATTGCCAGGA	0.448000													19	497					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874693	24874693	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:24874693A>T	ENST00000396432.2	-	26	5011	c.4525T>A	c.(4525-4527)Tca>Aca	p.S1509T		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTGTTTTGAGTTGTGTGGT	0.488000													8	844					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120576613	120576613	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:120576613C>A	ENST00000300648.6	-	46	6054	c.6042G>T	c.(6040-6042)ttG>ttT	p.L2014F		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2014					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGTCACACAAAGCCTTCC	0.547000													26	949					6.44725e-10	7.61605e-10	1	1	0
CBLC	23624	broad.mit.edu	37	19	45284600	45284600	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:45284600G>C	ENST00000270279.3	+	3	700	c.637G>C	c.(637-639)Gtc>Ctc	p.V213L	CBLC_ENST00000341505.4_Missense_Mutation_p.V213L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	213	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.V213L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGAGTTCGACGTCTTCACCAG	0.612000			M		AML								52	34					0	0	1	0	0
RAB7L1	8934	broad.mit.edu	37	1	205741655	205741655	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:205741655C>G	ENST00000367139.3	-	3	468	c.165G>C	c.(163-165)gaG>gaC	p.E55D	RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E55D|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E55D|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	55					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCCGCACTATCTCGTAGTCAG	0.363000													4	496					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869499	234869499	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:234869499G>A	ENST00000324695.4	+	12	1482	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	TRPM8_ENST00000433712.2_Missense_Mutation_p.G169D	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	481						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGAGAATGGCTTGAACCTA	0.478000													5	494					0	0	1	0	0
LIX1L	128077	broad.mit.edu	37	1	145492240	145492240	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:145492240C>T	ENST00000369308.3	+	3	536	c.462C>T	c.(460-462)tgC>tgT	p.C154C	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	154										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTAGTTTTGCCCCACAAAAG	0.448000													4	392					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143297454	143297454	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:143297454C>A	ENST00000316549.6	-	7	1075	c.867G>T	c.(865-867)ggG>ggT	p.G289G		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	289					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G289G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATACGCAGACCCCATTGCAA	0.458000													33	357					3.78316e-11	4.49528e-11	1	1	0
BICD1	636	broad.mit.edu	37	12	32369279	32369279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:32369279C>A	ENST00000548411.1	+	2	493	c.312C>A	c.(310-312)taC>taA	p.Y104*	BICD1_ENST00000281474.5_Nonsense_Mutation_p.Y104*	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	104					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGGAGGCTTACTATCTGGGGA	0.547000													10	188					0.000442599	0.000475559	1	1	0
COPS4	51138	broad.mit.edu	37	4	83970374	83970374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:83970374C>A	ENST00000509093.1	+	3	988	c.210C>A	c.(208-210)tgC>tgA	p.C70*	COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000264389.2_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70*	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	70					cullin deneddylation	cytoplasm|signalosome	protein binding	p.C70*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CTGATTTTTGCACACATCTTC	0.383000													18	62					1.50039e-11	1.79337e-11	1	1	0
OR52A1	23538	broad.mit.edu	37	11	5172907	5172907	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:5172907C>A	ENST00000380367.1	-	2	1110	c.693G>T	c.(691-693)ttG>ttT	p.L231F	OR52A1_ENST00000328942.1_Missense_Mutation_p.L231F			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	231					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCTGGGGCAAACGAAAAA	0.428000													15	199					0.00316338	0.00331089	1	1	0
KLRB1	3820	broad.mit.edu	37	12	9747902	9747902	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:9747902G>T	ENST00000229402.3	-	6	692	c.646C>A	c.(646-648)Cct>Act	p.P216T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	216					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						TTTCTCACAGGTGTTAGTTCT	0.373000													8	283					1.06961e-07	1.23464e-07	1	1	0
ANKRD42	338699	broad.mit.edu	37	11	82905759	82905759	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:82905759C>T	ENST00000393389.3	+	1	979	c.47C>T	c.(46-48)aCt>aTt	p.T16I	ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000393392.2_Missense_Mutation_p.T16I|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	16								p.T16I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTAGGGAGACTGCAAACCCC	0.572000													27	79					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650730	232650730	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:232650730C>G	ENST00000366630.1	-	2	714	c.356G>C	c.(355-357)aGt>aCt	p.S119T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	119					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S119T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTCTGGTCACTCTGCCCATT	0.502000													45	185					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623839	623839	+	Silent	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:623839A>T	ENST00000262109.7	-	4	590	c.513T>A	c.(511-513)atT>atA	p.I171I	ERICH1_ENST00000522706.1_Silent_p.I77I	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCTTCCTTTTAATTTGCTGTT	0.473000													5	48					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9424626	9424626	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr20:9424626A>T	ENST00000378501.2	+	27	2743		c.e27-1		PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGTTTGTTTAGGTATTGAAC	0.308000													6	144					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27221579	27221579	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:27221579G>A	ENST00000286096.4	+	2	308	c.135G>A	c.(133-135)gtG>gtA	p.V45V	KDM8_ENST00000568965.1_Silent_p.V45V|KDM8_ENST00000441782.2_Silent_p.V83V|KDM8_ENST00000380948.2_Silent_p.V45V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	45					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										AGAGGAGCGTGGTGACATTGT	0.592000													38	192					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222940	140222940	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140222940G>A	ENST00000531613.1	+	1	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A678A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAAAAGCGTCATCGAGGC	0.632000													3	48					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253832	55253832	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:55253832T>G	ENST00000337526.6	-	3	1646	c.1403A>C	c.(1402-1404)aAc>aCc	p.N468T	RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	468					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	p.N262T(1)|p.N468T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TGCTGCTGGGTTAAAGGGAGC	0.378000													11	158					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132522	58132522	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:58132522G>T	ENST00000396161.5	+	3	1345	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	345						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		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;0.0265)		AGCCGTTTGAGTGCATTGAAT	0.428000													5	432					0.000602214	0.000636897	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	74					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32910986	32910986	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:32910986G>A	ENST00000544455.1	+	11	2721	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E832K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	832	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.E832K(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAAACGTTGAGCTGTTGCC	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			7	51					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33840085	33840085	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr21:33840085C>T	ENST00000300255.2	+	4	1036	c.563C>T	c.(562-564)tCt>tTt	p.S188F	EVA1C_ENST00000382699.3_Missense_Mutation_p.S188F|EVA1C_ENST00000401402.3_Missense_Mutation_p.S188F	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		AACATCTACTCTGCGACCTAC	0.483000													6	105					0	0	1	0	0
CCDC122	160857	broad.mit.edu	37	13	44433878	44433878	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:44433878A>T	ENST00000444614.3	-	5	743	c.485T>A	c.(484-486)tTa>tAa	p.L162*	CCDC122_ENST00000281508.3_Nonsense_Mutation_p.L162*|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	162										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		CATTGTCTTTAATTTTTTAAC	0.318000													4	74					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23465467	23465467	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:23465467G>A	ENST00000248996.4	+	3	1583	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	306						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACATCCAGCGGCAGTTTGAA	0.577000													5	444					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766201	13766201	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:13766201G>A	ENST00000265104.4	-	59	10089	c.9985C>T	c.(9985-9987)Ctg>Ttg	p.L3329L	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3329	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTGAAACAGCAGCAGTACG	0.517000									Kartagener syndrome				4	273					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74659521	74659521	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:74659521C>T	ENST00000253159.8	+	27	5019	c.4821C>T	c.(4819-4821)ggC>ggT	p.G1607G	ZNF236_ENST00000320610.9_Silent_p.G1609G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1607					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCTCTCGGGCCAGGGTGGAG	0.507000													4	296					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67302932	67302932	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:67302932A>T	ENST00000392676.3	-	6	786	c.722T>A	c.(721-723)gTa>gAa	p.V241E	ABCA5_ENST00000588877.1_Missense_Mutation_p.V241E|ABCA5_ENST00000392677.2_Missense_Mutation_p.V241E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	241					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			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)					TTTTTCTGCTACGATATGAAT	0.269000													6	44					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167893	140167893	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140167893G>A	ENST00000504120.2	+	1	2018	c.2018G>A	c.(2017-2019)gGc>gAc	p.G673D	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGAGCGGCCAGGCGCCA	0.657000													3	24					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14982971	14982971	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:14982971G>A	ENST00000287667.7	+	29	3514	c.3343G>A	c.(3343-3345)Gac>Aac	p.D1115N		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1115						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGTGCTTCTGGACTCCACACT	0.433000													17	1646					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65746286	65746286	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:65746286G>A	ENST00000312397.5	+	19	2377	c.2285G>A	c.(2284-2286)aGc>aAc	p.S762N		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	762					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATGAGCTCCAGCGACACGCCC	0.672000													5	622					0	0	1	0	0
C17orf58	284018	broad.mit.edu	37	17	65989118	65989118	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:65989118T>C	ENST00000536693.1	-	1	550	c.145A>G	c.(145-147)Acc>Gcc	p.T49A	C17orf58_ENST00000449250.2_Intron|C17orf58_ENST00000334461.7_Missense_Mutation_p.T49A			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	0										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAACGGTGGTATAAAGTACA	0.498000													3	67					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169565309	169565309	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:169565309G>C	ENST00000263686.6	-	12	1992	c.1955C>G	c.(1954-1956)aCc>aGc	p.T652S	SELP_ENST00000367786.2_Missense_Mutation_p.T590S|SELP_ENST00000367791.2_Missense_Mutation_p.T466S|SELP_ENST00000367792.2_Missense_Mutation_p.T468S|SELP_ENST00000367794.2_Missense_Mutation_p.T590S|SELP_ENST00000367788.2_Missense_Mutation_p.T590S|SELP_ENST00000367793.2_Missense_Mutation_p.T590S|SELP_ENST00000458599.2_Missense_Mutation_p.T468S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	652	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACAGTACATGGTTCCCTGCCC	0.502000													5	625					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42276720	42276720	+	Splice_Site	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:42276720G>T	ENST00000361204.4	+	10	1928	c.1761_splice	c.e10-1	p.G588_splice		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	588					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TACTTTGTAGGGAGATTTTGC	0.542000													5	441					0.000602214	0.000636897	1	1	0
RAB5B	5869	broad.mit.edu	37	12	56383757	56383757	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:56383757C>T	ENST00000360299.5	+	3	411	c.190C>T	c.(190-192)Cta>Tta	p.L64L	RAB5B_ENST00000448789.2_Silent_p.L64L|RAB5B_ENST00000553116.1_Silent_p.L64L	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	64					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GTCCGTTTGTCTAGATGACAC	0.532000													4	317					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135305	33135305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:33135305G>A	ENST00000306065.4	-	5	609	c.451C>T	c.(451-453)Cga>Tga	p.R151*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*|ANKRD27_ENST00000586693.2_5'UTR	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	151					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGTCAAATCGCTCGGAGTGT	0.493000													8	1176					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67107007	67107007	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:67107007A>T	ENST00000284425.2	-	17	2381	c.2207T>A	c.(2206-2208)tTa>tAa	p.L736*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	736					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTGTTTTTAATTTAGCATC	0.299000													4	121					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021920	5021920	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:5021920A>G	ENST00000382545.3	+	2	2483	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	459					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGATCGAAGAGGATATGAAT	0.458000													4	307					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44181832	44181832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr20:44181832G>A	ENST00000357199.4	-	5	607	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	WFDC8_ENST00000289953.2_Nonsense_Mutation_p.Q177*	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	177	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTGTCTGTCTGGGGACAATCG	0.473000													4	368					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69782875	69782875	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:69782875A>G	ENST00000268802.5	-	6	701	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	224						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGGGACGTCACACTGCTCCA	0.597000													4	91					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133244227	133244227	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:133244227G>A	ENST00000320574.5	-	20	2224	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C	POLE_ENST00000535270.1_Silent_p.C700C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	727					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGGCTTTCCGGCAGTAATCTA	0.572000								DNA polymerases (catalytic subunits)					4	271					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18379546	18379546	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:18379546G>A	ENST00000441493.2	-	8	1502	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	MICAL3_ENST00000383094.3_Missense_Mutation_p.R384W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R384W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R384W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R384W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R384W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R384W|MICAL3_ENST00000444520.1_Missense_Mutation_p.R384W	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	384						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCTGCTCCCGCACCAAGGCG	0.562000											OREG0026285	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	226					0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15161374	15161374	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:15161374G>A	ENST00000378165.4	-	9	1218	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	NMT2_ENST00000540259.1_Missense_Mutation_p.R192W|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.R367W|NMT2_ENST00000378150.1_Missense_Mutation_p.R367W	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	380					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATGTGCTCCCGGGGGAGGAAC	0.448000													8	510					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54921397	54921397	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:54921397A>G	ENST00000284061.3	+	3	662	c.482A>G	c.(481-483)aAa>aGa	p.K161R	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	161					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TGGTGCCAGAAAACAGTACAT	0.308000													4	68					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185687852	185687852	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:185687852C>A	ENST00000515030.1	-	13	1512	c.1187G>T	c.(1186-1188)aGg>aTg	p.R396M	ACSL1_ENST00000504342.1_Missense_Mutation_p.R396M|ACSL1_ENST00000281455.2_Missense_Mutation_p.R396M|ACSL1_ENST00000454703.2_Missense_Mutation_p.R225M|ACSL1_ENST00000507295.1_Missense_Mutation_p.R362M|ACSL1_ENST00000513317.1_Missense_Mutation_p.R396M|ACSL1_ENST00000437665.3_Missense_Mutation_p.R225M			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	396					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTTCTTTCCTCTTGGAGGC	0.498000													62	409					1.95512e-22	2.40814e-22	1	1	0
DBNL	28988	broad.mit.edu	37	7	44099010	44099010	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:44099010G>T	ENST00000494774.1	+	10	917	c.896G>T	c.(895-897)gGc>gTc	p.G299V	DBNL_ENST00000468694.1_Missense_Mutation_p.G307V|DBNL_ENST00000490734.2_Missense_Mutation_p.G204V|DBNL_ENST00000452943.1_Missense_Mutation_p.G274V|DBNL_ENST00000448521.1_Missense_Mutation_p.G298V|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000440166.1_Missense_Mutation_p.G195V|DBNL_ENST00000456905.1_Missense_Mutation_p.G250V	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	298					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCCACTTTGGCAGAGAGCCA	0.592000													8	64					1.26484e-09	1.48546e-09	1	1	0
JKAMP	51528	broad.mit.edu	37	14	59954452	59954452	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:59954452C>G	ENST00000554271.1	+	3	725	c.199C>G	c.(199-201)Cct>Gct	p.P67A	JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A|JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A|JKAMP_ENST00000261247.9_Missense_Mutation_p.P53A			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	68					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	p.P61A(1)|p.P63A(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CACAGAATCTCCTGAACTTTA	0.373000													155	463					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123540242	123540242	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:123540242C>G	ENST00000422452.2	-	26	5143	c.5080G>C	c.(5080-5082)Gat>Cat	p.D1694H	TENM1_ENST00000371130.3_Missense_Mutation_p.D1687H|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.D1689H(1)									TTGGAAGTATCTAGCTCCACT	0.458000													6	209					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69381029	69381029	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:69381029G>A	ENST00000337103.4	+	3	1969	c.377G>A	c.(376-378)gGg>gAg	p.G126E	C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Missense_Mutation_p.G151E|C8orf34_ENST00000348340.2_Missense_Mutation_p.G151E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G237E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	151					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AAGAAGCTGGGGAAAGCCCTT	0.408000													6	124					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169801269	169801269	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:169801269G>A	ENST00000263817.6	-	21	2580	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	819	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTAGCAAAGGCATATCCCTA	0.363000													4	178					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403749	47403749	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:47403749A>G	ENST00000310638.4	-	2	287	c.256T>C	c.(256-258)Tgt>Cgt	p.C86R	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	86					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	p.C86R(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CAATGAGGACAGGCACTTGGG	0.493000													44	283					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57351183	57351183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:57351183G>A	ENST00000398138.3	-	1	920	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	22					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CTCAGCACCTGCCTCTCCCGG	0.587000													7	215					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61546362	61546362	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:61546362A>T	ENST00000398571.2	-	22	3190	c.3114T>A	c.(3112-3114)agT>agA	p.S1038R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1038					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)			GTTGATCTTTACTTCGAACTT	0.338000													4	94					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869551	140869551	+	Silent	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140869551T>A	ENST00000252087.1	+	1	744	c.744T>A	c.(742-744)cgT>cgA	p.R248R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		248	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R248R(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACGTGTGGGAATCC	0.542000													149	304					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65557820	65557820	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:65557820C>T	ENST00000304874.9	+	17	1418	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	ASL_ENST00000395332.3_Missense_Mutation_p.A439V|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.A419V|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.A413V	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	439					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAGTATGGTGCCCTGGGCGGC	0.692000													5	409					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941432	13941432	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:13941432C>T	ENST00000254323.2	+	13	2727	c.2538C>T	c.(2536-2538)gaC>gaT	p.D846D	ZSWIM4_ENST00000440752.2_Silent_p.D680D	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	846							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCGTCAACGACGTGCTTTGGG	0.667000													7	314					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11292739	11292739	+	Silent	SNP	C	C	T	rs140917604		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:11292739C>T	ENST00000227756.4	-	11	2187	c.1776G>A	c.(1774-1776)tcG>tcA	p.S592S		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		AGTGCTGGCCCGAGCACTTCT	0.617000													7	485					0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397067	49397067	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:49397067C>T	ENST00000548065.1	-	11	1204	c.748G>A	c.(748-750)Gca>Aca	p.A250T	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A199T|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.A218T|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A166T|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A259T|RP11-386G11.5_ENST00000552933.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	250	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TTTTCTGCTGCCAGATTCTGG	0.493000													6	899					0	0	1	0	0
MICU1	10367	broad.mit.edu	37	10	74128087	74128087	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:74128087A>G	ENST00000398761.4	-	14	1435	c.1303T>C	c.(1303-1305)Ttt>Ctt	p.F435L	MICU1_ENST00000398763.4_Missense_Mutation_p.F235L|MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000361114.5_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	433	EF-hand 2.				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.F435L(1)									ATGGAAACAAATTCCTTATTG	0.473000													26	155					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:121489343G>A	ENST00000310864.6	-	15	1860	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	549					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502000													5	474					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989907	70989907	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:70989907G>A	ENST00000256389.3	-	2	1962	c.1718C>T	c.(1717-1719)gCa>gTa	p.A573V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	523	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCACTCCTTGCATCTTGGCC	0.418000													9	909					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360160	54360160	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:54360160C>T	ENST00000361921.3	+	1	301	c.277C>T	c.(277-279)Cca>Tca	p.P93S	DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000532493.1_Missense_Mutation_p.P93S|DIO1_ENST00000388876.3_Missense_Mutation_p.P93S|DIO1_ENST00000322679.6_Missense_Mutation_p.P93S|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	93					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGGTCTGGCCCCAAACTGCCC	0.547000													26	192					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230381811	230381811	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:230381811C>T	ENST00000366672.4	+	8	804	c.732C>T	c.(730-732)gaC>gaT	p.D244D	GALNT2_ENST00000541865.1_Silent_p.D154D|GALNT2_ENST00000543760.1_Silent_p.D206D	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	244					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TATTTTAGGACAGGACTCGGG	0.458000													7	279					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444098	15444098	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:15444098C>T	ENST00000295297.4	+	3	825	c.566C>T	c.(565-567)aCa>aTa	p.T189I	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.T182I|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.T182I	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	182	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AACCCTGCCACAGGGAAGTTC	0.443000													5	685					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58002934	58002934	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:58002934G>A	ENST00000548198.1	+	5	2547	c.1043G>A	c.(1042-1044)tGa>tAa	p.*348*	DTX3_ENST00000548804.1_Silent_p.*348*|DTX3_ENST00000551632.1_Silent_p.*351*|DTX3_ENST00000337737.3_Silent_p.*348*			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	0					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACAGATGACTGAAGGACATCG	0.592000													11	134					0	0	1	0	0
CNBP	7555	broad.mit.edu	37	3	128889301	128889301	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:128889301C>T	ENST00000422453.2	-	5	689	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	CNBP_ENST00000451728.2_Missense_Mutation_p.A178T|CNBP_ENST00000500450.2_Missense_Mutation_p.A160T|CNBP_ENST00000441626.2_Missense_Mutation_p.A179T|CNBP_ENST00000504813.1_Missense_Mutation_p.A167T|CNBP_ENST00000502976.1_Missense_Mutation_p.A170T|CNBP_ENST00000446936.2_Missense_Mutation_p.A172T	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	177					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						AATAATTAGGCTGTAGCCTCA	0.468000													7	472					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274619	238274619	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:238274619C>T	ENST00000295550.4	-	12	6012	c.5560G>A	c.(5560-5562)Gcc>Acc	p.A1854T	COL6A3_ENST00000409809.1_Missense_Mutation_p.A1648T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1648T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1653T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1654T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1247T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1854	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCTTCTGGGCCACAAAAACA	0.547000													4	146					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793248	53793248	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:53793248T>C	ENST00000426466.1	-	1	1627	c.380A>G	c.(379-381)gAc>gGc	p.D127G		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	127					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTTCTTAACGTCCTTGAAATC	0.383000													4	212					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147009293	147009293	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:147009293T>G	ENST00000265272.5	-	15	2359	c.1892A>C	c.(1891-1893)gAt>gCt	p.D631A	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	631						Golgi apparatus		p.D631A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTATGAGATCAGGGATGTT	0.383000													14	60					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33318709	33318709	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:33318709G>A	ENST00000373475.5	+	6	1308	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	S100PBP_ENST00000373476.1_Missense_Mutation_p.D352N	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	352						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTTGATGGATCAAGTTCA	0.488000													6	560					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5790396	5790396	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:5790396T>G	ENST00000328090.5	+	15	5637	c.5012T>G	c.(5011-5013)gTa>gGa	p.V1671G		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1671								p.V1671G(1)									ACCCATTATGTAAGACCAATA	0.468000													8	76					0	0	1	0	0
VAPB	9217	broad.mit.edu	37	20	57015985	57015985	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr20:57015985T>C	ENST00000475243.1	+	5	757	c.419T>C	c.(418-420)aTt>aCt	p.I140T	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	140					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	p.I140T(1)		kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			ATAAATAAAATTATATCCACA	0.338000													78	155					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966445	87966445	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:87966445T>A	ENST00000369577.3	+	8	3141	c.3098T>A	c.(3097-3099)gTg>gAg	p.V1033E	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1033					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V1033E(1)|p.V888E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCTTTTCTGTGCAAAATCAG	0.323000													14	87					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56737274	56737274	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:56737274C>T	ENST00000314128.4	-	24	2478	c.2455G>A	c.(2455-2457)Ggt>Agt	p.G819S	STAT2_ENST00000557235.1_Missense_Mutation_p.G815S|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	819					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AGTGGGTCACCATTCGGCATG	0.502000													39	169					0	0	1	0	0
PSMD6	9861	broad.mit.edu	37	3	64007994	64007994	+	Splice_Site	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:64007994T>G	ENST00000492933.1	-	3	562	c.510_splice	c.e3+1	p.K170_splice	PSMD6_ENST00000394431.2_Splice_Site_p.K79_splice|PSMD6_ENST00000482510.1_Splice_Site_p.K78_splice|PSMD6_ENST00000295901.4_Splice_Site_p.K117_splice	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	p.K117N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CTCTACTCACTTTGTCACCTA	0.423000													90	219					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50680408	50680408	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:50680408G>A	ENST00000230658.7	+	2	647	c.62G>A	c.(61-63)gGc>gAc	p.G21D	ISL1_ENST00000511384.1_Missense_Mutation_p.G21D	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	21	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GTTGGTTGCGGCAATCAGATT	0.393000													4	315					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82933226	82933226	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:82933226G>T	ENST00000306270.7	-	8	1604	c.1055C>A	c.(1054-1056)aCa>aAa	p.T352K	IBTK_ENST00000503631.1_Missense_Mutation_p.T352K|IBTK_ENST00000510291.1_Missense_Mutation_p.T352K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	352					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AACACAGACTGTAGCTCCATC	0.428000													5	82					1.23904e-05	1.36768e-05	1	1	0
NSDHL	50814	broad.mit.edu	37	X	152037392	152037392	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:152037392G>A	ENST00000370274.3	+	8	1048	c.854G>A	c.(853-855)gGc>gAc	p.G285D	NSDHL_ENST00000440023.1_Missense_Mutation_p.G285D	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	285					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ATCCTGACAGGCCTCAATTAT	0.532000													7	420					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14184292	14184292	+	RNA	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:14184292C>T	ENST00000581935.1	+	0	981																				lung(3)	3						CTTTATAAAACGCACTTTGGA	0.279000													10	8					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197445	24197445	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:24197445T>C	ENST00000379177.1	+	6	631	c.204T>C	c.(202-204)atT>atC	p.I68I	ZFX_ENST00000338565.3_Silent_p.I68I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Silent_p.I107I|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000379188.3_Silent_p.I68I|ZFX_ENST00000304543.5_Silent_p.I68I	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAGATGTTATTGAGGACGTTG	0.403000													4	254					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49447313	49447313	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:49447313G>T	ENST00000301067.7	-	6	784	c.785C>A	c.(784-786)gCc>gAc	p.A262D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.A262D(4)|p.L260fs*8(1)									ACGTTTGCGGGCAGTCAGAGC	0.577000													11	54					6.42651e-13	7.77339e-13	1	1	0
STPG1	90529	broad.mit.edu	37	1	24700199	24700199	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:24700199A>G	ENST00000374409.1	-	6	818	c.564T>C	c.(562-564)ccT>ccC	p.P188P	STPG1_ENST00000003583.8_Silent_p.P141P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Silent_p.P188P|STPG1_ENST00000440416.1_Silent_p.P141P	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		TACCTGGGGGAGGTCCTTTAT	0.493000													7	797					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221210	48221210	+	Silent	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:48221210G>T	ENST00000394747.1	-	20	3184	c.2835C>A	c.(2833-2835)tcC>tcA	p.S945S	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Silent_p.S945S|ABCC11_ENST00000394748.1_Silent_p.S945S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.S945S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	945	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCACCATTAAGGACAGGACCA	0.468000													8	169					1.06961e-07	1.23464e-07	1	1	0
C9orf64	84267	broad.mit.edu	37	9	86571165	86571165	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:86571165T>C	ENST00000376344.3	-	1	467	c.251A>G	c.(250-252)gAg>gGg	p.E84G	C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	84										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACACTTGTGCTCGTCCTGCTC	0.597000													4	365					0	0	1	0	0
DIO1	1733	broad.mit.edu	37	1	54360161	54360161	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:54360161C>T	ENST00000361921.3	+	1	302	c.278C>T	c.(277-279)cCa>cTa	p.P93L	DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000532493.1_Missense_Mutation_p.P93L|DIO1_ENST00000388876.3_Missense_Mutation_p.P93L|DIO1_ENST00000322679.6_Missense_Mutation_p.P93L|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	93					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GGTCTGGCCCCAAACTGCCCG	0.547000													25	190					0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402681	33402681	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:33402681C>G	ENST00000373456.7	-	9	1924	c.1925G>C	c.(1924-1926)tGt>tCt	p.C642S	RNF19B_ENST00000235150.4_Missense_Mutation_p.C641S|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	642						integral to membrane	ligase activity|protein binding|zinc ion binding	p.C451S(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTTCTGTTCACAGCTTTGGTG	0.552000													6	331					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21892083	21892083	+	Splice_Site	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:21892083A>T	ENST00000328843.6	+	68	10948		c.e68-1		DNAH11_ENST00000409508.3_Splice_Site			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTTTTATTAGTTGGTATTG	0.403000									Kartagener syndrome				10	103					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544277	154544277	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:154544277C>A	ENST00000368476.3	+	5	1242	c.978C>A	c.(976-978)ccC>ccA	p.P326P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	326					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACCGCTCGCCCACCACGCACA	0.632000													6	151					0.0293803	0.0295265	1	1	0
FN1	2335	broad.mit.edu	37	2	216236992	216236992	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:216236992C>A	ENST00000354785.4	-	40	6723	c.6354G>T	c.(6352-6354)ggG>ggT	p.G2118G	FN1_ENST00000446046.1_Silent_p.G2002G|FN1_ENST00000432072.2_Intron|FN1_ENST00000421182.1_Silent_p.G1912G|FN1_ENST00000359671.1_Silent_p.G2027G|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000346544.3_Intron|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000345488.5_Intron|FN1_ENST00000323926.6_Silent_p.G2118G			P02751	FINC_HUMAN	fibronectin 1	2027	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G2027G(1)|p.G2118G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTGTCATACCCAGGGTGGG	0.498000													67	104					1.34159e-35	1.66259e-35	1	1	0
C22orf42	150297	broad.mit.edu	37	22	32546391	32546391	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:32546391A>G	ENST00000382097.3	-	7	641	c.569T>C	c.(568-570)cTa>cCa	p.L190P		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	190										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						AGAGACAGATAGGCTTTCACT	0.438000													4	194					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70462203	70462203	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:70462203C>T	ENST00000373998.1	-	23	4280	c.3583G>A	c.(3583-3585)Gtc>Atc	p.V1195I	ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1209I|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1207I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V1207I|ZMYM3_ENST00000373984.3_Intron	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1207					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGAGGAGGACAAAGGGCGAG	0.537000													19	174					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44198568	44198568	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:44198568G>A	ENST00000393841.1	+	9	1199	c.708G>A	c.(706-708)caG>caA	p.Q236Q	SLC29A1_ENST00000371731.1_Silent_p.Q236Q|SLC29A1_ENST00000371740.5_Silent_p.Q236Q|SLC29A1_ENST00000371724.1_Silent_p.Q236Q|SLC29A1_ENST00000313248.7_Silent_p.Q315Q|SLC29A1_ENST00000393844.1_Silent_p.Q236Q|SLC29A1_ENST00000371713.1_Silent_p.Q236Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.Q236Q|SLC29A1_ENST00000371755.3_Silent_p.Q236Q|SLC29A1_ENST00000427851.2_Silent_p.Q236Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	236					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GCTACTACCAGCAGCTCAAGC	0.542000													4	352					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48852194	48852194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:48852194G>A	ENST00000314191.2	-	11	1086	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q344*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	344					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCATAAAACTGCTCCATAAAG	0.318000								Non-homologous end-joining					4	65					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71876416	71876416	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:71876416C>T	ENST00000307864.1	-	7	944	c.731G>A	c.(730-732)gGc>gAc	p.G244D	AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.G244D	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	244					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GATCTTGATGCCGGTGCAGAG	0.567000											OREG0020234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	248					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443935	5443935	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:5443935C>T	ENST00000300778.4	+	1	595	c.505C>T	c.(505-507)Cct>Tct	p.P169S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGCGACTGCCTTTCTGCCA	0.517000													7	695					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119149404	119149404	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:119149404A>G	ENST00000264033.4	+	9	1788	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	471	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)		TTCATGATGAAGGAATTGGCT	0.463000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				3	137					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856668	72856668	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:72856668A>G	ENST00000339594.4	-	19	4648	c.4310T>C	c.(4309-4311)gTg>gCg	p.V1437A	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1437					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.V1437A(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAACAGAGCCACTAGACACTG	0.493000													13	138					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763992	110763992	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:110763992C>T	ENST00000451085.1	+	4	2210	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000422987.3_Silent_p.F388F|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Silent_p.F388F|IMMP2L_ENST00000437687.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	388	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACATTCGATTCATGGAGCCAG	0.463000													7	187					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124377846	124377846	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:124377846C>A	ENST00000409039.3	+	52	8733	c.8708C>A	c.(8707-8709)gCt>gAt	p.A2903D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2903	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGACAGGAAGCTCTGAAGCAA	0.498000													4	175					0.184627	0.184627	1	1	0
KAT8	84148	broad.mit.edu	37	16	31141445	31141445	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:31141445G>A	ENST00000543774.2	+	8	1214	c.879G>A	c.(877-879)cgG>cgA	p.R293R	KAT8_ENST00000219797.4_Silent_p.R293R|KAT8_ENST00000448516.2_Silent_p.R293R			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	293					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										AGGTGGACCGGCAGGGGGCCC	0.577000													5	410					0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40222097	40222097	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:40222097G>A	ENST00000221804.4	-	4	427	c.352C>T	c.(352-354)Cct>Tct	p.P118S		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	118	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ACAGCCTCAGGCTTGATTCTA	0.398000													8	685					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142691426	142691426	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:142691426G>A	ENST00000230173.6	+	4	1041	c.565G>A	c.(565-567)Gca>Aca	p.A189T	GPR126_ENST00000296932.8_Missense_Mutation_p.A189T|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000367608.2_Missense_Mutation_p.A189T|GPR126_ENST00000545477.1_Intron	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	189	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A189T(1)|p.A188T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTGCTTTGAAGCAACCAAAGT	0.438000													24	97					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226340280	226340280	+	Silent	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:226340280T>G	ENST00000366812.5	-	7	1185	c.1131A>C	c.(1129-1131)cgA>cgC	p.R377R	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	377					steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGATCTGAGGTCGTGTCCACA	0.468000													7	259					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155303879	155303879	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:155303879C>T	ENST00000460012.1	-	5	842	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	PLCH1_ENST00000447496.2_Missense_Mutation_p.R180Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R162Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R180Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R162Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R180Q			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	180	EF-hand 1.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTTTTCTTCGGGGCAGATT	0.363000													90	349					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795583	33795583	+	Silent	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:33795583C>A	ENST00000261326.5	+	8	1461	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	480					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	ATGTCCAGGCCTTTCTTAGGT	0.552000													15	160					8.00594e-06	8.88571e-06	1	1	0
RFX2	5990	broad.mit.edu	37	19	6013023	6013023	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:6013023C>T	ENST00000303657.5	-	8	1022	c.873G>A	c.(871-873)cgG>cgA	p.R291R	RFX2_ENST00000359161.3_Silent_p.R291R|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.R266R	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGGCTGCTGCCGCATGGCCA	0.617000													5	372					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802543	137802543	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:137802543C>T	ENST00000239938.4	+	2	677	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	135					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTATACTGGCCGCTTTTCCC	0.582000													5	92					0	0	1	0	0
PAQR3	152559	broad.mit.edu	37	4	79845029	79845029	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:79845029G>T	ENST00000512733.1	-	5	988	c.775C>A	c.(775-777)Cca>Aca	p.P259T	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.P259T|PAQR3_ENST00000515541.1_Intron	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	259						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TACCGCTCTGGGACTTTGGAA	0.373000													13	183					6.81908e-15	8.3482e-15	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99955907	99955907	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:99955907C>T	ENST00000372981.1	-	5	711	c.525G>A	c.(523-525)cgG>cgA	p.R175R	SYTL4_ENST00000276141.6_Silent_p.R175R|SYTL4_ENST00000263033.5_Silent_p.R175R|SYTL4_ENST00000454200.2_Silent_p.R175R|SYTL4_ENST00000372989.1_Silent_p.R175R|SYTL4_ENST00000455616.1_Silent_p.R175R			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	175					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTCCTTCTGCCGCTCCTGAA	0.383000													4	330					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11411762	11411762	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:11411762C>G	ENST00000304623.8	-	5	514	c.325G>C	c.(325-327)Ggt>Cgt	p.G109R	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G18R|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	109					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTTGACCATCTGAAATG	0.338000													15	40					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119024975	119024975	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:119024975C>T	ENST00000307417.3	+	4	726	c.362C>T	c.(361-363)tCt>tTt	p.S121F	ABCG4_ENST00000531739.1_Missense_Mutation_p.S121F|ABCG4_ENST00000449422.2_Missense_Mutation_p.S121F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	121	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCAGGGAGTCTGGAATGAAG	0.542000													5	208					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111591712	111591712	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:111591712A>C	ENST00000304987.3	+	12	2043	c.1870A>C	c.(1870-1872)Ata>Cta	p.I624L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	624					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I624L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGAACAAATAGGACCGGA	0.507000													3	208					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748947	10748947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:10748947C>T	ENST00000586078.1	+	20	1994	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	SLC44A2_ENST00000335757.5_Nonsense_Mutation_p.Q629*|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.Q627*	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	629					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CAGGATCGTGCAGGATACAGC	0.502000													5	558					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155252835	155252835	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:155252835C>A	ENST00000357232.3	-	10	2264	c.2265G>T	c.(2263-2265)tgG>tgT	p.W755C	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	755	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CACCATCTGCCCAGGTTATGA	0.468000													5	48					0.0215528	0.0219882	1	1	0
PAX7	5081	broad.mit.edu	37	1	18962797	18962797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:18962797C>T	ENST00000420770.2	+	4	601	c.518C>T	c.(517-519)gCg>gTg	p.A173V	PAX7_ENST00000375375.3_Missense_Mutation_p.A173V|PAX7_ENST00000400661.3_Missense_Mutation_p.A171V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	173					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		gaggatgaagcggacaagaag	0.527000			T	FOXO1A	alveolar rhabdomyosarcoma								4	166					0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579034	41579034	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:41579034G>T	ENST00000402904.2	-	8	1004	c.636C>A	c.(634-636)tgC>tgA	p.C212*	SCMH1_ENST00000326197.7_Nonsense_Mutation_p.C212*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.C165*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.C165*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.C222*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.C151*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.C192*	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	212					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AGTCGAAGCGGCACCAGTAGT	0.567000													3	70					2.56e-06	2.87289e-06	1	1	0
BID	637	broad.mit.edu	37	22	18220987	18220987	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:18220987G>C	ENST00000317361.7	-	5	836	c.510C>G	c.(508-510)aaC>aaG	p.N170K	BID_ENST00000399767.1_Missense_Mutation_p.N28K|BID_ENST00000551952.1_Missense_Mutation_p.N124K|BID_ENST00000399774.3_Missense_Mutation_p.N124K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000342111.5_3'UTR	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	124					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	p.N170K(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CCAGGTCCCTGTTCCGGTCCT	0.557000													61	36					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37428925	37428925	+	Silent	SNP	A	A	T	rs148813970	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:37428925A>T	ENST00000234170.5	-	16	3292	c.3147T>A	c.(3145-3147)acT>acA	p.T1049T	AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397226.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1049					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTGTTTTTTAGTTTTTTGAG	0.294000													3	21					0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172196066	172196066	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:172196066T>A	ENST00000375258.3	-	4	451		c.e4-2					B3KW44	B3KW44_HUMAN	methyltransferase like 8								methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						CATACTTAACTAAAATAAAGA	0.269000													4	75					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524564	37524564	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:37524564G>A	ENST00000216223.5	-	10	1426	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	410					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCTGACAGAGGCTGCAGGGGT	0.652000													3	38					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627366	21627366	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:21627366C>A	ENST00000425654.2	+	19	2713	c.2233C>A	c.(2233-2235)Cca>Aca	p.P745T	CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P775T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775T	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	775					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATTGAGACGCCACTGACAAG	0.562000													22	172					2.44723e-14	2.97796e-14	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													3	94					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743472	98743472	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:98743472G>T	ENST00000286067.2	+	1	2432	c.2325G>T	c.(2323-2325)gaG>gaT	p.E775D		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	775										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCCTAGATGAGGACGATGTTG	0.473000													4	124					2.0095e-06	2.2677e-06	1	1	0
CCDC62	84660	broad.mit.edu	37	12	123273471	123273471	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:123273471T>A	ENST00000253079.6	+	5	1009	c.665T>A	c.(664-666)cTa>cAa	p.L222Q	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000537566.1_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	222						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTCAACAAACTAAAAGGTAAG	0.358000													4	111					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388456	1388456	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:1388456G>A	ENST00000324803.4	+	1	3117	c.157G>A	c.(157-159)Gcc>Acc	p.A53T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	53					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CATGTGGAGTGCCCGCCTGCT	0.642000													25	90					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008695	73008695	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:73008695G>A	ENST00000313375.3	-	16	2396	c.2349C>T	c.(2347-2349)aaC>aaT	p.N783N	MLXIPL_ENST00000395189.1_Silent_p.N690N|MLXIPL_ENST00000354613.1_Silent_p.N762N|MLXIPL_ENST00000434326.1_Silent_p.N689N|MLXIPL_ENST00000429400.2_Silent_p.N764N|MLXIPL_ENST00000414749.2_Silent_p.N781N	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	783					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACACCATCCCGTTGAAGGACT	0.637000													6	127					0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181021607	181021607	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:181021607G>C	ENST00000367580.5	+	4	846	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.E236Q|MR1_ENST00000282990.6_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CTGTCATGTGGAGCACTGCGG	0.547000													12	75					0	0	1	0	0
YPEL1	29799	broad.mit.edu	37	22	22064992	22064992	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:22064992C>T	ENST00000339468.3	-	2	425	c.42G>A	c.(40-42)ctG>ctA	p.L14L	YPEL1_ENST00000403503.1_Silent_p.L14L	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	14						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GACAGTTCGGCAGATACGCTT	0.512000													7	795					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35506818	35506818	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:35506818T>C	ENST00000353139.5	-	45	6130	c.5649A>G	c.(5647-5649)ttA>ttG	p.L1883L	ACACA_ENST00000335166.5_Silent_p.L1768L|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Silent_p.L1846L|ACACA_ENST00000360679.3_Silent_p.L1788L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1846	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGTTAGAATTAAGTGAGAAT	0.423000													6	287					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49447312	49447312	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:49447312G>A	ENST00000301067.7	-	6	785	c.786C>T	c.(784-786)gcC>gcT	p.A262A		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.A262D(2)|p.A262A(2)|p.L260fs*8(1)									CACGTTTGCGGGCAGTCAGAG	0.577000													11	54					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484587	45484587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:45484587G>A	ENST00000359600.5	-	14	3302	c.3097C>T	c.(3097-3099)Cag>Tag	p.Q1033*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1033							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGAGTATCCTGGTTGTAGGCC	0.577000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	313					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97297120	97297120	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:97297120C>T	ENST00000599854.1	-	3	521	c.54G>A	c.(52-54)cgG>cgA	p.R18R	KANSL3_ENST00000441706.2_Silent_p.R18R|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000435669.1_Silent_p.R18R|KANSL3_ENST00000431828.1_Silent_p.R105R|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	105																	AGATGACATGCCGTTCACACT	0.527000													3	69					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:183495733A>T	ENST00000367537.3	+	6	597	c.402A>T	c.(400-402)ttA>ttT	p.L134F	SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	105					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCTTTTAGTTATTACAAGAAC	0.348000													5	154					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100506047	100506047	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:100506047A>G	ENST00000395209.3	+	16	2367	c.1840A>G	c.(1840-1842)Agg>Ggg	p.R614G	DRP2_ENST00000538510.1_Missense_Mutation_p.R614G|DRP2_ENST00000541709.1_Missense_Mutation_p.R536G|DRP2_ENST00000402866.1_Missense_Mutation_p.R614G	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	614					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTCTATCTGTAGGCAGTGCCC	0.463000													4	332					0	0	1	0	0
MICU2	221154	broad.mit.edu	37	13	22067484	22067484	+	Silent	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:22067484T>C	ENST00000382374.4	-	12	1274	c.1209A>G	c.(1207-1209)caA>caG	p.Q403Q	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1			mitochondrial calcium uptake 2									p.Q403Q(1)									TACTCTGATGTTGTGGTACCT	0.333000													21	85					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39919273	39919273	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:39919273T>G	ENST00000393931.3	-	8	1577	c.1459A>C	c.(1459-1461)Aag>Cag	p.K487Q	JUP_ENST00000393930.1_Missense_Mutation_p.K487Q|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.K487Q	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	487					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	p.K487Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTGAGCAGCTTCACGATGGCT	0.607000													19	63					0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8928107	8928107	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:8928107C>T	ENST00000234590.4	-	5	369	c.250G>A	c.(250-252)Gtc>Atc	p.V84I		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	84					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCTGTGACGTTCAGTTTC	0.478000													18	3348					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591810	70591810	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:70591810C>T	ENST00000260126.3	-	8	2533	c.1827G>A	c.(1825-1827)gtG>gtA	p.V609V	SLCO5A1_ENST00000524945.1_Silent_p.V609V|SLCO5A1_ENST00000530307.1_Silent_p.V554V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	609						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTGGAGTGATCACTTGGCGAC	0.458000													13	466					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21733438	21733438	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:21733438C>T	ENST00000261195.2	-	2	395	c.141G>A	c.(139-141)gtG>gtA	p.V47V		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	47					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTCTGAATCACAGTATAGA	0.353000													10	148					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207631976	207631976	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:207631976G>A	ENST00000236980.6	+	2	907	c.559G>A	c.(559-561)Gca>Aca	p.A187T	FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	187					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTATTTCACAGCAATGTGGAC	0.408000													4	418					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:106237582C>T	ENST00000390551.2	-	0	160																											GTAGGACAGCCGGGAAGGTGT	0.637000													4	172					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736257	140736257	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140736257A>G	ENST00000571252.1	+	1	1490	c.1490A>G	c.(1489-1491)cAg>cGg	p.Q497R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACCTTCCAGGGTGCACCT	0.512000													5	301					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015865	145015865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:145015865C>A	ENST00000369359.4	-	3	474	c.436G>T	c.(436-438)Gag>Tag	p.E146*	PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E75*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	9					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTACCTTCTCAAAGTCTCGA	0.443000			T	PDGFRB	MPD								15	1884					7.48243e-07	8.53927e-07	1	1	0
HOXD13	3239	broad.mit.edu	37	2	176959247	176959247	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:176959247G>T	ENST00000392539.3	+	2	821	c.821G>T	c.(820-822)cGa>cTa	p.R274L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	274					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		TGCGTCTACCGAAGAGGGAGG	0.468000			T	NUP98	AML*								7	78					0.0293803	0.0295265	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20658745	20658745	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:20658745T>C	ENST00000525748.1	+	12	2038	c.1765T>C	c.(1765-1767)Tcc>Ccc	p.S589P	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	589					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CATAGTGACCTCCATCTCAGA	0.483000													4	460					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43799003	43799003	+	Splice_Site	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:43799003T>A	ENST00000403856.1	-	14	2056		c.e14-2		THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000405006.4_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000330266.7_Splice_Site			Q6YHU6	THADA_HUMAN	thyroid adenoma associated								binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCCTTACCTAAAAAACATC	0.318000													4	121					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100361427	100361427	+	RNA	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:100361427A>G	ENST00000542585.1	+	0	4134				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.?(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTCTCTTGCAGGTGTCAGAA	0.587000													24	100					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4153518	4153518	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:4153518A>T	ENST00000300738.5	+	16	1976	c.1772A>T	c.(1771-1773)tAt>tTt	p.Y591F	RRM1_ENST00000537197.1_Missense_Mutation_p.Y253F|RRM1_ENST00000534285.1_Missense_Mutation_p.Y369F|RRM1_ENST00000423050.2_Missense_Mutation_p.Y494F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	591					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TTCTTTAGGTATGGTATAAGA	0.408000													4	125					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26492018	26492018	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:26492018G>A	ENST00000265944.5	+	34	4878	c.4712G>A	c.(4711-4713)tGt>tAt	p.C1571Y	MYO3A_ENST00000478093.1_3'UTR|MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1571					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGAATCAATGTATTAAGGCT	0.318000													32	145					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369991	20369991	+	RNA	SNP	T	T	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:20369991T>C	ENST00000593655.1	-	0	199																											GTCATCACGGTTGAAACGAGA	0.413000													17	117					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371797	139371797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:139371797C>T	ENST00000313050.7	-	1	344	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2055					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACAAGCAAACCGGGGTGCTGA	0.587000													4	358					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949408	97949408	+	Silent	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:97949408G>A	ENST00000005260.8	-	5	525	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	104	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTCTTCTCCAGCTCATGGATA	0.403000													5	933					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201970826	201970826	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:201970826G>A	ENST00000295640.4	+	8	1400	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.D414N	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	453					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CATCTTAGCCGATGACTTTCT	0.488000													4	348					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740059	140740059	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140740059A>G	ENST00000522605.1	+	1	357	c.357A>G	c.(355-357)atA>atG	p.I119M	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTACATAGCAGTAATTG	0.383000													5	776					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671044	25671044	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:25671044A>G	ENST00000281589.3	+	1	745	c.708A>G	c.(706-708)gtA>gtG	p.V236V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	236	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTGGATTTGTAAGCTTTGAAA	0.418000													8	1400					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331192	77331192	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:77331192G>A	ENST00000282849.5	-	18	3213	c.2795C>T	c.(2794-2796)cCg>cTg	p.P932L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	932	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TTACTAAGCCGGGCAGGAGAA	0.398000													4	436					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580124	140580124	+	Translation_Start_Site	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:140580124G>A	ENST00000536699.1	+	0	245				PCDHB11_ENST00000354757.3_Silent_p.S259S			Q9Y5F2	PCDBB_HUMAN							calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTTGGCTCGCTGATTTTGA	0.438000													5	352					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19766760	19766760	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:19766760G>T	ENST00000329705.7	+	9	1156	c.1027G>T	c.(1027-1029)Gac>Tac	p.D343Y	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	343					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TGTCCTGAAGGACAAGGAAGT	0.537000													19	148					3.51602e-12	4.22759e-12	1	1	0
C1orf43	25912	broad.mit.edu	37	1	154184845	154184845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:154184845G>A	ENST00000368521.5	-	6	715	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	C1orf43_ENST00000368519.1_Nonsense_Mutation_p.Q155*|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.Q121*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.Q173*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.Q139*|C1orf43_ENST00000350592.3_Nonsense_Mutation_p.Q139*	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	173						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCATTCTGGCCAAAGACC	0.522000													6	1083					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52427899	52427899	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr15:52427899G>T	ENST00000261837.7	-	8	747	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.Q116K|GNB5_ENST00000358784.7_Missense_Mutation_p.Q186K|GNB5_ENST00000559348.1_5'UTR	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	228						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TGCAGCAGCTGCCCGCTCTCC	0.597000													8	209					1.76689e-08	2.06308e-08	1	1	0
KRT85	3891	broad.mit.edu	37	12	52755264	52755264	+	Silent	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:52755264G>T	ENST00000257901.3	-	8	1392	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	KRT85_ENST00000544265.1_Silent_p.G227G	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	439	Tail.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATTCACAGAGCCCACACCTT	0.463000													130	822					9.36667e-95	1.16794e-94	1	1	0
PC	5091	broad.mit.edu	37	11	66617533	66617533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:66617533C>A	ENST00000393960.1	-	20	3054	c.2773G>T	c.(2773-2775)Gga>Tga	p.G925*	PC_ENST00000529047.1_Nonsense_Mutation_p.G45*|PC_ENST00000393955.2_Nonsense_Mutation_p.G925*|PC_ENST00000393958.2_Nonsense_Mutation_p.G925*	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	925					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGGCTCAATCCATTCTGCACC	0.637000													3	61					6.4e-05	6.98811e-05	1	1	0
FCAR	2204	broad.mit.edu	37	19	55401088	55401088	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:55401088C>A	ENST00000391723.3	+	4	613	c.613C>A	c.(613-615)Ctt>Att	p.L205I	FCAR_ENST00000353758.4_Silent_p.L132L|FCAR_ENST00000391725.3_Silent_p.L219L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Silent_p.L133L|FCAR_ENST00000359272.4_Silent_p.L229L|FCAR_ENST00000391724.3_Silent_p.L207L|FCAR_ENST00000345937.4_Silent_p.L145L|FCAR_ENST00000355524.3_Silent_p.L241L	NM_133274.2	NP_579808.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TCGTGGCTCTCTTGGCCATAC	0.537000													6	322					8.12818e-05	8.82738e-05	1	1	0
VEZT	55591	broad.mit.edu	37	12	95694432	95694432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:95694432G>T	ENST00000436874.1	+	12	2428	c.2323G>T	c.(2323-2325)Gag>Tag	p.E775*	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Nonsense_Mutation_p.E727*	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	775						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AAATAAAAATGAGATAGAAGA	0.368000													3	32					0.004672	0.00486466	1	1	0
TLR7	51284	broad.mit.edu	37	X	12903798	12903798	+	Silent	SNP	A	A	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chrX:12903798A>G	ENST00000380659.3	+	3	310	c.171A>G	c.(169-171)acA>acG	p.T57T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	57					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGCATTTGACAGAAATTCCTG	0.498000													5	787					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178050411	178050411	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:178050411G>A	ENST00000316308.4	-	2	175	c.7C>T	c.(7-9)Cat>Tat	p.H3Y	CLK4_ENST00000520957.1_Missense_Mutation_p.H3Y	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	3						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTTTTGGAATGCCGCATCTGT	0.378000													4	157					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73225581	73225581	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:73225581C>T	ENST00000377110.2	-	18	2818	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	TRPM3_ENST00000358082.3_Missense_Mutation_p.G721S|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708S|TRPM3_ENST00000377111.2_Missense_Mutation_p.G859S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721S|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706S|TRPM3_ENST00000396292.4_Missense_Mutation_p.G731S|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886S|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718S|TRPM3_ENST00000377106.1_Missense_Mutation_p.G731S|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	884						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATTTTTCTGCCGAGGGGGATT	0.473000													6	623					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427127	97427127	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:97427127G>A	ENST00000377075.2	+	1	489	c.391G>A	c.(391-393)Gtg>Atg	p.V131M		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	131					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CACGTCCGGCGTGCTGGTGGT	0.657000													3	108					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969065	5969065	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:5969065C>T	ENST00000329564.6	+	1	496	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCCCATCCCCATCCTTT	0.443000													6	236					0	0	1	0	0
MLF2	8079	broad.mit.edu	37	12	6859100	6859100	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:6859100C>A	ENST00000203630.5	-	7	1117	c.473G>T	c.(472-474)cGg>cTg	p.R158L	MLF2_ENST00000542154.1_Missense_Mutation_p.R158L|MLF2_ENST00000539187.1_Missense_Mutation_p.R158L|MLF2_ENST00000435120.1_Missense_Mutation_p.R158L			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	158					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AGCCCTGTCCCGGATGTGATG	0.597000													7	183					0.0293803	0.0295265	1	1	0
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4									p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378000													3	52					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47958049	47958049	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:47958049T>A	ENST00000426837.2	-	8	1406	c.1319A>T	c.(1318-1320)gAc>gTc	p.D440V	MAP4_ENST00000395734.3_Missense_Mutation_p.D423V|MAP4_ENST00000360240.6_Missense_Mutation_p.D423V|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	423	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGATATAATGTCATTAGCCTG	0.493000													6	565					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56531150	56531150	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:56531150G>A	ENST00000394048.5	+	17	2195	c.1931G>A	c.(1930-1932)gGg>gAg	p.G644E	ESYT1_ENST00000267113.4_Missense_Mutation_p.G654E|ESYT1_ENST00000541590.1_Missense_Mutation_p.G654E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	644	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGCCAGTTTGGGACTGAGGTG	0.547000													3	124					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495254	32495254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:32495254C>A	ENST00000266088.4	+	12	1615	c.1365C>A	c.(1363-1365)taC>taA	p.Y455*	SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.Y328*	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	455					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCTTCGATTACATCCAGTCCA	0.502000													6	599					0.00307968	0.00324008	1	1	0
ERRFI1	54206	broad.mit.edu	37	1	8073803	8073804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:8073803_8073804insG	ENST00000377482.5	-	4	1078_1079	c.855_856insC	c.(853-858)ccgagtfs	p.S286fs	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	286					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGGAACTCTGGGGGGAACCT	0.475													7	537	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													10	549	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													4	4	---	---	---	---					
RAP1GAP	5909	broad.mit.edu	37	1	21936093	21936094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:21936093_21936094insG	ENST00000542643.2	-	16	1347_1348	c.1045_1046insC	c.(1045-1047)cccfs	p.P349fs	RAP1GAP_ENST00000374765.4_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.P413fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.P380fs	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	349	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCCA	0.634													18	443	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													7	747	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	212	---	---	---	---					
THEMIS2	9473	broad.mit.edu	37	1	28209480	28209481	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:28209480_28209481insC	ENST00000373921.3	+	4	1649_1650	c.1645_1646insC	c.(1645-1647)cccfs	p.P549fs	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Frame_Shift_Ins_p.P420fs|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		TGAGATCCAAGCCCCCCCACCC	0.574													13	302	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													13	494	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636586	36636587	+	Frame_Shift_Ins	INS	-	-	C	rs145462639		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:36636586_36636587insC	ENST00000316156.4	+	2	514_515	c.61_62insC	c.(61-63)cccfs	p.P21fs	MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P21fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P21fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	21	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GGTCGCCAGGACCCCCCCAGAG	0.614													8	340	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													14	1287	---	---	---	---					
TIE1	7075	broad.mit.edu	37	1	43778814	43778815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:43778814_43778815insC	ENST00000372476.3	+	13	2015_2016	c.1936_1937insC	c.(1936-1938)cccfs	p.P646fs	TIE1_ENST00000433781.2_Frame_Shift_Ins_p.P291fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	646	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGCCTCCAGCCCCCCGACAC	0.629													7	147	---	---	---	---					
ELOVL1	64834	broad.mit.edu	37	1	43830227	43830228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:43830227_43830228insC	ENST00000372458.3	-	6	583_584	c.466_467insG	c.(466-468)aaafs	p.K156fs	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Frame_Shift_Ins_p.K129fs	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	156					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCAATCTTTACCCCCCACCAC	0.550													7	314	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													8	1655	---	---	---	---					
ELAVL4	1996	broad.mit.edu	37	1	50666498	50666499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:50666498_50666499insC	ENST00000371821.1	+	7	1121_1122	c.806_807insC	c.(805-807)gccfs	p.A269fs	ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000448907.2_Intron			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	264					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTGGACCAGTCCCCCCTTCTG	0.530													10	460	---	---	---	---					
ZCCHC11	23318	broad.mit.edu	37	1	52981531	52981532	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:52981531_52981532insC	ENST00000355809.4	-	3	1069_1070	c.913_914insG	c.(913-915)aatfs	p.N305fs	ZCCHC11_ENST00000371544.3_Intron|ZCCHC11_ENST00000257177.4_Intron|ZCCHC11_ENST00000371541.1_Intron			Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	0					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AACACACATTTCCCCCCAAATA	0.366													8	196	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													15	304	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													15	227	---	---	---	---					
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.451_splice	c.e4-1	p.A151_splice	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCCA	0.396													9	582	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													7	135	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1518)cccfs	p.P506fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.500													7	114	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													17	318	---	---	---	---					
STXBP3	6814	broad.mit.edu	37	1	109325098	109325098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:109325098delC	ENST00000370008.3	+	10	914	c.864delC	c.(862-864)ctfs	p.L288fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	288					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAGATGACCTCTGGGTTAGAA	0.343													7	377	---	---	---	---					
DENND2D	79961	broad.mit.edu	37	1	111742337	111742338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:111742337_111742338insC	ENST00000357640.4	-	2	379_380	c.150_151insG	c.(148-153)ggagcafs	p.A51fs	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Frame_Shift_Ins_p.A48fs	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	51										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		AAGAAGTGCTGCCCCCCAGCAA	0.485													8	151	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													22	248	---	---	---	---					
HIPK1	204851	broad.mit.edu	37	1	114515697	114515698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:114515697_114515698insC	ENST00000369558.1	+	16	3428_3429	c.3196_3197insC	c.(3196-3198)cccfs	p.P1066fs	HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1066	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAACCCAGCCCCCCGCAGG	0.614													11	344	---	---	---	---					
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)ccafs	p.P1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTGGTTGGTGGGGGGACTCT	0.371													9	753	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													14	294	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													13	543	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													9	182	---	---	---	---					
SV2A	9900	broad.mit.edu	37	1	149885018	149885019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:149885018_149885019insC	ENST00000369146.3	-	2	864_865	c.374_375insG	c.(373-375)gttfs	p.V125fs	SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	125					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629													9	168	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													9	408	---	---	---	---					
ZNF687	57592	broad.mit.edu	37	1	151258868	151258869	+	Frame_Shift_Ins	INS	-	-	TGGG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:151258868_151258869insTGGG	ENST00000368879.2	+	2	199_200	c.101_102insTGGG	c.(100-102)agafs	p.R34fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGAAGAAAATGAGGGGCCTG	0.550													26	371	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													16	288	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152279150	152279151	+	Frame_Shift_Ins	INS	-	-	AGATCCTG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:152279150_152279151insAGATCCTG	ENST00000368799.1	-	3	8246_8247	c.8211_8212insCAGGATCT	c.(8209-8214)tctcctfs	p.P2738fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2738	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTAGAGGAAAGATCCTGAAT	0.594									Ichthyosis				7	131	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324471	152324472	+	In_Frame_Ins	INS	-	-	AGTGGTATCTCT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:152324471_152324472insAGTGGTATCTCT	ENST00000388718.5	-	3	5862_5863	c.5790_5791insAGAGATACCACT	c.(5788-5793)acaaca>acAGAGATACCACTaaca	p.1930_1931TT>TEIPLT	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1930							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCATGTTCAGTGGTATCTC	0.520													22	653	---	---	---	---					
S100A12	6283	broad.mit.edu	37	1	153346338	153346338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:153346338delG	ENST00000368737.3	-	3	361	c.244delC	c.(244-246)tgfs	p.L82fs		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	82	EF-hand 2.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GCAGCCTTCAGCGCAATGGCT	0.448													8	464	---	---	---	---					
TPM3	7170	broad.mit.edu	37	1	154163682	154163682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:154163682delC	ENST00000368530.2	-	2	415	c.223delG	c.(223-225)cafs	p.A75fs	TPM3_ENST00000271850.7_Frame_Shift_Del_p.A75fs	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	74					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTCTTCTCTGCCAGTTCCAGC	0.448			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								55	731	---	---	---	---					
SCAMP3	10067	broad.mit.edu	37	1	155230128	155230129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:155230128_155230129insC	ENST00000355379.3	-	3	580_581	c.302_303insG	c.(301-303)gacfs	p.D101fs	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Frame_Shift_Ins_p.D127fs	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	127					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TACTAGCTGTGCCCCCCAGGGC	0.589													9	382	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													17	551	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													11	465	---	---	---	---					
FMO1	2326	broad.mit.edu	37	1	171227337	171227338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:171227337_171227338insG	ENST00000354841.4	+	1	242_243	c.111_112insG	c.(109-114)ctggggfs	p.LG37fs	FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	37					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGATGACCTTGGGGGGCTGTG	0.530													9	556	---	---	---	---					
ASTN1	460	broad.mit.edu	37	1	177133693	177133694	+	In_Frame_Ins	INS	-	-	GTA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:177133693_177133694insGTA	ENST00000367654.2	-	1	132_133	c.119_120insTAC	c.(118-120)aac>aTACac	p.40_40N>IH	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000424564.2_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000361833.2_In_Frame_Ins_p.40_40N>IH			O14525	ASTN1_HUMAN	astrotactin 1	40					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCGACACCGTGATGCTTTTGAG	0.678													7	61	---	---	---	---					
LAD1	3898	broad.mit.edu	37	1	201352461	201352464	+	Frame_Shift_Del	DEL	TATC	TATC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:201352461_201352464delTATC	ENST00000391967.2	-	6	1530_1533	c.1229_1232delGATA	c.(1228-1233)acfs	p.RY410fs	LAD1_ENST00000367313.3_Frame_Shift_Del_p.RY424fs|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	410						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGCCGTGTGGTATCTCTCCAGCTT	0.608													10	405	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													7	192	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:204924032_204924033insC	ENST00000367172.4	+	7	816_817	c.488_489insC	c.(487-489)accfs	p.T163fs	NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559													10	605	---	---	---	---					
MFSD4	148808	broad.mit.edu	37	1	205566933	205566934	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:205566933_205566934insG	ENST00000367147.4	+	8	1416_1417	c.1323_1324insG	c.(1321-1326)acgggcfs	p.TG441fs	MFSD4_ENST00000536357.1_Frame_Shift_Ins_p.TG354fs|MFSD4_ENST00000539267.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	441					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGCTGGTGACAGGGGCAGGAGT	0.525													10	455	---	---	---	---					
TATDN3	128387	broad.mit.edu	37	1	212988385	212988386	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:212988385_212988386insC	ENST00000366974.4	+	10	806_807	c.712_713insC	c.(712-714)agcfs	p.S238fs	TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Frame_Shift_Ins_p.S245fs|TATDN3_ENST00000366973.4_Frame_Shift_Ins_p.S237fs|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000526641.1_Frame_Shift_Ins_p.S217fs|TATDN3_ENST00000526997.1_3'UTR	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	238						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CATTTCTATTTCAGCAGAATAT	0.431													24	213	---	---	---	---					
PROX1	5629	broad.mit.edu	37	1	214170285	214170286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:214170285_214170286insC	ENST00000366958.4	+	2	1015_1016	c.407_408insC	c.(406-408)accfs	p.T136fs	PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	136					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCAAGAGACAGCCCCCCAGAGT	0.530													8	403	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)cacfs	p.H274fs	TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579													35	568	---	---	---	---					
LYST	1130	broad.mit.edu	37	1	235969934	235969934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr1:235969934delG	ENST00000389794.3	-	6	2676	c.2502delC	c.(2500-2502)gcfs	p.A834fs	LYST_ENST00000389793.2_Frame_Shift_Del_p.A834fs|LYST_ENST00000536965.1_Frame_Shift_Del_p.A834fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	834					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGAACTGAGGCATCTTTCT	0.378													22	447	---	---	---	---					
CAD	790	broad.mit.edu	37	2	27456981	27456982	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:27456981_27456982insC	ENST00000264705.4	+	22	3667_3668	c.3505_3506insC	c.(3505-3507)cccfs	p.P1169fs	CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1169	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GACGCTGGTGACCCCCCCACAA	0.574													7	150	---	---	---	---					
EPAS1	2034	broad.mit.edu	37	2	46611714	46611714	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:46611714delA	ENST00000263734.3	+	16	3038	c.2528delA	c.(2527-2529)gcfs	p.D843fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	843	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCAGATATGACTGTGAGGTG	0.602													63	213	---	---	---	---					
COMMD1	150684	broad.mit.edu	37	2	62373417	62373418	+	RNA	INS	-	-	A	rs76799739		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:62373417_62373418insA	ENST00000425966.2	-	0	251				AC018462.2_ENST00000421323.1_RNA																							ctctacttattaaaaaaaaAAA	0.347													2	4	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				10	472	---	---	---	---					
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.530													7	743	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1002)cggfs	p.R334fs	USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416													9	1109	---	---	---	---					
LONRF2	164832	broad.mit.edu	37	2	100903470	100903472	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:100903470_100903472delTGT	ENST00000393437.3	-	11	2613_2615	c.1974_1976delACA	c.(1972-1977)cag>ca	p.QQ658del	LONRF2_ENST00000409647.1_In_Frame_Del_p.QQ415del	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	658	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGAAACAGACTGTTGATGCACAG	0.488													21	421	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													7	525	---	---	---	---					
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441													2	4	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													7	490	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													9	131	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													16	226	---	---	---	---					
GPR155	151556	broad.mit.edu	37	2	175333792	175333793	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:175333792_175333793delTT	ENST00000392552.2	-	5	1267_1268	c.1029_1030delAA	c.(1027-1032)atccfs	p.IT343fs	GPR155_ENST00000392551.2_Frame_Shift_Del_p.IT343fs|GPR155_ENST00000295500.4_Frame_Shift_Del_p.IT343fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	343					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATCCCTGAGGTTATCTGCAAAA	0.376													70	215	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													42	1060	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													7	250	---	---	---	---					
SCLY	51540	broad.mit.edu	37	2	238976761	238976762	+	Frame_Shift_Ins	INS	-	-	G	rs76625747	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:238976761_238976762insG	ENST00000254663.6	+	3	424_425	c.282_283insG	c.(280-285)atggggfs	p.MG94fs	SCLY_ENST00000429612.2_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000555827.1_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000480859.1_3'UTR|SCLY_ENST00000409736.2_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000422984.2_Intron|UBE2F-SCLY_ENST00000449191.1_3'UTR	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	86					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGAAGATGATAGGGGGGAAACC	0.416													7	148	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													51	684	---	---	---	---					
THAP4	51078	broad.mit.edu	37	2	242573106	242573106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr2:242573106delT	ENST00000407315.1	-	2	897	c.466delA	c.(466-468)ggfs	p.R156fs		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	156							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGGCCGCCCTGGGTGTGGCT	0.642													12	47	---	---	---	---					
TATDN2	9797	broad.mit.edu	37	3	10312538	10312539	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:10312538_10312539insG	ENST00000287652.4	+	4	2723_2724	c.1672_1673insG	c.(1672-1674)gggfs	p.G558fs	TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	558						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTTT	0.505													8	801	---	---	---	---					
SLC6A1	6529	broad.mit.edu	37	3	11059620	11059621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:11059620_11059621insG	ENST00000287766.4	+	4	751_752	c.330_331insG	c.(328-333)atggggfs	p.MG110fs	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	110					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACACCTCCATCGGGGGGCTAGG	0.599													7	177	---	---	---	---					
TCAIM	285343	broad.mit.edu	37	3	44434435	44434436	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:44434435_44434436insT	ENST00000342649.4	+	6	1088_1089	c.661_662insT	c.(661-663)actfs	p.T221fs	TCAIM_ENST00000417237.1_Frame_Shift_Ins_p.T221fs	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		TTTAAAAGATGAACTGTCTCAT	0.327													31	202	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495													13	174	---	---	---	---					
VPRBP	9730	broad.mit.edu	37	3	51457614	51457615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:51457614_51457615insG	ENST00000335891.5	-	7	1471_1472	c.1462_1463insC	c.(1462-1464)gggfs	p.G488fs				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	937					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TAGCGGACCCTGGGGGGGCCGT	0.589													7	285	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52696164	52696164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:52696164delG	ENST00000356770.4	-	4	515	c.513delC	c.(511-513)ggfs	p.G171fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G171fs			Q86U86	PB1_HUMAN	polybromo 1	171					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGTCACTGTGCCCTGATTGT	0.488			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								159	800	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													8	373	---	---	---	---					
ALDH1L1	10840	broad.mit.edu	37	3	125825989	125825992	+	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr3:125825989_125825992delAGCA	ENST00000393434.2	-	21	2794_2797	c.2445_2448delTGCT	c.(2443-2448)ttfs	p.FA815fs	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.FA815fs|ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.FA714fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.FA825fs|ALDH1L1-AS1_ENST00000512384.1_RNA	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	815	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTACCCATCAGCAAACCGAGAGA	0.534													15	228	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccagafs	p.R145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604													15	245	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													15	320	---	---	---	---					
NDNF	79625	broad.mit.edu	37	4	121957791	121957792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:121957791_121957792insT	ENST00000379692.4	-	4	1860_1861	c.1334_1335insA	c.(1333-1335)ctcfs	p.L445fs		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	445	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAGGAAGAGAGGGAAATGACTG	0.446													16	390	---	---	---	---					
ANKRD50	57182	broad.mit.edu	37	4	125590618	125590619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:125590618_125590619insC	ENST00000504087.1	-	4	4850_4851	c.3813_3814insG	c.(3811-3816)ggaatcfs	p.I1272fs	ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1272	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTCTGATTTCCCCCCTTTAC	0.391													9	514	---	---	---	---					
DCLK2	166614	broad.mit.edu	37	4	151177263	151177264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:151177263_151177264insA	ENST00000296550.7	+	16	2919_2920	c.2165_2166insA	c.(2164-2166)cccfs	p.P722fs	DCLK2_ENST00000506325.1_Frame_Shift_Ins_p.P721fs|DCLK2_ENST00000302176.8_Frame_Shift_Ins_p.P739fs	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	722	Pro-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCTCCAGTTCCTCCCTCAGTGG	0.649													11	70	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	430	Platelet aggregation and Staphylococcus clumping.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCTGTTTGGCTCCCCCCAGGTG	0.450													9	687	---	---	---	---					
DDX60	55601	broad.mit.edu	37	4	169201620	169201621	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:169201620_169201621insA	ENST00000393743.3	-	14	2134_2135	c.1843_1844insT	c.(1843-1845)tttfs	p.F615fs		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	615							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAGTGTAAATTTTCTTTCAAT	0.366													8	198	---	---	---	---					
GPM6A	2823	broad.mit.edu	37	4	176622884	176622885	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr4:176622884_176622885insC	ENST00000280187.7	-	3	116_117	c.71_72insG	c.(70-72)gatfs	p.D24fs	GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.D13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.D24fs|GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.D17fs	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	24						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATAGGGAATGCCCCCCAGGCA	0.431													11	275	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	32090267	32090268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:32090267_32090268insC	ENST00000438447.1	+	20	7101_7102	c.6713_6714insC	c.(6712-6714)cccfs	p.P2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					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						CGGGAGGGTCACCCCCCACACA	0.639													12	634	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													21	913	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													8	184	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)aaafs	p.K413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTCTTTTCCAAAAAATGGGA	0.401													9	769	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													19	613	---	---	---	---					
ERAP1	51752	broad.mit.edu	37	5	96136598	96136598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:96136598delC	ENST00000296754.3	-	3	887	c.630delG	c.(628-630)gafs	p.E210fs	ERAP1_ENST00000443439.2_Frame_Shift_Del_p.E210fs	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	210					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GGTGCCTTGGCTCTCTTCTAA	0.438													18	320	---	---	---	---					
HSPA4	3308	broad.mit.edu	37	5	132432907	132432907	+	Frame_Shift_Del	DEL	G	G	-	rs143003242	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:132432907delG	ENST00000304858.2	+	15	2147	c.1858delG	c.(1858-1860)cafs	p.A620fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	620					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAAGAACGCAGTGGAGGA	0.373													9	381	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	152					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574													10	166	---	---	---	---					
PCDHGC3	5098	broad.mit.edu	37	5	140857727	140857728	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:140857727_140857728insC	ENST00000308177.3	+	1	2148_2149	c.2044_2045insC	c.(2044-2046)cccfs	p.P682fs	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGCTCTGCCCCCCGGGAG	0.515											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	282	---	---	---	---					
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)agcfs	p.S462fs	FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									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)			GGCCAGGGCTTGGGGGGCAGGC	0.589													7	134	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													9	495	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													9	261	---	---	---	---					
GLRA1	2741	broad.mit.edu	37	5	151202402	151202403	+	Frame_Shift_Ins	INS	-	-	G	rs62636581	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:151202402_151202403insG	ENST00000274576.4	-	9	1473_1474	c.1181_1182insC	c.(1180-1182)cccfs	p.P394fs	GLRA1_ENST00000545569.1_Frame_Shift_Ins_p.P311fs|GLRA1_ENST00000455880.2_Frame_Shift_Ins_p.P402fs	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	402					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGTGCAGGAGGGGGGTTGGT	0.550													9	1838	---	---	---	---					
GALNT10	55568	broad.mit.edu	37	5	153789314	153789315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:153789314_153789315insG	ENST00000297107.6	+	9	1515_1516	c.1378_1379insG	c.(1378-1380)gggfs	p.G460fs	GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	460	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCAGCTTGGGGGGAGGTG	0.535													7	294	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1738-1743)ccggggfs	p.PG580fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.550													10	428	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													26	878	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													30	671	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													11	208	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													13	365	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													17	938	---	---	---	---					
FAM65B	9750	broad.mit.edu	37	6	24873930	24873931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:24873930_24873931insG	ENST00000259698.4	-	3	373_374	c.198_199insC	c.(196-201)ccaagafs	p.R67fs	FAM65B_ENST00000538035.1_Frame_Shift_Ins_p.R96fs|FAM65B_ENST00000540914.1_Frame_Shift_Ins_p.R67fs|FAM65B_ENST00000378023.4_Frame_Shift_Ins_p.R67fs|FAM65B_ENST00000510784.2_Frame_Shift_Ins_p.R101fs	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	67	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAGGCTCTTTGGGGGGATTGT	0.426													9	902	---	---	---	---					
HLA-G	3135	broad.mit.edu	37	6	29797195	29797196	+	Splice_Site	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:29797195_29797196insC	ENST00000428701.1	+	5	798_799	c.619_splice	c.e5-1	p.A207_splice	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Splice_Site_p.T115_splice|HLA-G_ENST00000376828.2_Splice_Site_p.A212_splice|HLA-G_ENST00000360323.6_Splice_Site_p.A207_splice	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	207	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCCTTTCAGACCCCCCCAAGA	0.540													7	231	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:31608920_31608921insC	ENST00000404765.2	-	20	3036_3037	c.2747_2748insG	c.(2746-2748)gcafs	p.A916fs	BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515													10	486	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													7	293	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32029262	32029263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:32029262_32029263insC	ENST00000375244.3	-	21	7604_7605	c.7403_7404insG	c.(7402-7404)gctfs	p.A2468fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.A2468fs			P22105	TENX_HUMAN	tenascin XB	2528					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTCCAGGCCCCCCACGGT	0.683													9	483	---	---	---	---					
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gctfs	p.A158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCTATGAGCTCCCCCCAAGTT	0.589													15	493	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33178989	33178990	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:33178989_33178990insG	ENST00000374656.4	+	5	718_719	c.510_511insG	c.(508-513)agggggfs	p.RG170fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	170	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAACGATGAGTGGGGGGGAAGG	0.619													25	759	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33179568	33179568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:33179568delT	ENST00000374656.4	+	6	1116	c.908delT	c.(907-909)atfs	p.I303fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	303	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCCTGCGCATTGCCCTCGAG	0.642													49	290	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33405504	33405505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:33405504_33405505insC	ENST00000418600.2	+	8	923_924	c.822_823insC	c.(820-825)ctccccfs	p.LP274fs	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	274	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGGAGCTGCCCCCCAAGAA	0.599													11	424	---	---	---	---					
TCP11	6954	broad.mit.edu	37	6	35108559	35108560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:35108559_35108560insG	ENST00000311875.5	-	2	544_545	c.127_128insC	c.(127-129)ggafs	p.G43fs	TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.G43fs|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000512012.1_Frame_Shift_Ins_p.G30fs|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000412155.2_Intron			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	30					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTTGTCTTCCTGGGGGGGTCCT	0.639													7	167	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	183	---	---	---	---					
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:36068005_36068006insC	ENST00000229795.3	+	9	1170_1171	c.723_724insC	c.(721-726)acccccfs	p.TP241fs	MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229794.4_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	241	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426													8	256	---	---	---	---					
FOXP4	116113	broad.mit.edu	37	6	41564917	41564921	+	Frame_Shift_Del	DEL	CCCCA	CCCCA	-	rs6911720		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:41564917_41564921delCCCCA	ENST00000373060.1	+	15	2120_2124	c.1662_1666delCCCCA	c.(1660-1668)agccfs	p.SPT554fs	FOXP4_ENST00000307972.4_Frame_Shift_Del_p.SPT554fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.SPT552fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.SPT542fs|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.SPT541fs	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	554					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTCCAGGAGCCCCACCCTGGTGAA	0.546													10	178	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					18	309	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													10	477	---	---	---	---					
HIVEP2	3097	broad.mit.edu	37	6	143074371	143074371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:143074371delG	ENST00000367603.2	-	10	7956	c.7214delC	c.(7213-7215)gtfs	p.A2405fs	HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.A2405fs|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Frame_Shift_Del_p.A2405fs	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGTGGAGTGAGCTAATGGAGT	0.468													8	598	---	---	---	---					
PHACTR2	9749	broad.mit.edu	37	6	144086745	144086746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:144086745_144086746insC	ENST00000427704.2	+	6	1139_1140	c.1009_1010insC	c.(1009-1011)cccfs	p.P337fs	PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.P257fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.P325fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.P268fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.P348fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	337							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTCTCCTCTGGCCCCCCCTCTC	0.584													8	110	---	---	---	---					
OPRM1	4988	broad.mit.edu	37	6	154412190	154412191	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:154412190_154412191insCT	ENST00000414028.2	+	3	797_798	c.747_748insCT	c.(745-750)atttacfs	p.Y250fs	OPRM1_ENST00000229768.5_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000337049.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000518759.1_Frame_Shift_Ins_p.Y169fs|OPRM1_ENST00000435918.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000360422.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000434900.2_Frame_Shift_Ins_p.Y343fs|OPRM1_ENST00000524163.1_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000522555.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000522236.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000419506.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000330432.7_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000428397.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000520708.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000452687.2_Frame_Shift_Ins_p.Y250fs	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	250					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CAGTGCTCATCATTACCGTGTG	0.465													15	185	---	---	---	---					
TCP1	6950	broad.mit.edu	37	6	160200765	160200766	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr6:160200765_160200766delTG	ENST00000321394.7	-	11	1627_1628	c.1347_1348delCA	c.(1345-1350)ccatfs	p.PN449fs	TCP1_ENST00000420894.2_Intron|TCP1_ENST00000392168.2_Frame_Shift_Del_p.PN294fs|TCP1_ENST00000544255.1_Frame_Shift_Del_p.PN225fs	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	449					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTAGTGTATTGGGAATAACAA	0.416													7	245	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													24	419	---	---	---	---					
GLCCI1	113263	broad.mit.edu	37	7	8125865	8125866	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:8125865_8125866insA	ENST00000223145.5	+	8	1898_1899	c.1341_1342insA	c.(1339-1344)gaaaaafs	p.EK447fs		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	447										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)		CATGTCCTGACAAAAACAAGGT	0.411													9	1330	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	13975472	13975473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:13975472_13975473insG	ENST00000343495.5	-	7	1098_1099	c.360_361insC	c.(358-363)cccaccfs	p.T121fs	ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000476720.2_5'UTR			P50549	ETV1_HUMAN	ets variant 1	139					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTGGATGGTGTGGGGGGGTTGG	0.530			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								11	335	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													11	403	---	---	---	---					
TRGJP	6970	broad.mit.edu	37	7	38313226	38313227	+	RNA	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:38313226_38313227insT	ENST00000390338.2	-	0	21_22																											AAATACCTTGATTTTTTTGCCC	0.391													7	471	---	---	---	---					
LINC00957	255031	broad.mit.edu	37	7	44080548	44080549	+	RNA	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:44080548_44080549insC	ENST00000441052.1	+	0	1233_1234																											TGCGCCCCGCACCCCCCCGGAG	0.614													7	102	---	---	---	---					
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)ttcaggfs	p.R204fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGAATCCTGCAAAAAACGTGG	0.446													8	690	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					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)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								11	141	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													26	468	---	---	---	---					
AASS	10157	broad.mit.edu	37	7	121719765	121719766	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:121719765_121719766insG	ENST00000393376.1	-	20	2376_2377	c.2280_splice	c.e20-1	p.T761_splice	AASS_ENST00000417368.2_Splice_Site_p.T761_splice|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	761	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GAGGAGTTGTTTCTGGTTAGAA	0.356													10	52	---	---	---	---					
AKR1B10	57016	broad.mit.edu	37	7	134222395	134222396	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr7:134222395_134222396insA	ENST00000359579.4	+	7	1043_1044	c.723_724insA	c.(721-726)caaaaafs	p.QK241fs		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	241					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTGCAAAGCACAAAAAAACCGC	0.446													8	333	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													7	486	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													7	164	---	---	---	---					
CCNE2	9134	broad.mit.edu	37	8	95906294	95906295	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:95906294_95906295insG	ENST00000520509.1	-	3	319_320	c.67_68insC	c.(67-69)agafs	p.R23fs	CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.R23fs|CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.R23fs			O96020	CCNE2_HUMAN	cyclin E2	23					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTGGGCTTCTTGGGGGGATTCC	0.455													8	373	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:103572984_103572992delTGCAGCCCC	ENST00000285402.3	+	2	781_789	c.625_633delTGCAGCCCC	c.(625-633)del	p.CSP215del	ODF1_ENST00000518835.1_Splice_Site_p.3_splice	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													7	46	---	---	---	---					
EXT1	2131	broad.mit.edu	37	8	118832019	118832020	+	Frame_Shift_Ins	INS	-	-	G	rs17439693	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr8:118832019_118832020insG	ENST00000378204.2	-	6	2237_2238	c.1431_1432insC	c.(1429-1434)ccccaafs	p.Q478fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	478					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGAATTTGGAGGGGGGCTTTA	0.520			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				7	213	---	---	---	---					
DOCK8	81704	broad.mit.edu	37	9	418149	418150	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:418149_418150insG	ENST00000432829.2	+	30	3894_3895	c.3578_3579insG	c.(3577-3579)cgcfs	p.R1193fs	DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.R1161fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.R728fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.R1261fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1261					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATGTGGCTCTGGCCATAGCAG	0.441													62	234	---	---	---	---					
NFIB	4781	broad.mit.edu	37	9	14307384	14307385	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:14307384_14307385delCT	ENST00000380959.3	-	2	638_639	c.165_166delAG	c.(163-168)agcafs	p.RA55fs	NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	55					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCTTTGACTGCTCTTTCTTCAT	0.455			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								12	119	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													8	237	---	---	---	---					
RGP1	9827	broad.mit.edu	37	9	35750946	35750947	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:35750946_35750947insA	ENST00000378078.4	+	5	588_589	c.447_448insA	c.(445-450)atctttfs	p.F150fs	RGP1_ENST00000456972.2_Frame_Shift_Ins_p.F190fs	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	150										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCCCCTATCACTTTACTCAG	0.550													19	106	---	---	---	---					
GNE	10020	broad.mit.edu	37	9	36219966	36219970	+	Frame_Shift_Del	DEL	AAGGA	AAGGA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:36219966_36219970delAAGGA	ENST00000396594.3	-	10	1885_1889	c.1774_1778delTCCTT	c.(1774-1779)cfs	p.SF592fs	GNE_ENST00000377902.5_Frame_Shift_Del_p.SF561fs|GNE_ENST00000539815.1_Frame_Shift_Del_p.SF561fs|GNE_ENST00000447283.2_Frame_Shift_Del_p.SF487fs|GNE_ENST00000543356.2_Frame_Shift_Del_p.SF556fs|GNE_ENST00000539208.1_Frame_Shift_Del_p.SF451fs	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	561	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TGCAGCACAGAAGGAGCTTCCGTGG	0.502													14	109	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)ccgtgafs	p.*130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525													11	672	---	---	---	---					
TRPM6	140803	broad.mit.edu	37	9	77377691	77377692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:77377691_77377692insC	ENST00000451710.3	-	26	4132_4133	c.3895_3896insG	c.(3895-3897)actfs	p.T1299fs	TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1299					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGAAGTGCCCCCCTCTGC	0.480													7	354	---	---	---	---					
NTRK2	4915	broad.mit.edu	37	9	87339241	87339241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:87339241delG	ENST00000304053.6	+	8	1306	c.823delG	c.(823-825)atfs	p.D275fs	NTRK2_ENST00000277120.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.D119fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.D275fs	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	275	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGTAGGAGAAGATCAAGATTC	0.438										TSP Lung(25;0.17)			26	972	---	---	---	---					
ZCCHC6	79670	broad.mit.edu	37	9	88938010	88938010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:88938010delC	ENST00000277141.6	-	14	2946	c.522delG	c.(520-522)ggfs	p.G174fs	ZCCHC6_ENST00000375963.3_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.G762fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.G885fs			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	885					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CATCCCCTGACCCAGTGTAGG	0.458													9	948	---	---	---	---					
ZNF189	7743	broad.mit.edu	37	9	104170501	104170502	+	In_Frame_Ins	INS	-	-	GGA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:104170501_104170502insGGA	ENST00000374861.3	+	3	693_694	c.409_410insGGA	c.(409-411)aga>GGAaga	p.136_137insG	ZNF189_ENST00000339664.2_In_Frame_Ins_p.150_151insG|ZNF189_ENST00000259395.4_In_Frame_Ins_p.108_109insG	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	150					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCATAAATGTGAAGAATGTGGA	0.401													32	218	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													9	254	---	---	---	---					
ZNF462	58499	broad.mit.edu	37	9	109691601	109691602	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:109691601_109691602insG	ENST00000277225.5	+	3	5697_5698	c.5408_5409insG	c.(5407-5409)tggfs	p.W1803fs	ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1803					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCAGCAAGTTGGGGGGCTACT	0.550													7	175	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117186710	117186711	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:117186710_117186711insGT	ENST00000362057.3	-	6	1487_1488	c.1319_1320insAC	c.(1318-1320)gacfs	p.D440fs	DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.D57fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.D89fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	440			A -> T (in dbSNP:rs4978584).		inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCCATGGTGGCGTGTTCCTG	0.644													8	116	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													11	350	---	---	---	---					
CERCAM	51148	broad.mit.edu	37	9	131185522	131185523	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:131185522_131185523insG	ENST00000372842.1	+	4	3316_3317	c.172_173insG	c.(172-174)gggfs	p.G58fs	CERCAM_ENST00000372838.4_Frame_Shift_Ins_p.G136fs			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	136					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGCCAGGAACTGGGGGGCCGAC	0.545													9	901	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134019804	134019805	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:134019804_134019805insC	ENST00000359428.5	+	12	1576_1577	c.1432_1433insC	c.(1432-1434)cccfs	p.P478fs	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P478fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P478fs|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	478					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TGCTGGTGGAGCCCCCACTGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								7	619	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								12	261	---	---	---	---					
GATA3	2625	broad.mit.edu	37	10	8100451	8100452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:8100451_8100452insG	ENST00000379328.3	+	3	993_994	c.425_426insG	c.(424-426)tggfs	p.W142fs	GATA3_ENST00000346208.3_Frame_Shift_Ins_p.W142fs|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	142	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.G144fs*51(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCTCCTTGTCGGGGGGCCACG	0.728			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						7	123	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30317904	30317905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:30317904_30317905insG	ENST00000375377.1	-	3	1273_1274	c.1172_1173insC	c.(1171-1173)cggfs	p.R391fs		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	391	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCCCAGTTCCAGGGGGGCCTGA	0.609													7	193	---	---	---	---					
MTPAP	55149	broad.mit.edu	37	10	30653898	30653902	+	Frame_Shift_Del	DEL	TCTCC	TCTCC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:30653898_30653902delTCTCC	ENST00000358107.4	-	2	279_283	c.280_284delGGAGA	c.(280-285)tfs	p.GD94fs	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCATCTTCATCTCCTCTTTGTCCT	0.639													8	17	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													9	324	---	---	---	---					
NRP1	8829	broad.mit.edu	37	10	33502391	33502391	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:33502391delT	ENST00000265371.4	-	10	2062	c.1537delA	c.(1537-1539)ggfs	p.R513fs	NRP1_ENST00000374822.4_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374823.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374816.3_Frame_Shift_Del_p.R513fs|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374821.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374867.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000395995.1_Frame_Shift_Del_p.R513fs|NRP1_ENST00000466932.1_5'UTR			O14786	NRP1_HUMAN	neuropilin 1	513	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGAACTTCCTCATGAACACC	0.537													12	1019	---	---	---	---					
PARD3	56288	broad.mit.edu	37	10	34400165	34400166	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:34400165_34400166insG	ENST00000374789.3	-	25	4327_4328	c.4002_4003insC	c.(4000-4005)ccccccfs	p.PP1334fs	PARD3_ENST00000374794.3_Frame_Shift_Ins_p.PP1222fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.PP1244fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.PP1297fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.PP1274fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.PP1318fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.PP1288fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.PP1331fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1334					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGAGAAGGGGAGGGGGGCACAT	0.579													10	1447	---	---	---	---					
NCOA4	8031	broad.mit.edu	37	10	51586311	51586312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:51586311_51586312insC	ENST00000452682.1	+	10	2039_2040	c.1787_1788insC	c.(1786-1788)tccfs	p.S596fs	NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	580					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GAACATAACTTCCCCCCAGACC	0.416			T	RET	papillary thyroid								9	500	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													22	415	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													12	1107	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103906659	103906660	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr10:103906659_103906660insC	ENST00000278070.2	+	9	3949_3950	c.3910_3911insC	c.(3910-3912)cccfs	p.P1304fs	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P271fs|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CCGGAGCAGGACCCCCCCAAAA	0.569													7	115	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													7	661	---	---	---	---					
ILK	3611	broad.mit.edu	37	11	6629352	6629353	+	Frame_Shift_Ins	INS	-	-	G	rs141701406		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:6629352_6629353insG	ENST00000396751.2	+	2	622_623	c.166_167insG	c.(166-168)gggfs	p.G56fs	ILK_ENST00000420936.2_Frame_Shift_Ins_p.G56fs|ILK_ENST00000537806.1_Intron|ILK_ENST00000299421.4_Frame_Shift_Ins_p.G56fs|ILK_ENST00000528995.1_Frame_Shift_Ins_p.G56fs	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	56	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTTGATCATGCGGGGGGCACGG	0.564													9	275	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19955425	19955426	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:19955425_19955426insG	ENST00000396085.1	+	7	1996_1997	c.1635_1636insG	c.(1633-1638)aaggggfs	p.KG545fs	NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	568						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATCCCCAAAGGGGGGAAGCT	0.554													9	748	---	---	---	---					
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)gacfs	p.D101fs	PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs	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						CATCCAAGGTACCCCCCCATGA	0.520													35	444	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)gctfs	p.A1835fs	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													8	132	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46897491	46897492	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:46897491_46897492insC	ENST00000378623.1	-	26	3804_3805	c.3562_3563insG	c.(3562-3564)gaafs	p.E1188fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1188					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CTTGGCATTCTCCCCCCAGTCT	0.485													9	177	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													11	253	---	---	---	---					
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1035)accfs	p.T345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515													11	313	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													22	705	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)gggfs	p.G160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601).	cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455													7	215	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					11	124	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					10	219	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													8	451	---	---	---	---					
YIF1A	10897	broad.mit.edu	37	11	66055104	66055105	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:66055104_66055105insG	ENST00000376901.4	-	4	575_576	c.391_392insC	c.(391-393)gcafs	p.A131fs	YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		p.R131L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GAGGTCTTGCCGGGGGGGCAGA	0.624													9	138	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													13	390	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321760	66321760	+	RNA	DEL	C	C	-	rs147846428		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:66321760delC	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						acaaaaaataccaaaaaaaaa	0.498													8	7	---	---	---	---					
KLHL35	283212	broad.mit.edu	37	11	75134761	75134762	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:75134761_75134762insC	ENST00000539798.1	-	5	1536_1537	c.1537_1538insG	c.(1537-1539)ggcfs	p.G513fs	KLHL35_ENST00000376292.4_Frame_Shift_Ins_p.G293fs	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	293										lung(2)|stomach(1)	3						GACAGCTGCCTCCCCCCACACA	0.564													8	479	---	---	---	---					
HEPHL1	341208	broad.mit.edu	37	11	93839155	93839158	+	Splice_Site	DEL	AGCC	AGCC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:93839155_93839158delAGCC	ENST00000315765.9	+	17	2913_2915	c.2905_splice	c.e17-1	p.969_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	969	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CACCTTTTAAAGCCATTAATGGAA	0.333													20	81	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													10	852	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													7	597	---	---	---	---					
FOXM1	2305	broad.mit.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:2968087_2968088insG	ENST00000342628.2	-	10	2235_2236	c.2122_2123insC	c.(2122-2124)tgafs	p.*708fs	FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGCA	0.579													7	126	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													9	425	---	---	---	---					
KRT78	196374	broad.mit.edu	37	12	53233701	53233702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:53233701_53233702insC	ENST00000359499.4	-	7	795_796	c.784_785insG	c.(784-786)ggcfs	p.G262fs	KRT78_ENST00000304620.4_Frame_Shift_Ins_p.G372fs			Q8N1N4	K2C78_HUMAN	keratin 78	372	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACCTTGGCCTGAGCGTCCTTG	0.634													20	189	---	---	---	---					
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)ccacttfs	p.L37fs	AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	37					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCCCGGAAGTCGGGGGGCGGGC	0.653													11	375	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													12	394	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													9	1120	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:55945453_55945454insG	ENST00000394256.2	+	1	471_472	c.443_444insG	c.(442-444)tggfs	p.W148fs	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTCCTGGTTGGGGGGATTCC	0.455													9	544	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56558259_56558260insG	ENST00000550164.1	-	28	3502_3503	c.3488_3489insC	c.(3487-3489)cccfs	p.P1163fs	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|RP11-977G19.5_ENST00000553176.1_RNA			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCAGGTTAGGTGGGGGGAGAGT	0.614													8	348	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													18	297	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								7	220	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			19	563	---	---	---	---					
ANKS1B	56899	broad.mit.edu	37	12	99640442	99640444	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:99640442_99640444delTTG	ENST00000547776.2	-	13	1954_1956	c.1955_1957delCAA	c.(1954-1959)cta>c	p.PI652del	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_In_Frame_Del_p.PI232del|ANKS1B_ENST00000329257.7_In_Frame_Del_p.PI652del	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	652						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTATTTTCTATTGGAGACTGCTT	0.360													54	128	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													19	758	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104049316	104049317	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:104049316_104049317insAG	ENST00000388887.2	+	15	1895_1896	c.1691_1692insAG	c.(1690-1692)aaafs	p.K564fs	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	564	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAAGCATTGAATAACATGAAGG	0.455													7	329	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													7	875	---	---	---	---					
MVK	4598	broad.mit.edu	37	12	110029061	110029062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:110029061_110029062insC	ENST00000228510.3	+	9	860_861	c.784_785insC	c.(784-786)cccfs	p.P262fs	MVK_ENST00000541384.1_Frame_Shift_Ins_p.P68fs|MVK_ENST00000539696.1_5'UTR|MVK_ENST00000392727.3_Frame_Shift_Ins_p.P210fs|MVK_ENST00000539575.1_Frame_Shift_Ins_p.P210fs	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	262					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AGAGATCGTGGCCCCCCTCCTG	0.634													8	423	---	---	---	---					
OAS3	4940	broad.mit.edu	37	12	113405382	113405383	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:113405382_113405383delAG	ENST00000228928.7	+	13	3028_3029	c.2849_2850delAG	c.(2848-2850)afs	p.K950fs	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	950	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CGGCTGGTGAAGCACTGGTACC	0.584													23	61	---	---	---	---					
RASAL1	8437	broad.mit.edu	37	12	113565942	113565943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:113565942_113565943insC	ENST00000546530.1	-	4	448_449	c.163_164insG	c.(163-165)ggafs	p.G55fs	RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	55	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGTGTACTCCTCCCCCCAGAAG	0.614													7	694	---	---	---	---					
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs141115887	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr12:133277869_133277870insG	ENST00000545677.1	+	3	250_251	c.47_48insG	c.(46-48)gggfs	p.G16fs	PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000543589.1_Intron			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													16	596	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													18	229	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45149854	45149855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:45149854_45149855insG	ENST00000458659.2	-	1	846_847	c.356_357insC	c.(355-357)gcafs	p.A119fs	TSC22D1_ENST00000501704.2_Frame_Shift_Ins_p.A119fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	119					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CGGAGATCTGAGCAGGAGTAAC	0.490													7	104	---	---	---	---					
ITM2B	9445	broad.mit.edu	37	13	48835348	48835348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:48835348delA	ENST00000378565.5	+	6	992	c.789delA	c.(787-789)ttfs	p.L263fs	ITM2B_ENST00000378549.5_Frame_Shift_Del_p.L157fs	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	263					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TGGAAACTTTAATTTGTTCTT	0.333													11	94	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77672710	77672711	+	Frame_Shift_Ins	INS	-	-	CAAT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:77672710_77672711insCAAT	ENST00000407578.2	-	56	8844_8845	c.8578_8579insATTG	c.(8578-8580)aaafs	p.K2860fs	MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.K345fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.K2822fs|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.K2822fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCAAGCTTTGTCTTAACAGGA	0.470													126	409	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													7	362	---	---	---	---					
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:20248930_20248931insG	ENST00000315957.4	+	1	530_531	c.449_450insG	c.(448-450)aggfs	p.R150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTCA	0.505													11	873	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20295776	20295777	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:20295776_20295777insC	ENST00000568211.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs	OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.P57fs			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGGCTCACAGCCCCCCTCTAT	0.475													9	673	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													11	201	---	---	---	---					
RNASE6	6039	broad.mit.edu	37	14	21250266	21250267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:21250266_21250267insC	ENST00000304677.2	+	2	701_702	c.408_409insC	c.(406-411)gaccccfs	p.DP136fs		NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	136					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGAAGAGCGATCCCCCCTACAA	0.465													7	664	---	---	---	---					
TPPP2	122664	broad.mit.edu	37	14	21499213	21499214	+	In_Frame_Ins	INS	-	-	AAT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:21499213_21499214insAAT	ENST00000321760.6	+	3	364_365	c.216_217insAAT	c.(214-219)gacagt>gaAATcagt	p.72_72D>EI	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_In_Frame_Ins_p.72_72D>EI|TPPP2_ENST00000530140.2_In_Frame_Ins_p.72_72D>EI	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	72						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGTTCAAAGAGGCAGTGAAGGA	0.500													10	471	---	---	---	---					
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)gtgfs	p.V255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.490													7	935	---	---	---	---					
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)gggfs	p.G119fs	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.490													8	422	---	---	---	---					
TMX1	81542	broad.mit.edu	37	14	51716243	51716244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:51716243_51716244insT	ENST00000457354.2	+	6	672_673	c.547_548insT	c.(547-549)tttfs	p.F183fs		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	183					anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						ATCATATACTGTTTTTGCTTTA	0.307													7	790	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													20	474	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													8	138	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89878533	89878534	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:89878533_89878534insG	ENST00000345097.4	-	2	403_404	c.287_288insC	c.(286-288)ctcfs	p.L96fs	FOXN3_ENST00000261302.5_Frame_Shift_Ins_p.L96fs|FOXN3_ENST00000557258.1_Frame_Shift_Ins_p.L96fs|FOXN3_ENST00000555353.1_Frame_Shift_Ins_p.L96fs	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	96					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGTC	0.589													9	162	---	---	---	---					
CHORDC2P	317775	broad.mit.edu	37	14	90203668	90203668	+	RNA	DEL	C	C	-	rs67505159		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:90203668delC	ENST00000555070.1	-	0	170																											CTCTTTCTTTCtttttttttt	0.368													4	2	---	---	---	---					
ATXN3	4287	broad.mit.edu	37	14	92563097	92563098	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:92563097_92563098delGC	ENST00000545170.1	-	2	177_178	c.109_110delGC	c.(109-111)afs	p.A37fs	ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000340660.6_Intron	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	37	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CAGCTGATGTGCAATTGAGGAT	0.396													29	243	---	---	---	---					
UNC79	57578	broad.mit.edu	37	14	94046588	94046589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:94046588_94046589insG	ENST00000553484.1	+	19	2681_2682	c.2527_2528insG	c.(2527-2529)gggfs	p.G843fs	UNC79_ENST00000256339.4_Frame_Shift_Ins_p.G666fs|UNC79_ENST00000555664.1_Frame_Shift_Ins_p.G843fs|UNC79_ENST00000393151.2_Frame_Shift_Ins_p.G843fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	843						integral to membrane		p.I654_H670del(1)|p.G668fs*34(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCAAGCCCCCTGGGGGGGATCC	0.450													7	263	---	---	---	---					
CLMN	79789	broad.mit.edu	37	14	95669613	95669614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr14:95669613_95669614insG	ENST00000298912.4	-	9	2185_2186	c.2072_2073insC	c.(2071-2073)cagfs	p.Q691fs		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	691						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CACAGCTGCTTGGGGGGCTGGA	0.559													7	358	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													11	346	---	---	---	---					
MAGEL2	54551	broad.mit.edu	37	15	23889765	23889766	+	Frame_Shift_Ins	INS	-	-	CTCA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:23889765_23889766insCTCA	ENST00000532292.1	-	1	1409_1410	c.1315_1316insTGAG	c.(1315-1317)gcgfs	p.A439fs		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCCGAGCGCTGGACAGGCACC	0.500													19	34	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9457-9462)ctccccfs	p.LP3153fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564													9	279	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	145	---	---	---	---					
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs11542063	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:45353365_45353366insC	ENST00000267814.9	+	4	546_547	c.366_367insC	c.(364-369)acccccfs	p.TP122fs	SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	122					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TCTGTGCCACGCCCCCCGATGA	0.530													10	274	---	---	---	---					
MYO5A	4644	broad.mit.edu	37	15	52643648	52643649	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:52643648_52643649insT	ENST00000399231.3	-	28	3894_3895	c.3651_3652insA	c.(3649-3654)aatgaafs	p.NE1217fs	MYO5A_ENST00000399233.2_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000553916.1_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000356338.6_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000358212.6_Frame_Shift_Ins_p.NE1217fs	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1217					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCATTCTTCAGTTTTTTGTTTT	0.470													7	1774	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													7	251	---	---	---	---					
KIF7	374654	broad.mit.edu	37	15	90188350	90188351	+	Frame_Shift_Ins	INS	-	-	G	rs147779399	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:90188350_90188351insG	ENST00000394412.3	-	10	2160_2161	c.2084_2085insC	c.(2083-2085)cgcfs	p.R695fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	695					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGCTGTGGCAGGGGGGACCTG	0.639													10	322	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													8	359	---	---	---	---					
LINS	55180	broad.mit.edu	37	15	101109855	101109856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr15:101109855_101109856insG	ENST00000314742.8	-	7	2083_2084	c.1861_1862insC	c.(1861-1863)ggcfs	p.G621fs		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	621								p.R621fs*13(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTGAGAGGCCCGGGGGGAAGAC	0.525													19	1515	---	---	---	---					
MGRN1	23295	broad.mit.edu	37	16	4700413	4700414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:4700413_4700414insC	ENST00000399577.5	+	2	229_230	c.136_137insC	c.(136-138)cccfs	p.P46fs	MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P46fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	46					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAATTCGACACCCCCCACCCT	0.465													7	655	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													21	2004	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:20966297_20966298insG	ENST00000261383.3	-	55	10907_10908	c.10908_10909insC	c.(10906-10911)ccaaggfs	p.R3637fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3637	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGCCCTTTGGGGGGCTCAT	0.510													13	547	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													10	68	---	---	---	---					
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:22926721_22926722insA	ENST00000261374.3	+	2	1376_1377	c.942_943insA	c.(940-945)ttaaaafs	p.LK314fs		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	314						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAGA	0.485													7	539	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604													10	657	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													10	217	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													25	790	---	---	---	---					
HERPUD1	9709	broad.mit.edu	37	16	56977180	56977181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:56977180_56977181insC	ENST00000439977.2	+	8	1351_1352	c.1154_1155insC	c.(1153-1155)gccfs	p.A385fs	HERPUD1_ENST00000344114.4_Frame_Shift_Ins_p.A226fs|HERPUD1_ENST00000379792.2_Frame_Shift_Ins_p.A360fs|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Frame_Shift_Ins_p.A384fs	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	385						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTCCAGAAGGCCCCCCAGCCA	0.530			T	ERG	prostate								11	813	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													14	265	---	---	---	---					
PLA2G15	23659	broad.mit.edu	37	16	68289854	68289855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:68289854_68289855insG	ENST00000219345.5	+	5	771_772	c.688_689insG	c.(688-690)gggfs	p.G230fs	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.G136fs|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.R188fs	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGTG	0.629													12	206	---	---	---	---					
HP	3240	broad.mit.edu	37	16	72093094	72093095	+	Frame_Shift_Ins	INS	-	-	CTGAGCA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:72093094_72093095insCTGAGCA	ENST00000569639.1	+	4	302_303	c.272_273insCTGAGCA	c.(271-273)ttgfs	p.L91fs	HP_ENST00000562526.1_Intron|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Intron|HP_ENST00000355906.5_Intron|HP_ENST00000570083.1_Intron|HP_ENST00000565574.1_Intron			P00738	HPT_HUMAN	haptoglobin	92	Sushi 2.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCAGGTGGGTGCTGAGCACTTA	0.520													9	246	---	---	---	---					
RFWD3	55159	broad.mit.edu	37	16	74660329	74660329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr16:74660329delA	ENST00000361070.4	-	12	2190	c.2093delT	c.(2092-2094)cafs	p.L699fs	RFWD3_ENST00000571750.1_Frame_Shift_Del_p.L699fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	699					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTTGGTCAATAGTTTGCAAGT	0.468													30	677	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					11	523	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													8	173	---	---	---	---					
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(982-987)ggccccfs	p.GP328fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	328					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574													10	179	---	---	---	---					
MYH4	4622	broad.mit.edu	37	17	10369888	10369889	+	Frame_Shift_Ins	INS	-	-	C	rs143441825	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:10369888_10369889insC	ENST00000255381.2	-	3	284_285	c.174_175insG	c.(172-177)ggaggtfs	p.G59fs	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCCC	0.460													8	529	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													39	816	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													7	670	---	---	---	---					
PCGF2	7703	broad.mit.edu	37	17	36896586	36896587	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:36896586_36896587insC	ENST00000580830.1	-	4	770_771	c.69_70insG	c.(67-72)ggacttfs	p.L24fs	PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs			P35227	PCGF2_HUMAN	polycomb group ring finger 2	24					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					TCGATGAAGTACCCCCCGCAGA	0.629													7	364	---	---	---	---					
TTC25	83538	broad.mit.edu	37	17	40104559	40104560	+	RNA	INS	-	-	A	rs61095073		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:40104559_40104560insA	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				accctcactccaaaaaaaaaaa	0.416													9	25	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													11	229	---	---	---	---					
STAT3	6774	broad.mit.edu	37	17	40468878	40468879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:40468878_40468879insG	ENST00000264657.5	-	23	2497_2498	c.2185_2186insC	c.(2185-2187)cacfs	p.H729fs	STAT3_ENST00000588969.1_Frame_Shift_Ins_p.H729fs|STAT3_ENST00000389272.3_Frame_Shift_Ins_p.H631fs|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.H728fs	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	729					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATCTAAAGTGCGGGGGGACATC	0.510									Hyperimmunoglobulin E Recurrent Infection Syndrome				8	813	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44248730	44248731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:44248730_44248731insC	ENST00000262419.6	-	2	1249_1250	c.779_780insG	c.(778-780)ggtfs	p.G260fs	KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	260						MLL1 complex	protein binding										CCAATTTGACACCCCCCAAGTT	0.470													7	244	---	---	---	---					
DLX4	1748	broad.mit.edu	37	17	48051124	48051125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:48051124_48051125insG	ENST00000240306.3	+	3	835_836	c.540_541insG	c.(538-543)tcggggfs	p.SG180fs	DLX4_ENST00000411890.2_Frame_Shift_Ins_p.SG108fs	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	180					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						AGCAGAATTCTGGGGGGCAGGA	0.550													7	285	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													20	975	---	---	---	---					
OR4D2	124538	broad.mit.edu	37	17	56247751	56247752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:56247751_56247752insA	ENST00000545221.1	+	1	735_736	c.735_736insA	c.(733-738)attggtfs	p.G246fs		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCCACATCATCGTGGTTTCCAT	0.530													23	577	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)gccfs	p.A659fs	RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599													9	206	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													10	602	---	---	---	---					
ICT1	3396	broad.mit.edu	37	17	73015832	73015833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:73015832_73015833insG	ENST00000301585.5	+	3	274_275	c.261_262insG	c.(259-264)ccggggfs	p.PG87fs		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	87					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GTAGTGGTCCTGGGGGGCAGAA	0.441													8	976	---	---	---	---					
SEC14L1	6397	broad.mit.edu	37	17	75205481	75205482	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr17:75205481_75205482delCT	ENST00000413679.2	+	14	1837_1838	c.1534_1535delCT	c.(1534-1536)gfs	p.L512fs	SEC14L1_ENST00000436233.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000591437.1_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000430767.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000443798.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000392476.2_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000431431.2_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000585618.1_Frame_Shift_Del_p.L512fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	512					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCAGAGGAGCTGGAGAACGAA	0.550													10	76	---	---	---	---					
IMPA2	3613	broad.mit.edu	37	18	12030413	12030414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:12030413_12030414insA	ENST00000269159.3	+	8	1065_1066	c.823_824insA	c.(823-825)ggcfs	p.G275fs	IMPA2_ENST00000588927.1_Frame_Shift_Ins_p.G86fs|IMPA2_ENST00000589238.1_Frame_Shift_Ins_p.G86fs	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	275					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GCTCATAGCTCAGGCCTTACAG	0.619													9	278	---	---	---	---					
DSG4	147409	broad.mit.edu	37	18	28992968	28992969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:28992968_28992969insC	ENST00000359747.4	+	15	2619_2620	c.2590_2591insC	c.(2590-2592)gatfs	p.D864fs	DSG4_ENST00000308128.4_Frame_Shift_Ins_p.D845fs|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	845					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTCTTGCTGAGATCTGCTTA	0.421													18	242	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	419	---	---	---	---					
ZNF407	55628	broad.mit.edu	37	18	72343478	72343479	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr18:72343478_72343479insC	ENST00000299687.5	+	1	503_504	c.503_504insC	c.(502-504)tccfs	p.S168fs	ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.S168fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAATCTCCTTTCCCCCCGAAAG	0.396													8	380	---	---	---	---					
LRG1	116844	broad.mit.edu	37	19	4538452	4538453	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:4538452_4538453insG	ENST00000306390.6	-	2	1003_1004	c.543_544insC	c.(541-546)ccggctfs	p.A182fs	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	182						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCGGGGGGCAGTT	0.619													9	259	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													12	319	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)gacfs	p.D215fs	SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653													21	510	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|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						GGAAGGGGAGAGGGGGGGATAT	0.530													12	340	---	---	---	---					
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599													8	277	---	---	---	---					
CD97	976	broad.mit.edu	37	19	14516662	14516663	+	Frame_Shift_Ins	INS	-	-	ACAGG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:14516662_14516663insACAGG	ENST00000242786.5	+	14	1812_1813	c.1732_1733insACAGG	c.(1732-1734)gcgfs	p.A578fs	CD97_ENST00000357355.3_Frame_Shift_Ins_p.A529fs|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Frame_Shift_Ins_p.A485fs	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	578					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCAGGGCTCGCGCACCACC	0.639													20	162	---	---	---	---					
OR7C1	26664	broad.mit.edu	37	19	14910413	14910414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:14910413_14910414insA	ENST00000248073.2	-	1	609_610	c.535_536insT	c.(535-537)tgafs	p.*179fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGTAGATCACAAAAAAAGTGT	0.475													7	489	---	---	---	---					
HSH2D	84941	broad.mit.edu	37	19	16268114	16268115	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:16268114_16268115insC	ENST00000593154.2	+	8	1100_1101	c.569_570insC	c.(568-570)tccfs	p.S190fs	HSH2D_ENST00000253680.6_Frame_Shift_Ins_p.S190fs|HSH2D_ENST00000397372.4_Frame_Shift_Ins_p.S101fs|HSH2D_ENST00000588246.1_Frame_Shift_Ins_p.S190fs	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	190						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACTTCCTCCTGCCCCCCAAAAT	0.554													7	150	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:16860826_16860827insC	ENST00000524140.2	+	6	1791_1792	c.1373_1374insC	c.(1372-1374)tccfs	p.S458fs	NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629													8	491	---	---	---	---					
OCEL1	79629	broad.mit.edu	37	19	17337839	17337840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:17337839_17337840insC	ENST00000215061.4	+	3	327_328	c.283_284insC	c.(283-285)cccfs	p.P95fs	OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.P95fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.P39fs	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	95	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CAAAACCAGCGCCCCCCGCCCT	0.639													7	304	---	---	---	---					
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(484-489)gtccccfs	p.VP162fs	MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	162						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653													10	360	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													27	655	---	---	---	---					
NUDT19	390916	broad.mit.edu	37	19	33200241	33200242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:33200241_33200242insA	ENST00000397061.3	+	2	865_866	c.865_866insA	c.(865-867)aagfs	p.K289fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	289						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGAAGGACTGGAAAGGTGGCTG	0.455													16	423	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899415	38899416	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:38899415_38899416insG	ENST00000252530.5	+	8	962_963	c.943_944insG	c.(943-945)gggfs	p.G315fs	FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs|FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTTCCAGACCGGGGGGGCCGC	0.564													10	192	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)ccaggtfs	p.G318fs	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505													15	1016	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													10	322	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:45805663_45805664insC	ENST00000300843.4	+	18	2331_2332	c.2034_2035insC	c.(2032-2037)ccccccfs	p.PP678fs	MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639													7	205	---	---	---	---					
TEAD2	8463	broad.mit.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:49850472_49850473insG	ENST00000377214.4	-	8	1254_1255	c.892_893insC	c.(892-894)tgcfs	p.C298fs	TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs			Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564													67	765	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													10	217	---	---	---	---					
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)ttcfs	p.F459fs	ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.450													8	1000	---	---	---	---					
NLRP5	126206	broad.mit.edu	37	19	56552432	56552433	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:56552432_56552433insC	ENST00000390649.3	+	11	2931_2932	c.2931_2932insC	c.(2929-2934)ctcccafs	p.LP977fs		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	977						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCATGAGGCTTCCCCACTGTAG	0.535													8	2310	---	---	---	---					
ZNF419	79744	broad.mit.edu	37	19	58004916	58004917	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr19:58004916_58004917delAT	ENST00000424930.2	+	5	1223_1224	c.994_995delAT	c.(994-996)gfs	p.M332fs	ZNF419_ENST00000442920.2_Frame_Shift_Del_p.M318fs|ZNF419_ENST00000426954.2_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000347466.6_Frame_Shift_Del_p.M299fs|ZNF419_ENST00000354197.4_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000221735.7_Frame_Shift_Del_p.M331fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.M285fs|AC003005.4_ENST00000601674.1_Intron	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CTCCAGCCTCATGAAACATCAG	0.401													39	119	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													8	269	---	---	---	---					
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)ggtfs	p.G266fs	NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.510													10	749	---	---	---	---					
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)ggcctgfs	p.L424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TGCCTGCAGGGCCCCCCCATTC	0.624													8	169	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													7	161	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													9	233	---	---	---	---					
GGT7	2686	broad.mit.edu	37	20	33447847	33447848	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:33447847_33447848insG	ENST00000336431.5	-	6	788		c.e6-2			NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7						glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CATGGCAGCCTGGGGGGGCCGG	0.653													3	5	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													11	192	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37203484	37203485	+	Frame_Shift_Ins	INS	-	-	C	rs138886522	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:37203484_37203485insC	ENST00000262879.6	+	30	4643_4644	c.4359_4360insC	c.(4357-4362)agccccfs	p.SP1453fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.SP1453fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.SP1450fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.SP1232fs|RALGAPB_ENST00000490114.1_3'UTR			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1453					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTCCTACAGTCCCCCCCATGT	0.431													9	233	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(622-627)tgccccfs	p.CP208fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	208					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ATGGCGAGTGGCCCCCCCAGGC	0.540													13	306	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													14	142	---	---	---	---					
SLC9A8	23315	broad.mit.edu	37	20	48472092	48472092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr20:48472092delC	ENST00000417961.1	+	8	945	c.735delC	c.(733-735)aafs	p.N245fs	SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.N10fs|SLC9A8_ENST00000361573.2_Frame_Shift_Del_p.N229fs	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	229						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTATTCTCAACGATGCAGTCT	0.448													8	107	---	---	---	---					
IFNAR1	3454	broad.mit.edu	37	21	34725169	34725170	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:34725169_34725170insT	ENST00000270139.3	+	9	1401_1402	c.1249_1250insT	c.(1249-1251)aagfs	p.K417fs	IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Frame_Shift_Ins_p.K348fs	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	417	Fibronectin type-III 3.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AAAGCTGAATAAAAGCAGTGTT	0.322													17	70	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													8	1175	---	---	---	---					
KCNJ6	3763	broad.mit.edu	37	21	38997604	38997604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:38997604delC	ENST00000400482.3	-	4	1718	c.1129delG	c.(1129-1131)cafs	p.A377fs	KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.A377fs	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	377					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGCAGCTCTGCCCTGCTGGCT	0.517													15	156	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													14	597	---	---	---	---					
NDUFV3	4731	broad.mit.edu	37	21	44323714	44323715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr21:44323714_44323715insC	ENST00000354250.2	+	3	661_662	c.592_593insC	c.(592-594)cccfs	p.P198fs	NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	29					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TGAAAACAGAGCCCCCCGAGTT	0.520													9	332	---	---	---	---					
TUBA8	51807	broad.mit.edu	37	22	18609265	18609266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:18609265_18609266insC	ENST00000330423.3	+	4	593_594	c.520_521insC	c.(520-522)cccfs	p.P174fs	TUBA8_ENST00000316027.6_Frame_Shift_Ins_p.P108fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	174					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CATCTACCCAGCCCCCCAGGTC	0.545													11	660	---	---	---	---					
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)ccagtgfs	p.V252fs		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554													10	332	---	---	---	---					
MTMR3	8897	broad.mit.edu	37	22	30415990	30415991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:30415990_30415991insC	ENST00000333027.3	+	17	2670_2671	c.2342_2343insC	c.(2341-2343)gccfs	p.A781fs	MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.A781fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.A645fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.A781fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	781					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCTCCAGGTCCCCCCCAGGG	0.554													8	245	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4518)cggfs	p.R1506fs	TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1506					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGAAGTGTGCTGGGGGGTACAG	0.480													7	692	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													20	497	---	---	---	---					
PARVB	29780	broad.mit.edu	37	22	44547421	44547422	+	In_Frame_Ins	INS	-	-	TTG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:44547421_44547422insTTG	ENST00000338758.6	+	10	896_897	c.833_834insTTG	c.(832-834)cga>cTTGga	p.278_278R>LG	PARVB_ENST00000404989.1_In_Frame_Ins_p.241_241R>LG|PARVB_ENST00000406477.3_In_Frame_Ins_p.311_311R>LG	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	278	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACGGAACTGGAGACCCAGG	0.510													12	450	---	---	---	---					
PKDREJ	10343	broad.mit.edu	37	22	46654994	46654994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chr22:46654994delT	ENST00000253255.5	-	1	4225	c.4226delA	c.(4225-4227)atfs	p.N1409fs		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1409					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTATTTAGATTAAAGAACAT	0.338													10	206	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													9	216	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													22	2220	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													11	952	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)caafs	p.Q63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	63					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.510													8	393	---	---	---	---					
GABRQ	55879	broad.mit.edu	37	X	151821590	151821591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81	g.chrX:151821590_151821591insC	ENST00000370306.2	+	9	1765_1766	c.1745_1746insC	c.(1744-1746)tccfs	p.S582fs		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	582						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGATAGTTGCCCCCCAAGCC	0.520													11	752	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													4	4	---	---	---	---					
AKR7L	246181	broad.mit.edu	37	1	19594921	19594921	+	RNA	DEL	G	G	-	rs138196141		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:19594921delG	ENST00000420396.2	-	0	637				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						aaaaaaaaaaGACCAGTGGGA	0.413													9	64	---	---	---	---					
ELOVL1	64834	broad.mit.edu	37	1	43830227	43830228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:43830227_43830228insC	ENST00000372458.3	-	6	583_584	c.466_467insG	c.(466-468)aaafs	p.K156fs	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Frame_Shift_Ins_p.K129fs	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	156					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCAATCTTTACCCCCCACCAC	0.550													7	314	---	---	---	---					
STXBP3	6814	broad.mit.edu	37	1	109325098	109325098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:109325098delC	ENST00000370008.3	+	10	914	c.864delC	c.(862-864)ctfs	p.L288fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	288					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAGATGACCTCTGGGTTAGAA	0.343													7	377	---	---	---	---					
ZNF687	57592	broad.mit.edu	37	1	151258868	151258869	+	Frame_Shift_Ins	INS	-	-	TGGG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:151258868_151258869insTGGG	ENST00000368879.2	+	2	199_200	c.101_102insTGGG	c.(100-102)agafs	p.R34fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGAAGAAAATGAGGGGCCTG	0.550													26	371	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152279150	152279151	+	Frame_Shift_Ins	INS	-	-	AGATCCTG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:152279150_152279151insAGATCCTG	ENST00000368799.1	-	3	8246_8247	c.8211_8212insCAGGATCT	c.(8209-8214)tctcctfs	p.P2738fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2738	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTAGAGGAAAGATCCTGAAT	0.594									Ichthyosis				7	131	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152283386	152283398	+	Frame_Shift_Del	DEL	AGCTGTCTGCAGA	AGCTGTCTGCAGA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:152283386_152283398delAGCTGTCTGCAGA	ENST00000368799.1	-	3	3999_4011	c.3964_3976delTCTGCAGACAGCT	c.(3964-3978)ccfs	p.SADSS1322fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1322	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A1323E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGA	0.526									Ichthyosis				7	274	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324471	152324472	+	In_Frame_Ins	INS	-	-	AGTGGTATCTCT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:152324471_152324472insAGTGGTATCTCT	ENST00000388718.5	-	3	5862_5863	c.5790_5791insAGAGATACCACT	c.(5788-5793)acaaca>acAGAGATACCACTaaca	p.1930_1931TT>TEIPLT	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1930							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCATGTTCAGTGGTATCTC	0.520													22	653	---	---	---	---					
S100A12	6283	broad.mit.edu	37	1	153346338	153346338	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:153346338delG	ENST00000368737.3	-	3	361	c.244delC	c.(244-246)tgfs	p.L82fs		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	82	EF-hand 2.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GCAGCCTTCAGCGCAATGGCT	0.448													8	464	---	---	---	---					
TPM3	7170	broad.mit.edu	37	1	154163682	154163682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:154163682delC	ENST00000368530.2	-	2	415	c.223delG	c.(223-225)cafs	p.A75fs	TPM3_ENST00000271850.7_Frame_Shift_Del_p.A75fs	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	74					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TTCTTCTCTGCCAGTTCCAGC	0.448			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								55	731	---	---	---	---					
ASTN1	460	broad.mit.edu	37	1	177133693	177133694	+	In_Frame_Ins	INS	-	-	GTA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:177133693_177133694insGTA	ENST00000367654.2	-	1	132_133	c.119_120insTAC	c.(118-120)aac>aTACac	p.40_40N>IH	ASTN1_ENST00000424564.2_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000367657.3_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_In_Frame_Ins_p.40_40N>IH			O14525	ASTN1_HUMAN	astrotactin 1	40					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCGACACCGTGATGCTTTTGAG	0.678													7	61	---	---	---	---					
LAD1	3898	broad.mit.edu	37	1	201352461	201352464	+	Frame_Shift_Del	DEL	TATC	TATC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:201352461_201352464delTATC	ENST00000391967.2	-	6	1530_1533	c.1229_1232delGATA	c.(1228-1233)acfs	p.RY410fs	LAD1_ENST00000367313.3_Frame_Shift_Del_p.RY424fs|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	410						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGCCGTGTGGTATCTCTCCAGCTT	0.608													10	405	---	---	---	---					
TATDN3	128387	broad.mit.edu	37	1	212988385	212988386	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:212988385_212988386insC	ENST00000366974.4	+	10	806_807	c.712_713insC	c.(712-714)agcfs	p.S238fs	TATDN3_ENST00000366973.4_Frame_Shift_Ins_p.S237fs|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000532324.1_Frame_Shift_Ins_p.S245fs|TATDN3_ENST00000526641.1_Frame_Shift_Ins_p.S217fs	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	238						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		CATTTCTATTTCAGCAGAATAT	0.431													24	213	---	---	---	---					
LYST	1130	broad.mit.edu	37	1	235969934	235969934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr1:235969934delG	ENST00000389794.3	-	6	2676	c.2502delC	c.(2500-2502)gcfs	p.A834fs	LYST_ENST00000536965.1_Frame_Shift_Del_p.A834fs|LYST_ENST00000389793.2_Frame_Shift_Del_p.A834fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	834					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGAACTGAGGCATCTTTCT	0.378													22	447	---	---	---	---					
EPAS1	2034	broad.mit.edu	37	2	46611714	46611714	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:46611714delA	ENST00000263734.3	+	16	3038	c.2528delA	c.(2527-2529)gcfs	p.D843fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	843	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCAGATATGACTGTGAGGTG	0.602													63	213	---	---	---	---					
COMMD1	150684	broad.mit.edu	37	2	62373417	62373418	+	RNA	INS	-	-	A	rs76799739		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:62373417_62373418insA	ENST00000425966.2	-	0	251				AC018462.2_ENST00000421323.1_RNA																							ctctacttattaaaaaaaaAAA	0.347													2	4	---	---	---	---					
LONRF2	164832	broad.mit.edu	37	2	100903470	100903472	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:100903470_100903472delTGT	ENST00000393437.3	-	11	2613_2615	c.1974_1976delACA	c.(1972-1977)cag>ca	p.QQ658del	LONRF2_ENST00000409647.1_In_Frame_Del_p.QQ415del	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	658	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGAAACAGACTGTTGATGCACAG	0.488													21	421	---	---	---	---					
GPR155	151556	broad.mit.edu	37	2	175333792	175333793	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:175333792_175333793delTT	ENST00000392552.2	-	5	1267_1268	c.1029_1030delAA	c.(1027-1032)atccfs	p.IT343fs	GPR155_ENST00000392551.2_Frame_Shift_Del_p.IT343fs|GPR155_ENST00000295500.4_Frame_Shift_Del_p.IT343fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	343					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATCCCTGAGGTTATCTGCAAAA	0.376													70	215	---	---	---	---					
THAP4	51078	broad.mit.edu	37	2	242573106	242573106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr2:242573106delT	ENST00000407315.1	-	2	897	c.466delA	c.(466-468)ggfs	p.R156fs		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	156							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGGCCGCCCTGGGTGTGGCT	0.642													12	47	---	---	---	---					
TCAIM	285343	broad.mit.edu	37	3	44434435	44434436	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:44434435_44434436insT	ENST00000342649.4	+	6	1088_1089	c.661_662insT	c.(661-663)actfs	p.T221fs	TCAIM_ENST00000417237.1_Frame_Shift_Ins_p.T221fs	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		TTTAAAAGATGAACTGTCTCAT	0.327													31	202	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52696164	52696164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:52696164delG	ENST00000356770.4	-	4	515	c.513delC	c.(511-513)ggfs	p.G171fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G171fs			Q86U86	PB1_HUMAN	polybromo 1	171					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGTCACTGTGCCCTGATTGT	0.488			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								159	800	---	---	---	---					
ALDH1L1	10840	broad.mit.edu	37	3	125825989	125825992	+	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr3:125825989_125825992delAGCA	ENST00000393434.2	-	21	2794_2797	c.2445_2448delTGCT	c.(2443-2448)ttfs	p.FA815fs	ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.FA714fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.FA815fs|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.FA825fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	815	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTACCCATCAGCAAACCGAGAGA	0.534													15	228	---	---	---	---					
NDNF	79625	broad.mit.edu	37	4	121957791	121957792	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:121957791_121957792insT	ENST00000379692.4	-	4	1860_1861	c.1334_1335insA	c.(1333-1335)ctcfs	p.L445fs		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	445	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAGGAAGAGAGGGAAATGACTG	0.446													16	390	---	---	---	---					
DCLK2	166614	broad.mit.edu	37	4	151177263	151177264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:151177263_151177264insA	ENST00000296550.7	+	16	2919_2920	c.2165_2166insA	c.(2164-2166)cccfs	p.P722fs	DCLK2_ENST00000302176.8_Frame_Shift_Ins_p.P739fs|DCLK2_ENST00000506325.1_Frame_Shift_Ins_p.P721fs	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	722	Pro-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TCTCCAGTTCCTCCCTCAGTGG	0.649													11	70	---	---	---	---					
DDX60	55601	broad.mit.edu	37	4	169201620	169201621	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr4:169201620_169201621insA	ENST00000393743.3	-	14	2134_2135	c.1843_1844insT	c.(1843-1845)tttfs	p.F615fs		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	615							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAGTGTAAATTTTCTTTCAAT	0.366													8	198	---	---	---	---					
ERAP1	51752	broad.mit.edu	37	5	96136598	96136598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr5:96136598delC	ENST00000296754.3	-	3	887	c.630delG	c.(628-630)gafs	p.E210fs	ERAP1_ENST00000443439.2_Frame_Shift_Del_p.E210fs	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	210					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GGTGCCTTGGCTCTCTTCTAA	0.438													18	320	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30863250	30863251	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:30863250_30863251insC	ENST00000324771.8	+	14	2131_2132	c.1583_1584insC	c.(1582-1584)gccfs	p.A528fs	DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376575.3_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.P232fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000446312.1_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	528	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGAGGCCCGGGCCCCCCCACAC	0.683													12	77	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32029262	32029263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:32029262_32029263insC	ENST00000375244.3	-	21	7604_7605	c.7403_7404insG	c.(7402-7404)gctfs	p.A2468fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.A2468fs			P22105	TENX_HUMAN	tenascin XB	2528					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGCTCCAGGCCCCCCACGGT	0.683													9	483	---	---	---	---					
RING1	6015	broad.mit.edu	37	6	33179568	33179568	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:33179568delT	ENST00000374656.4	+	6	1116	c.908delT	c.(907-909)atfs	p.I303fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	303	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCCTGCGCATTGCCCTCGAG	0.642													49	290	---	---	---	---					
FOXP4	116113	broad.mit.edu	37	6	41564917	41564921	+	Frame_Shift_Del	DEL	CCCCA	CCCCA	-	rs6911720		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:41564917_41564921delCCCCA	ENST00000373060.1	+	15	2120_2124	c.1662_1666delCCCCA	c.(1660-1668)agccfs	p.SPT554fs	FOXP4_ENST00000373057.3_Frame_Shift_Del_p.SPT552fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.SPT542fs|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.SPT541fs|FOXP4_ENST00000307972.4_Frame_Shift_Del_p.SPT554fs	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	554					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTCCAGGAGCCCCACCCTGGTGAA	0.546													10	178	---	---	---	---					
HIVEP2	3097	broad.mit.edu	37	6	143074371	143074371	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:143074371delG	ENST00000367603.2	-	10	7956	c.7214delC	c.(7213-7215)gtfs	p.A2405fs	HIVEP2_ENST00000367604.1_Frame_Shift_Del_p.A2405fs|HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.A2405fs|RP1-67K17.3_ENST00000437067.1_RNA	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGTGGAGTGAGCTAATGGAGT	0.468													8	598	---	---	---	---					
OPRM1	4988	broad.mit.edu	37	6	154412190	154412191	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:154412190_154412191insCT	ENST00000414028.2	+	3	797_798	c.747_748insCT	c.(745-750)atttacfs	p.Y250fs	OPRM1_ENST00000522236.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000522555.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000435918.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000419506.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000434900.2_Frame_Shift_Ins_p.Y343fs|OPRM1_ENST00000524163.1_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000428397.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000337049.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000452687.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000330432.7_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000360422.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000229768.5_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000520708.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000518759.1_Frame_Shift_Ins_p.Y169fs	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	250					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	CAGTGCTCATCATTACCGTGTG	0.465													15	185	---	---	---	---					
TCP1	6950	broad.mit.edu	37	6	160200765	160200766	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr6:160200765_160200766delTG	ENST00000321394.7	-	11	1627_1628	c.1347_1348delCA	c.(1345-1350)ccatfs	p.PN449fs	TCP1_ENST00000392168.2_Frame_Shift_Del_p.PN294fs|TCP1_ENST00000420894.2_Intron|TCP1_ENST00000544255.1_Frame_Shift_Del_p.PN225fs	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	449					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTAGTGTATTGGGAATAACAA	0.416													7	245	---	---	---	---					
GLCCI1	113263	broad.mit.edu	37	7	8125865	8125866	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:8125865_8125866insA	ENST00000223145.5	+	8	1898_1899	c.1341_1342insA	c.(1339-1344)gaaaaafs	p.EK447fs		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	447										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)		CATGTCCTGACAAAAACAAGGT	0.411													9	1330	---	---	---	---					
TRGJP	6970	broad.mit.edu	37	7	38313226	38313227	+	RNA	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:38313226_38313227insT	ENST00000390338.2	-	0	21_22																											AAATACCTTGATTTTTTTGCCC	0.391													7	471	---	---	---	---					
AASS	10157	broad.mit.edu	37	7	121719765	121719766	+	Splice_Site	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr7:121719765_121719766insG	ENST00000393376.1	-	20	2376_2377	c.2280_splice	c.e20-1	p.T761_splice	AASS_ENST00000417368.2_Splice_Site_p.T761_splice|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	761	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GAGGAGTTGTTTCTGGTTAGAA	0.356													10	52	---	---	---	---					
XKR6	286046	broad.mit.edu	37	8	11058233	11058234	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:11058233_11058234insG	ENST00000416569.2	-	1	641_642	c.615_616insC	c.(613-618)cctgatfs	p.D206fs	XKR6_ENST00000297303.4_Frame_Shift_Ins_p.D206fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	206						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GCCCCCATCATGGGGGGGCCCC	0.762													2	4	---	---	---	---					
CCNE2	9134	broad.mit.edu	37	8	95906294	95906295	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr8:95906294_95906295insG	ENST00000520509.1	-	3	319_320	c.67_68insC	c.(67-69)agafs	p.R23fs	CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.R23fs|CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.R23fs			O96020	CCNE2_HUMAN	cyclin E2	23					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTGGGCTTCTTGGGGGGATTCC	0.455													8	373	---	---	---	---					
DOCK8	81704	broad.mit.edu	37	9	418149	418150	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:418149_418150insG	ENST00000432829.2	+	30	3894_3895	c.3578_3579insG	c.(3577-3579)cgcfs	p.R1193fs	DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.R1261fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.R1161fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.R728fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1261					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATGTGGCTCTGGCCATAGCAG	0.441													62	234	---	---	---	---					
NFIB	4781	broad.mit.edu	37	9	14307384	14307385	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:14307384_14307385delCT	ENST00000380959.3	-	2	638_639	c.165_166delAG	c.(163-168)agcafs	p.RA55fs	NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	55					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCTTTGACTGCTCTTTCTTCAT	0.455			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								12	119	---	---	---	---					
RGP1	9827	broad.mit.edu	37	9	35750946	35750947	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:35750946_35750947insA	ENST00000378078.4	+	5	588_589	c.447_448insA	c.(445-450)atctttfs	p.F150fs	RGP1_ENST00000456972.2_Frame_Shift_Ins_p.F190fs	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	150										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCCCCTATCACTTTACTCAG	0.550													19	106	---	---	---	---					
GNE	10020	broad.mit.edu	37	9	36219966	36219970	+	Frame_Shift_Del	DEL	AAGGA	AAGGA	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:36219966_36219970delAAGGA	ENST00000396594.3	-	10	1885_1889	c.1774_1778delTCCTT	c.(1774-1779)cfs	p.SF592fs	GNE_ENST00000539208.1_Frame_Shift_Del_p.SF451fs|GNE_ENST00000447283.2_Frame_Shift_Del_p.SF487fs|GNE_ENST00000377902.5_Frame_Shift_Del_p.SF561fs|GNE_ENST00000543356.2_Frame_Shift_Del_p.SF556fs|GNE_ENST00000539815.1_Frame_Shift_Del_p.SF561fs	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	561	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TGCAGCACAGAAGGAGCTTCCGTGG	0.502													14	109	---	---	---	---					
NTRK2	4915	broad.mit.edu	37	9	87339241	87339241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:87339241delG	ENST00000304053.6	+	8	1306	c.823delG	c.(823-825)atfs	p.D275fs	NTRK2_ENST00000376213.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.D119fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.D275fs	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	275	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGTAGGAGAAGATCAAGATTC	0.438										TSP Lung(25;0.17)			26	972	---	---	---	---					
ZCCHC6	79670	broad.mit.edu	37	9	88938010	88938010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:88938010delC	ENST00000277141.6	-	14	2946	c.522delG	c.(520-522)ggfs	p.G174fs	ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375963.3_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.G762fs			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	885					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CATCCCCTGACCCAGTGTAGG	0.458													9	948	---	---	---	---					
ZNF189	7743	broad.mit.edu	37	9	104170501	104170502	+	In_Frame_Ins	INS	-	-	GGA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:104170501_104170502insGGA	ENST00000374861.3	+	3	693_694	c.409_410insGGA	c.(409-411)aga>GGAaga	p.136_137insG	ZNF189_ENST00000259395.4_In_Frame_Ins_p.108_109insG|ZNF189_ENST00000339664.2_In_Frame_Ins_p.150_151insG	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	150					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCATAAATGTGAAGAATGTGGA	0.401													32	218	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117186710	117186711	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr9:117186710_117186711insGT	ENST00000362057.3	-	6	1487_1488	c.1319_1320insAC	c.(1318-1320)gacfs	p.D440fs	DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.D89fs|DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.D57fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	440			A -> T (in dbSNP:rs4978584).		inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCCATGGTGGCGTGTTCCTG	0.644													8	116	---	---	---	---					
GATA3	2625	broad.mit.edu	37	10	8100451	8100452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:8100451_8100452insG	ENST00000379328.3	+	3	993_994	c.425_426insG	c.(424-426)tggfs	p.W142fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Frame_Shift_Ins_p.W142fs	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	142	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.G144fs*51(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCCTCCTTGTCGGGGGGCCACG	0.728			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						7	123	---	---	---	---					
MTPAP	55149	broad.mit.edu	37	10	30653898	30653902	+	Frame_Shift_Del	DEL	TCTCC	TCTCC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:30653898_30653902delTCTCC	ENST00000358107.4	-	2	279_283	c.280_284delGGAGA	c.(280-285)tfs	p.GD94fs	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCCATCTTCATCTCCTCTTTGTCCT	0.639													8	17	---	---	---	---					
NRP1	8829	broad.mit.edu	37	10	33502391	33502391	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr10:33502391delT	ENST00000265371.4	-	10	2062	c.1537delA	c.(1537-1539)ggfs	p.R513fs	NRP1_ENST00000374867.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374823.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000395995.1_Frame_Shift_Del_p.R513fs|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374816.3_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374821.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374822.4_Frame_Shift_Del_p.R513fs			O14786	NRP1_HUMAN	neuropilin 1	513	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGAACTTCCTCATGAACACC	0.537													12	1019	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19955425	19955426	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:19955425_19955426insG	ENST00000396085.1	+	7	1996_1997	c.1635_1636insG	c.(1633-1638)aaggggfs	p.KG545fs	NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	568						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATCCCCAAAGGGGGGAAGCT	0.554													9	748	---	---	---	---					
HEPHL1	341208	broad.mit.edu	37	11	93839155	93839158	+	Splice_Site	DEL	AGCC	AGCC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr11:93839155_93839158delAGCC	ENST00000315765.9	+	17	2913_2915	c.2905_splice	c.e17-1	p.969_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	969	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CACCTTTTAAAGCCATTAATGGAA	0.333													20	81	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													4	6	---	---	---	---					
KRT78	196374	broad.mit.edu	37	12	53233701	53233702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:53233701_53233702insC	ENST00000359499.4	-	7	795_796	c.784_785insG	c.(784-786)ggcfs	p.G262fs	KRT78_ENST00000304620.4_Frame_Shift_Ins_p.G372fs			Q8N1N4	K2C78_HUMAN	keratin 78	372	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACCTTGGCCTGAGCGTCCTTG	0.634													20	189	---	---	---	---					
ANKS1B	56899	broad.mit.edu	37	12	99640442	99640444	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:99640442_99640444delTTG	ENST00000547776.2	-	13	1954_1956	c.1955_1957delCAA	c.(1954-1959)cta>c	p.PI652del	ANKS1B_ENST00000547010.1_In_Frame_Del_p.PI232del|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_In_Frame_Del_p.PI652del	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	652						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTATTTTCTATTGGAGACTGCTT	0.360													54	128	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104049316	104049317	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:104049316_104049317insAG	ENST00000388887.2	+	15	1895_1896	c.1691_1692insAG	c.(1690-1692)aaafs	p.K564fs	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	564	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAAGCATTGAATAACATGAAGG	0.455													7	329	---	---	---	---					
MVK	4598	broad.mit.edu	37	12	110029061	110029062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:110029061_110029062insC	ENST00000228510.3	+	9	860_861	c.784_785insC	c.(784-786)cccfs	p.P262fs	MVK_ENST00000539575.1_Frame_Shift_Ins_p.P210fs|MVK_ENST00000541384.1_Frame_Shift_Ins_p.P68fs|MVK_ENST00000392727.3_Frame_Shift_Ins_p.P210fs|MVK_ENST00000539696.1_5'UTR	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	262					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AGAGATCGTGGCCCCCCTCCTG	0.634													8	423	---	---	---	---					
OAS3	4940	broad.mit.edu	37	12	113405382	113405383	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr12:113405382_113405383delAG	ENST00000228928.7	+	13	3028_3029	c.2849_2850delAG	c.(2848-2850)afs	p.K950fs	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	950	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CGGCTGGTGAAGCACTGGTACC	0.584													23	61	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45149854	45149855	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:45149854_45149855insG	ENST00000458659.2	-	1	846_847	c.356_357insC	c.(355-357)gcafs	p.A119fs	TSC22D1_ENST00000501704.2_Frame_Shift_Ins_p.A119fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	119					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CGGAGATCTGAGCAGGAGTAAC	0.490													7	104	---	---	---	---					
ITM2B	9445	broad.mit.edu	37	13	48835348	48835348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:48835348delA	ENST00000378565.5	+	6	992	c.789delA	c.(787-789)ttfs	p.L263fs	ITM2B_ENST00000378549.5_Frame_Shift_Del_p.L157fs	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	263					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TGGAAACTTTAATTTGTTCTT	0.333													11	94	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77672710	77672711	+	Frame_Shift_Ins	INS	-	-	CAAT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:77672710_77672711insCAAT	ENST00000407578.2	-	56	8844_8845	c.8578_8579insATTG	c.(8578-8580)aaafs	p.K2860fs	MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.K2822fs|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.K345fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.K2822fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCAAGCTTTGTCTTAACAGGA	0.470													126	409	---	---	---	---					
FAM155A	728215	broad.mit.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr13:108518337_108518338insC	ENST00000375915.2	-	1	745_746	c.607_608insG	c.(607-609)cggfs	p.R203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609													7	92	---	---	---	---					
TPPP2	122664	broad.mit.edu	37	14	21499213	21499214	+	In_Frame_Ins	INS	-	-	AAT			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:21499213_21499214insAAT	ENST00000321760.6	+	3	364_365	c.216_217insAAT	c.(214-219)gacagt>gaAATcagt	p.72_72D>EI	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_In_Frame_Ins_p.72_72D>EI|TPPP2_ENST00000460647.2_In_Frame_Ins_p.72_72D>EI	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	72						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGTTCAAAGAGGCAGTGAAGGA	0.500													10	471	---	---	---	---					
TMX1	81542	broad.mit.edu	37	14	51716243	51716244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:51716243_51716244insT	ENST00000457354.2	+	6	672_673	c.547_548insT	c.(547-549)tttfs	p.F183fs		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	183					anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						ATCATATACTGTTTTTGCTTTA	0.307													7	790	---	---	---	---					
ATXN3	4287	broad.mit.edu	37	14	92563097	92563098	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr14:92563097_92563098delGC	ENST00000545170.1	-	2	177_178	c.109_110delGC	c.(109-111)afs	p.A37fs	ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000532032.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000554491.1_5'UTR	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	37	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CAGCTGATGTGCAATTGAGGAT	0.396													29	243	---	---	---	---					
MAGEL2	54551	broad.mit.edu	37	15	23889765	23889766	+	Frame_Shift_Ins	INS	-	-	CTCA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr15:23889765_23889766insCTCA	ENST00000532292.1	-	1	1409_1410	c.1315_1316insTGAG	c.(1315-1317)gcgfs	p.A439fs		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCCGAGCGCTGGACAGGCACC	0.500													19	34	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													9	34	---	---	---	---					
HP	3240	broad.mit.edu	37	16	72093094	72093095	+	Frame_Shift_Ins	INS	-	-	CTGAGCA			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:72093094_72093095insCTGAGCA	ENST00000569639.1	+	4	302_303	c.272_273insCTGAGCA	c.(271-273)ttgfs	p.L91fs	HP_ENST00000398131.2_Intron|HP_ENST00000355906.5_Intron|HP_ENST00000565574.1_Intron|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Intron			P00738	HPT_HUMAN	haptoglobin	92	Sushi 2.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCAGGTGGGTGCTGAGCACTTA	0.520													9	246	---	---	---	---					
RFWD3	55159	broad.mit.edu	37	16	74660329	74660329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:74660329delA	ENST00000361070.4	-	12	2190	c.2093delT	c.(2092-2094)cafs	p.L699fs	RFWD3_ENST00000571750.1_Frame_Shift_Del_p.L699fs	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	699					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTTGGTCAATAGTTTGCAAGT	0.468													30	677	---	---	---	---					
CHMP1A	5119	broad.mit.edu	37	16	89712364	89712365	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr16:89712364_89712365insG	ENST00000253475.5	-	6	812_813	c.680_681insC	c.(679-681)ggcfs	p.G227fs	CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GCAGAGTGGCTGCCGGCCGCAG	0.649													3	6	---	---	---	---					
STAT3	6774	broad.mit.edu	37	17	40468878	40468879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:40468878_40468879insG	ENST00000264657.5	-	23	2497_2498	c.2185_2186insC	c.(2185-2187)cacfs	p.H729fs	STAT3_ENST00000389272.3_Frame_Shift_Ins_p.H631fs|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.H728fs|STAT3_ENST00000588969.1_Frame_Shift_Ins_p.H729fs|STAT3_ENST00000585517.1_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	729					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ATCTAAAGTGCGGGGGGACATC	0.510									Hyperimmunoglobulin E Recurrent Infection Syndrome				8	813	---	---	---	---					
DLX4	1748	broad.mit.edu	37	17	48051124	48051125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:48051124_48051125insG	ENST00000240306.3	+	3	835_836	c.540_541insG	c.(538-543)tcggggfs	p.SG180fs	DLX4_ENST00000411890.2_Frame_Shift_Ins_p.SG108fs	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	180					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						AGCAGAATTCTGGGGGGCAGGA	0.550													7	285	---	---	---	---					
OR4D2	124538	broad.mit.edu	37	17	56247751	56247752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:56247751_56247752insA	ENST00000545221.1	+	1	735_736	c.735_736insA	c.(733-738)attggtfs	p.G246fs		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCCACATCATCGTGGTTTCCAT	0.530													23	577	---	---	---	---					
SEC14L1	6397	broad.mit.edu	37	17	75205481	75205482	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr17:75205481_75205482delCT	ENST00000413679.2	+	14	1837_1838	c.1534_1535delCT	c.(1534-1536)gfs	p.L512fs	SEC14L1_ENST00000430767.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000431431.2_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000591437.1_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000443798.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000436233.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000392476.2_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000585618.1_Frame_Shift_Del_p.L512fs	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	512					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGCAGAGGAGCTGGAGAACGAA	0.550													10	76	---	---	---	---					
IMPA2	3613	broad.mit.edu	37	18	12030413	12030414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:12030413_12030414insA	ENST00000269159.3	+	8	1065_1066	c.823_824insA	c.(823-825)ggcfs	p.G275fs	IMPA2_ENST00000588927.1_Frame_Shift_Ins_p.G86fs|IMPA2_ENST00000589238.1_Frame_Shift_Ins_p.G86fs	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	275					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GCTCATAGCTCAGGCCTTACAG	0.619													9	278	---	---	---	---					
DSG4	147409	broad.mit.edu	37	18	28992968	28992969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr18:28992968_28992969insC	ENST00000359747.4	+	15	2619_2620	c.2590_2591insC	c.(2590-2592)gatfs	p.D864fs	DSG4_ENST00000308128.4_Frame_Shift_Ins_p.D845fs|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	845					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTCTTGCTGAGATCTGCTTA	0.421													18	242	---	---	---	---					
CD97	976	broad.mit.edu	37	19	14516662	14516663	+	Frame_Shift_Ins	INS	-	-	ACAGG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:14516662_14516663insACAGG	ENST00000242786.5	+	14	1812_1813	c.1732_1733insACAGG	c.(1732-1734)gcgfs	p.A578fs	CD97_ENST00000358600.3_Frame_Shift_Ins_p.A485fs|CD97_ENST00000357355.3_Frame_Shift_Ins_p.A529fs|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	578					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCAGGGCTCGCGCACCACC	0.639													20	162	---	---	---	---					
NUDT19	390916	broad.mit.edu	37	19	33200241	33200242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:33200241_33200242insA	ENST00000397061.3	+	2	865_866	c.865_866insA	c.(865-867)aagfs	p.K289fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	289						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGAAGGACTGGAAAGGTGGCTG	0.455													16	423	---	---	---	---					
ZNF419	79744	broad.mit.edu	37	19	58004916	58004917	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr19:58004916_58004917delAT	ENST00000424930.2	+	5	1223_1224	c.994_995delAT	c.(994-996)gfs	p.M332fs	ZNF419_ENST00000426954.2_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000442920.2_Frame_Shift_Del_p.M318fs|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000221735.7_Frame_Shift_Del_p.M331fs|ZNF419_ENST00000347466.6_Frame_Shift_Del_p.M299fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.M285fs	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CTCCAGCCTCATGAAACATCAG	0.401													39	119	---	---	---	---					
SLC9A8	23315	broad.mit.edu	37	20	48472092	48472092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr20:48472092delC	ENST00000417961.1	+	8	945	c.735delC	c.(733-735)aafs	p.N245fs	SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.N10fs|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000361573.2_Frame_Shift_Del_p.N229fs	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	229						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTATTCTCAACGATGCAGTCT	0.448													8	107	---	---	---	---					
IFNAR1	3454	broad.mit.edu	37	21	34725169	34725170	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr21:34725169_34725170insT	ENST00000270139.3	+	9	1401_1402	c.1249_1250insT	c.(1249-1251)aagfs	p.K417fs	IFNAR1_ENST00000416947.2_Frame_Shift_Ins_p.K348fs|IFNAR1_ENST00000442357.2_Intron	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	417	Fibronectin type-III 3.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AAAGCTGAATAAAAGCAGTGTT	0.322													17	70	---	---	---	---					
KCNJ6	3763	broad.mit.edu	37	21	38997604	38997604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr21:38997604delC	ENST00000400482.3	-	4	1718	c.1129delG	c.(1129-1131)cafs	p.A377fs	KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.A377fs	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	377					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGCAGCTCTGCCCTGCTGGCT	0.517													15	156	---	---	---	---					
PARVB	29780	broad.mit.edu	37	22	44547421	44547422	+	In_Frame_Ins	INS	-	-	TTG			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:44547421_44547422insTTG	ENST00000338758.6	+	10	896_897	c.833_834insTTG	c.(832-834)cga>cTTGga	p.278_278R>LG	PARVB_ENST00000404989.1_In_Frame_Ins_p.241_241R>LG|PARVB_ENST00000406477.3_In_Frame_Ins_p.311_311R>LG	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	278	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACGGAACTGGAGACCCAGG	0.510													12	450	---	---	---	---					
PKDREJ	10343	broad.mit.edu	37	22	46654994	46654994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3365-01A-01W-0886-08	TCGA-A3-3365-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4438bff-fca3-4967-a447-ab247e553fbf	aeed7fad-c565-4090-a6e9-1d21a36f5e2b	g.chr22:46654994delT	ENST00000253255.5	-	1	4225	c.4226delA	c.(4225-4227)atfs	p.N1409fs		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1409					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTATTTAGATTAAAGAACAT	0.338													10	206	---	---	---	---					
