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
RASGEF1A	221002	broad.mit.edu	37	10	43693500	43693500	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:43693500C>T	ENST00000395809.1	-	10	3682	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	RASGEF1A_ENST00000395810.1_Silent_p.L392L|RASGEF1A_ENST00000374459.1_Silent_p.L400L			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	392	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGATTTTGTGCAGGAAGTAGA	0.552000											OREG0020135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	125					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93944025	93944025	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:93944025C>A	ENST00000553484.1	+	4	724	c.570C>A	c.(568-570)caC>caA	p.H190Q	UNC79_ENST00000555664.1_Missense_Mutation_p.H190Q|UNC79_ENST00000256339.4_Missense_Mutation_p.H13Q|UNC79_ENST00000393151.2_Missense_Mutation_p.H190Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	190						integral to membrane				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						CATTTCTGCACAAGGATATCA	0.338000													13	578					0.00498961	0.00510841	1	1	0
DHX58	79132	broad.mit.edu	37	17	40253820	40253820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:40253820G>A	ENST00000251642.3	-	14	2218	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	666					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCACAATGCTGCAGGAAGTCA	0.617000											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	190					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161396	29161396	+	Silent	SNP	G	G	T	rs114289357	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:29161396G>T	ENST00000321990.4	+	2	675	c.297G>T	c.(295-297)acG>acT	p.T99T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	99					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAGACTGTACGACACCTTTGG	0.343000													31	86					6.05902e-23	6.70502e-23	1	1	0
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:57256464T>A	ENST00000278426.3	-	13	1691		c.e13-2		SLC43A1_ENST00000528450.1_Splice_Site	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1						cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTCACAAACTAAAACCAAAA	0.532000													6	119					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607638	84607638	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:84607638C>G	ENST00000344803.2	+	4	2300	c.2253C>G	c.(2251-2253)agC>agG	p.S751R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCGCATCAAGCTTCCCTAGAA	0.448000													15	71					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678746	100678746	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:100678746C>T	ENST00000306151.4	+	3	4113	c.4049C>T	c.(4048-4050)gCc>gTc	p.A1350V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1350	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACTGGTGGCCAGTTCTGCA	0.463000													7	343					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693389	51693389	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:51693389A>T	ENST00000267012.4	-	6	578		c.e6+1		BIN2_ENST00000452142.2_Splice_Site|BIN2_ENST00000544402.1_Splice_Site|BIN2_ENST00000604560.1_Splice_Site	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2							cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTTTTGTTTTACCTTGGCAGT	0.502000													8	492					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113942608	113942608	+	Silent	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:113942608C>A	ENST00000245796.6	+	3	1326	c.1131C>A	c.(1129-1131)gtC>gtA	p.V377V	PSD4_ENST00000441564.2_Silent_p.V377V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	377					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						caggatgtgtcggatctgatc	0.537000													53	1033					4.86159e-25	5.39978e-25	1	1	0
XDH	7498	broad.mit.edu	37	2	31621492	31621492	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:31621492A>G	ENST00000379416.3	-	5	428	c.380T>C	c.(379-381)cTg>cCg	p.L127P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	127					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATTCCGGAGCAGTGTGTACAT	0.547000													4	401					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228459673	228459673	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:228459673C>T	ENST00000570156.2	+	20	5811	c.5737C>T	c.(5737-5739)Cag>Tag	p.Q1913*	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.Q385*|RP5-1139B12.2_ENST00000602517.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	896	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCAAGGATCAGCCGGTGCA	0.602000													5	14					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758992	55758992	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:55758992A>T	ENST00000343399.3	+	1	98	c.98A>T	c.(97-99)tAc>tTc	p.Y33F		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTGTTACCTACATGTTAAGT	0.413000													6	724					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119336869	119336869	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:119336869A>T	ENST00000273371.4	+	7	830	c.758A>T	c.(757-759)tAt>tTt	p.Y253F	PLA1A_ENST00000495992.1_Missense_Mutation_p.Y237F|PLA1A_ENST00000494440.1_Missense_Mutation_p.Y237F|PLA1A_ENST00000488919.1_Missense_Mutation_p.Y80F	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	253					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTTCAGGTTATAGTTATCTG	0.428000													6	548					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104231152	104231152	+	Splice_Site	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:104231152A>G	ENST00000238936.4	+	6	1064	c.828_splice	c.e6+1	p.Q276_splice	TMEM180_ENST00000369931.3_Splice_Site_p.Q125_splice|TMEM180_ENST00000366277.2_Splice_Site_p.Q5_splice	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	276						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GACCTGGTGCAGGTATGGGGA	0.627000													26	88					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4352949	4352949	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:4352949A>G	ENST00000599840.1	+	4	622	c.587A>G	c.(586-588)gAc>gGc	p.D196G	MPND_ENST00000262966.8_Missense_Mutation_p.D196G|MPND_ENST00000359935.4_Missense_Mutation_p.D196G|AC007292.4_ENST00000594776.1_RNA			Q8N594	MPND_HUMAN	MPN domain containing	196							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		gaggaggaggaCGTTCTGGCA	0.657000													25	36					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40668383	40668383	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:40668383A>T	ENST00000298910.7	+	15	1714		c.e15-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTTGATTTTAGTTCATTGGA	0.308000													6	253					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20080431	20080431	+	Splice_Site	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:20080431G>C	ENST00000351989.3	+	8	2134		c.e8+1		DGCR8_ENST00000407755.1_Intron|DGCR8_ENST00000383024.2_Intron	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit						primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AATAAAGCTGGTAACGTGCTT	0.527000													47	175					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3727534	3727534	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:3727534C>T	ENST00000252505.3	+	5	410	c.248C>T	c.(247-249)aCg>aTg	p.T83M		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	102							allantoicase activity	p.T83M(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCTTACTTCACGGGAGATTAC	0.532000										HNSCC(21;0.051)			94	212					0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95416181	95416181	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:95416181T>A	ENST00000333003.5	-	14	1968		c.e14-2			NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGGATAACCTAAAAAAAGAA	0.328000													5	250					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25419775	25419775	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:25419775A>T	ENST00000315368.3	+	29	2341		c.e29-1		ANAPC4_ENST00000510092.1_Splice_Site	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCTTTTTTAGTTAAGCTCA	0.328000													6	153					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17195548	17195548	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:17195548G>C	ENST00000377799.3	-	10	1080	c.1033C>G	c.(1033-1035)Cct>Gct	p.P345A	TRDMT1_ENST00000488990.1_Missense_Mutation_p.P222A|TRDMT1_ENST00000457442.2_Missense_Mutation_p.P264A|TRDMT1_ENST00000412821.3_Missense_Mutation_p.P321A|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.P299A|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000377766.5_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	345					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						ATTTCTTTAGGAGTGAAATAT	0.338000													7	30					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7174353	7174353	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:7174353G>A	ENST00000406697.1	+	12	1626	c.998G>A	c.(997-999)gGt>gAt	p.G333D	C1S_ENST00000402681.3_Missense_Mutation_p.G166D|C1S_ENST00000360817.5_Missense_Mutation_p.G333D|C1S_ENST00000328916.3_Missense_Mutation_p.G333D			P09871	C1S_HUMAN	complement component 1, s subcomponent	333	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGACGTGTTGGTGCAACATCT	0.383000													87	299					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45745648	45745648	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:45745648A>C	ENST00000357450.4	-	23	3455	c.3456T>G	c.(3454-3456)gaT>gaG	p.D1152E	SMC1B_ENST00000404354.3_Intron	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1152	Ala/Asp-rich (DA-box).				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATCCACTTCATCTAAAACAA	0.338000													11	93					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	161					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158980	102158980	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:102158980G>C	ENST00000299314.7	-	13	1977	c.1715C>G	c.(1714-1716)gCc>gGc	p.A572G		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	572					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTCTTTTGGCTACTTCTGC	0.398000													4	411					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130420652	130420652	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:130420652A>T	ENST00000373302.3	+	4	308		c.e4-1		STXBP1_ENST00000373299.1_Splice_Site	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1						axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TTTGTTGTCTAGTTGTGGAAG	0.458000													5	250					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955948	57955948	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:57955948A>C	ENST00000334181.4	+	3	1682	c.1432A>C	c.(1432-1434)Att>Ctt	p.I478L	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GAGGATTGACATTAGGCCAAG	0.458000													4	373					0	0	1	0	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281737	41281737	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:41281737G>A	ENST00000600729.1	+	3	630	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	MIA_ENST00000263369.3_Missense_Mutation_p.V70M|MIA_ENST00000594436.1_Missense_Mutation_p.V70M|MIA_ENST00000597784.1_Missense_Mutation_p.V70M																							GGGCCAAGTGGTGTATGTCTT	0.592000													3	92					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177909747	177909747	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:177909747C>T	ENST00000308284.6	-	17	2214	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	709					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCACTCACCTCCAGCTGCCTC	0.557000													7	65					0	0	1	0	0
AHSA2	130872	broad.mit.edu	37	2	61413601	61413601	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:61413601C>G	ENST00000394457.2	+	5	1956	c.213C>G	c.(211-213)atC>atG	p.I71M	AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Missense_Mutation_p.I80M|AHSA2_ENST00000357022.2_Missense_Mutation_p.I71M	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	233					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			AGAAGATCATCATGAAATGGA	0.363000													37	74					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49576416	49576416	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:49576416A>T	ENST00000244051.1	+	1	1054	c.1037A>T	c.(1036-1038)gAt>gTt	p.D346V		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	346					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGACTGCTGGATTCTGGGGCA	0.542000													141	286					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137779	32137779	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:32137779T>G	ENST00000312561.4	+	4	4304	c.3890T>G	c.(3889-3891)tTg>tGg	p.L1297W	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AGAAAAAAATTGAGGTTTCAC	0.358000													11	32					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68355413	68355413	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:68355413A>G	ENST00000393799.2	+	16	1918	c.1651A>G	c.(1651-1653)Atg>Gtg	p.M551V	PPP6R3_ENST00000524845.1_Missense_Mutation_p.M522V|PPP6R3_ENST00000393801.3_Missense_Mutation_p.M551V|PPP6R3_ENST00000534534.1_Missense_Mutation_p.M319V|PPP6R3_ENST00000393800.2_Missense_Mutation_p.M551V|PPP6R3_ENST00000529710.1_Missense_Mutation_p.M471V|PPP6R3_ENST00000265637.4_Intron|PPP6R3_ENST00000527403.2_Splice_Site_p.M516_splice|PPP6R3_ENST00000524904.1_Splice_Site_p.M545_splice|PPP6R3_ENST00000265636.5_Missense_Mutation_p.M471V			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	551					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGATTATCAGATGCAACAAAT	0.383000													72	276					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103380788	103380788	+	Splice_Site	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:103380788C>T	ENST00000412401.2	+	3	438	c.232_splice	c.e3-1	p.T78_splice	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Splice_Site_p.T35_splice|TMEM182_ENST00000409528.1_5'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	78						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTCTTCCTAGCCAATCAGCCA	0.468000													72	238					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				5	332					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:39274319G>C	ENST00000391413.2	-	1	287	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S83R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTTGCAGCAGCTGGACACAC	0.662000													5	42					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914807	61914807	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:61914807C>T	ENST00000448276.2	-	2	660	c.395G>A	c.(394-396)cGc>cAc	p.R132H	SMARCD2_ENST00000323347.10_Missense_Mutation_p.R84H|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R57H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	132					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TTACCCCCGGCGCTGGGCAGG	0.587000													4	190					0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141363016	141363016	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:141363016T>C	ENST00000394520.2	+	7	1444	c.1135T>C	c.(1135-1137)Tat>Cat	p.Y379H	RNF14_ENST00000347642.3_Missense_Mutation_p.Y379H|RNF14_ENST00000394515.3_Missense_Mutation_p.Y203H|RNF14_ENST00000394514.2_Missense_Mutation_p.Y253H|RNF14_ENST00000356143.1_Missense_Mutation_p.Y379H|RNF14_ENST00000540015.1_Missense_Mutation_p.Y76H|RNF14_ENST00000394519.1_Missense_Mutation_p.Y379H	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	379	Interaction with androgen receptor.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GGATCAAAGGTATGGTAAGAG	0.393000													9	55					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548680	52548680	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:52548680G>A	ENST00000242839.4	-	2	832	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	ATP7B_ENST00000400366.3_Missense_Mutation_p.R226W|ATP7B_ENST00000542656.1_Missense_Mutation_p.R194W|ATP7B_ENST00000448424.2_Missense_Mutation_p.R226W|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.R226W|ATP7B_ENST00000400370.3_Missense_Mutation_p.R226W|ATP7B_ENST00000418097.2_Missense_Mutation_p.R226W	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	226					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTTTGTAACCGCTCAATATCA	0.468000									Wilson disease				4	333					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2195926	2195926	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:2195926T>A	ENST00000544865.1	-	6	2676		c.e6-2		SMG6_ENST00000263073.5_Splice_Site			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGTACCAACTAGAACAGAAA	0.428000													12	370					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20000054	20000054	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:20000054C>T	ENST00000395529.3	+	2	142	c.90C>T	c.(88-90)tcC>tcT	p.S30S	SPECC1_ENST00000395527.4_Silent_p.S30S|SPECC1_ENST00000261503.5_Silent_p.S30S|SPECC1_ENST00000472876.1_Intron	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	30						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CAGCCTCTTCCGGCATGAAGA	0.602000													48	220					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116343	220116343	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:220116343G>A	ENST00000392088.2	-	3	829	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	TUBA4A_ENST00000248437.4_Missense_Mutation_p.H107Y|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	107					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGTATAGTGACCACGGGCA	0.537000													6	321					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						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						TTTTTCTTTTAGTTATTACAA	0.333000													9	115					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62749239	62749239	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:62749239A>C	ENST00000280377.5	+	8	956	c.898A>C	c.(898-900)Atg>Ctg	p.M300L	USP15_ENST00000353364.3_Missense_Mutation_p.M271L|USP15_ENST00000393654.3_Missense_Mutation_p.M275L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	300					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TACGTGTTTCATGAACTCAGC	0.373000													38	113					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262							transcription factor binding	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517000													3	24					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726091	55726091	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:55726091A>T	ENST00000379667.1	+	1	607	c.607A>T	c.(607-609)Act>Tct	p.T203S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGCTTTGGTTACTTTGCTGTT	0.373000													5	391					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411955	51411955	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:51411955C>G	ENST00000319760.6	-	1	493	c.441G>C	c.(439-441)atG>atC	p.M147I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AACCTCCAATCATGGCCACCA	0.458000													3	215					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54964117	54964117	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:54964117G>A	ENST00000243052.3	+	6	1006	c.570G>A	c.(568-570)cgG>cgA	p.R190R	PDE1B_ENST00000550620.1_Silent_p.R170R|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.R149R	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	190					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						TGCTGACTCGGCATAACCTCA	0.512000													5	753					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													3	137					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156852	193156852	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:193156852T>A	ENST00000342695.4	-	22	2844	c.2522A>T	c.(2521-2523)tAc>tTc	p.Y841F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y822F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	841					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACCTACAAAGTAACTAAGAGG	0.368000													5	433					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46985656	46985656	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:46985656A>T	ENST00000306503.5	+	2	160		c.e2-1		SOCS5_ENST00000394861.2_Splice_Site	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5						cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTTTGTCTTTAGATTTTATAA	0.383000													3	37					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149181205	149181205	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:149181205C>A	ENST00000355292.3	-	3	2184	c.1822G>T	c.(1822-1824)Gat>Tat	p.D608Y	NR3C2_ENST00000342437.4_Missense_Mutation_p.D608Y|NR3C2_ENST00000344721.4_Missense_Mutation_p.D608Y|NR3C2_ENST00000358102.3_Missense_Mutation_p.D608Y|NR3C2_ENST00000512865.1_Missense_Mutation_p.D608Y|NR3C2_ENST00000511528.1_Missense_Mutation_p.D608Y			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	608					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GAAGCCTCATCCCCACACACC	0.423000													11	214					0.000308642	0.000321458	1	1	0
RAB24	53917	broad.mit.edu	37	5	176728957	176728957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:176728957G>T	ENST00000303270.6	-	6	1031	c.429C>A	c.(427-429)taC>taA	p.Y143*	RAB24_ENST00000303251.6_Nonsense_Mutation_p.Y172*|RAB24_ENST00000393611.2_Nonsense_Mutation_p.Y172*			Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	172					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			CCACACTGACGTAATCCTCTG	0.552000													4	112					0.00116845	0.00121277	1	1	0
WARS2	10352	broad.mit.edu	37	1	119576009	119576009	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:119576009T>A	ENST00000369426.5	-	6	640	c.637A>T	c.(637-639)Atg>Ttg	p.M213L	WARS2_ENST00000235521.4_Intron|WARS2_ENST00000537870.1_Intron			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	0					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AACACACACATACCCAAAACA	0.393000													5	384					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52084648	52084648	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:52084648C>T	ENST00000262259.2	+	3	435	c.77C>T	c.(76-78)tCa>tTa	p.S26L	ZNF175_ENST00000596504.1_Missense_Mutation_p.S26L|ZNF175_ENST00000436511.2_Missense_Mutation_p.S26L	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	26					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TTACAGGCATCAGTGTCATTT	0.522000													79	142					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75949488	75949488	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:75949488C>A	ENST00000308527.5	+	2	2854	c.1657C>A	c.(1657-1659)Cag>Aag	p.Q553K		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	553	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTGCGCCAGCAGATCCTCTT	0.627000													8	181					0.00448238	0.00460477	1	1	0
KLK6	5653	broad.mit.edu	37	19	51466690	51466690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:51466690G>A	ENST00000376851.3	-	4	752	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	KLK6_ENST00000594641.1_Nonsense_Mutation_p.Q105*|KLK6_ENST00000310157.2_Nonsense_Mutation_p.Q105*|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_5'UTR	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	105	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATGATGTCCTGGTCATGGCTG	0.597000													8	25					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52518307	52518307	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:52518307C>T	ENST00000242839.4	-	14	3337	c.3181G>A	c.(3181-3183)Ggg>Agg	p.G1061R	ATP7B_ENST00000400366.3_Missense_Mutation_p.G950R|ATP7B_ENST00000448424.2_Missense_Mutation_p.G983R|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Missense_Mutation_p.G854R|ATP7B_ENST00000400370.3_Missense_Mutation_p.G631R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G996R|ATP7B_ENST00000417240.2_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1061			G -> E (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TCCGCAGTCCCCACCACAGCC	0.637000									Wilson disease				20	68					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31904239	31904239	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:31904239A>T	ENST00000432498.1	+	2	363		c.e2-1		SFI1_ENST00000443326.1_Splice_Site|SFI1_ENST00000414585.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000400288.2_Splice_Site|SFI1_ENST00000540643.1_Splice_Site	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTTTTCTTGTAGTTAGAAGGG	0.378000													4	74					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													9	327					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161026093	161026093	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:161026093G>T	ENST00000447678.1	-	19	3050	c.2930C>A	c.(2929-2931)gCa>gAa	p.A977E	LPA_ENST00000316300.5_Missense_Mutation_p.A977E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3485	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.A977E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGGTAGTATGCTGGGGTCCG	0.438000													17	1388					0.00136819	0.00141521	1	1	0
ANO6	196527	broad.mit.edu	37	12	45781942	45781942	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:45781942A>T	ENST00000320560.8	+	11	1367		c.e11-1		ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000423947.3_Splice_Site|ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000426898.2_Splice_Site	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6						activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTCTCTGTTAGTTACCTTGT	0.398000													7	328					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100182265	100182265	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:100182265A>T	ENST00000395996.1	+	16	2319		c.e16-1		VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000355155.1_Splice_Site|VPS13B_ENST00000358544.2_Splice_Site|VPS13B_ENST00000521932.1_Splice_Site			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)						protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTTGTTTTAGATATTTGGT	0.403000													6	254					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54428053	54428053	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:54428053A>G	ENST00000371370.3	+	7	1419	c.898A>G	c.(898-900)Aac>Gac	p.N300D	LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Missense_Mutation_p.N300D	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	300										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGATCATAGTAACTGCAAGAC	0.463000													22	39					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33245096	33245096	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:33245096G>C	ENST00000373477.4	-	12	2271	c.1363C>G	c.(1363-1365)Ctg>Gtg	p.L455V	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	455	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GGAGGGTCCAGAGGTTCAACC	0.537000													13	88					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50363543	50363543	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:50363543C>T	ENST00000221557.9	+	12	1092	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	PTOV1_ENST00000391842.1_3'UTR|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_3'UTR|PTOV1_ENST00000601675.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.Y364Y|PTOV1_ENST00000599732.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	22	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTAGTGGTTACCCCGGGCTGG	0.672000													4	11					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42172238	42172238	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:42172238C>A	ENST00000401548.3	+	21	2717	c.2677C>A	c.(2677-2679)Ctg>Atg	p.L893M	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.L211M|MEI1_ENST00000400107.1_Missense_Mutation_p.L261M	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	893							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGCAGCGTCTGCTAGTGGA	0.557000													56	118					9.74007e-18	1.07391e-17	1	1	0
HOPX	84525	broad.mit.edu	37	4	57522158	57522158	+	Silent	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:57522158C>A	ENST00000554144.1	-	3	597	c.63G>T	c.(61-63)gcG>gcT	p.A21A	HOPX_ENST00000555760.2_Silent_p.A3A|HOPX_ENST00000556614.2_Silent_p.A3A|HOPX_ENST00000553379.2_Silent_p.A3A|HOPX_ENST00000381260.3_Silent_p.A3A|HOPX_ENST00000317745.7_Silent_p.A3A|HOPX_ENST00000420433.1_Silent_p.A21A|HOPX_ENST00000337881.7_Silent_p.A3A|HOPX_ENST00000503639.3_Silent_p.A3A|HOPX_ENST00000556376.2_Silent_p.A3A|HOPX_ENST00000381255.3_Silent_p.A3A|HOPX_ENST00000508121.1_Silent_p.A21A	NM_001145460.1	NP_001138932.1	Q9BPY8	HOP_HUMAN	HOP homeobox	3					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					TCGCGGTCTCCGCCGACATGG	0.692000													6	13					2.17888e-05	2.29315e-05	1	1	0
TTLL5	23093	broad.mit.edu	37	14	76186076	76186076	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:76186076A>T	ENST00000298832.9	+	11	1047		c.e11-1		TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Splice_Site	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AATTTGTTTTAGTTGTGACGA	0.353000													6	205					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917807	2917807	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:2917807A>C	ENST00000306908.5	+	4	1336	c.1188A>C	c.(1186-1188)caA>caC	p.Q396H	ZNF57_ENST00000523428.1_Missense_Mutation_p.Q364H|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTGAACAATGTGGGAAGG	0.428000													3	214					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493711	27493711	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:27493711G>A	ENST00000527372.1	-	2	428	c.248C>T	c.(247-249)tCc>tTc	p.S83F	MYO18A_ENST00000531253.1_Missense_Mutation_p.S83F|MYO18A_ENST00000533112.1_Missense_Mutation_p.S83F|MYO18A_ENST00000354329.4_Missense_Mutation_p.S83F	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	83					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTTACTATCGGAGTCAATGTC	0.607000													9	85					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:7577547C>T	ENST00000420246.2	-	7	866	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTTCATGCCGCCCATGCA	0.582000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	510					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160136441	160136441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160136441C>T	ENST00000368081.4	+	8	1642	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	391					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACCCTCACCCAGAACCGCAT	0.582000													4	425					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12139948	12139948	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:12139948C>T	ENST00000263035.4	+	8	1686	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	542					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGTAGAGGTGCCAAGAGAGCT	0.567000													4	258					0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31903770	31903770	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:31903770C>A	ENST00000343307.4	+	15	1611	c.1462C>A	c.(1462-1464)Cag>Aag	p.Q488K		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	488					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAAAGCCAGGCAGGAGACACA	0.502000													32	150					1.21669e-08	1.31735e-08	1	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1718106	1718106	+	Silent	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:1718106C>A	ENST00000397412.3	+	18	3345	c.3246C>A	c.(3244-3246)ggC>ggA	p.G1082G	CRAMP1L_ENST00000293925.5_Silent_p.G1082G|CRAMP1L_ENST00000262317.4_Silent_p.G460G|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.G1079G			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1082	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTGCCCGGCCCACCTGAGG	0.617000													9	141					0.0581538	0.058937	1	1	0
GPRC5C	55890	broad.mit.edu	37	17	72443073	72443073	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:72443073A>G	ENST00000392627.1	+	4	2493	c.1367A>G	c.(1366-1368)gAa>gGa	p.E456G	GPRC5C_ENST00000342648.5_Missense_Mutation_p.E96G|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.E423G	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	411						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CTGCGGGCTGAAGACATGTAC	0.602000													61	95					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394355	64394355	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:64394355A>G	ENST00000262043.3	+	4	1072	c.732A>G	c.(730-732)ggA>ggG	p.G244G	PHF3_ENST00000393387.1_Silent_p.G244G|PHF3_ENST00000509330.1_Silent_p.G244G			Q92576	PHF3_HUMAN	PHD finger protein 3	244					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAATCCGGGAGAAATAGATG	0.343000													3	120					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTCTTGGTTACTTGCTGAAT	0.458000													6	424					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394703	52394703	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:52394703C>T	ENST00000354957.3	-	5	970	c.686G>A	c.(685-687)aGa>aAa	p.R229K	ZNF649_ENST00000600738.1_Intron|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	229					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)		TTTCTCTCCTCTGTGAGCTCT	0.488000													5	241					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													14	712					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418000													6	222					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32560798	32560798	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:32560798C>A	ENST00000319778.6	-	13	2355	c.2053G>T	c.(2053-2055)Gta>Tta	p.V685L	EPC1_ENST00000263062.8_Missense_Mutation_p.V708L|EPC1_ENST00000375110.2_Missense_Mutation_p.V635L	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	708					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CTTGTATGTACAAGTGCTGTT	0.398000													4	110					0.014758	0.0150582	1	1	0
OR1J1	347168	broad.mit.edu	37	9	125239517	125239517	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:125239517G>T	ENST00000259357.2	-	1	718	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCCCTTGGTAGAGGGAATCTG	0.458000													8	217					0.000157383	0.000165061	1	1	0
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTCAAAGGCTCTACCACATAC	0.433000													5	334					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67890877	67890877	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:67890877C>T	ENST00000370994.4	-	3	608	c.494G>A	c.(493-495)cGt>cAt	p.R165H	SERBP1_ENST00000370990.5_Missense_Mutation_p.R165H|SERBP1_ENST00000370995.2_Missense_Mutation_p.R165H|SERBP1_ENST00000361219.6_Missense_Mutation_p.R165H	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	165					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						AAGACCACCACGACCTCGAAT	0.438000													4	37					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084726	39084726	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:39084726C>T	ENST00000209718.3	-	5	1194	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	KRT23_ENST00000436344.3_Missense_Mutation_p.R120Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	257	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCAAGTCTCGATGCTTCTT	0.423000													33	323					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782762	223782762	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:223782762A>T	ENST00000357430.3	+	6	1087		c.e6-1		AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Splice_Site	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3						long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTCCTTTTAGTTGTTACAT	0.358000			T	ETV1	prostate								7	139					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53311289	53311289	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:53311289A>G	ENST00000457749.2	-	3	232	c.113T>C	c.(112-114)cTg>cCg	p.L38P	ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_Missense_Mutation_p.L2P|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000594602.1_Missense_Mutation_p.L38P	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATAATTCTCCAGCATCACATC	0.507000													4	406					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22207840	22207840	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:22207840C>T	ENST00000374695.3	-	14	1889	c.1810G>A	c.(1810-1812)Ggc>Agc	p.G604S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	604	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACCTTGTTGCCCAGGAACTGT	0.612000													39	109					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38651166	38651166	+	RNA	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:38651166A>T	ENST00000494540.1	+	0	314					NR_003086.1																						TTGGTGGTTTAGTTGCAGGTT	0.383000													5	92					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33700423	33700423	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:33700423C>T	ENST00000354992.2	-	13	2093	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	LARGE_ENST00000452586.2_Missense_Mutation_p.A307T|LARGE_ENST00000437602.2_Missense_Mutation_p.A508T|LARGE_ENST00000337431.2_Missense_Mutation_p.A456T|LARGE_ENST00000397394.2_Missense_Mutation_p.A508T|LARGE_ENST00000402320.1_Missense_Mutation_p.A456T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	508					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGGGCCTCGGCGTCTGACAGG	0.637000													56	167					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90079095	90079095	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:90079095G>A	ENST00000405460.2	+	66	13482	c.13386G>A	c.(13384-13386)ggG>ggA	p.G4462G	GPR98_ENST00000425867.2_Silent_p.G123G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4462	Calx-beta 30.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAGCATGGGCAAAACTTAA	0.388000													71	81					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98887143	98887143	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:98887143A>T	ENST00000477737.1	+	22	3047		c.e22-1		VWA3B_ENST00000490947.2_Splice_Site	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						tttgtttTTTAGGTTAGATGC	0.318000													5	133					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65332750	65332750	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:65332750C>T	ENST00000342505.4	-	7	1037	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	263	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCAGGTCATGCGTGGACACGC	0.398000			Mis		ALL								5	743					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66619369	66619369	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:66619369A>G	ENST00000262146.4	+	6	768	c.642A>G	c.(640-642)cgA>cgG	p.R214R	MTFR1_ENST00000458689.2_Silent_p.R181R|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	214						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTAAAGAACGAAGAGAGAAAA	0.483000													28	150					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1299182	1299182	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:1299182A>G	ENST00000397203.2	+	12	2721	c.2315A>G	c.(2314-2316)aAg>aGg	p.K772R	ERC1_ENST00000355446.5_Missense_Mutation_p.K772R|ERC1_ENST00000546231.2_Missense_Mutation_p.K772R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.K772R|ERC1_ENST00000543086.3_Missense_Mutation_p.K744R|ERC1_ENST00000589028.1_Missense_Mutation_p.K772R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	772					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAAAATGAGAAGAATGACAAA	0.403000													34	303					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587000													5	930					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000354608.5_Intron	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	gcagattaactaaccacagat	0.313000													7	256					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994156	8994156	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:8994156C>T	ENST00000397910.4	-	65	41732	c.41529G>A	c.(41527-41529)agG>agA	p.R13843R	MUC16_ENST00000380951.5_Silent_p.R484R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13846	SEA 12.			Missing (in Ref. 3; AAK74120).	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						GCAAGGTCAGCCTGCAGCCAG	0.532000													6	568					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404651	8404651	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:8404651G>A	ENST00000381196.4	-	33	4639	c.4096C>T	c.(4096-4098)Cct>Tct	p.P1366S	PTPRD_ENST00000360074.4_Missense_Mutation_p.P1353S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P956S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P959S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P956S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P959S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P960S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1366S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P1344S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1366S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P959S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1366	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCTGGCCAGGGTCAATTGAC	0.353000										TSP Lung(15;0.13)			8	40					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTTTTGTTTTAGTTAATACAC	0.438000													5	165					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44425996	44425996	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:44425996G>A	ENST00000372343.3	+	12	2766	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	702					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGCCCAGGTTGTGGAGGTGAG	0.542000													5	389					0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49454055	49454055	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:49454055C>T	ENST00000376150.3	-	5	516	c.384G>A	c.(382-384)ctG>ctA	p.L128L		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	128					cellular defense response			p.L128L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTGGATTTGGCAGGCCCAACT	0.488000													4	355					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37262227	37262227	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:37262227C>G	ENST00000310758.4	-	10	1420	c.773G>C	c.(772-774)aGg>aCg	p.R258T	ELMO1_ENST00000448602.1_Missense_Mutation_p.R258T|ELMO1_ENST00000442504.1_Missense_Mutation_p.R258T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	258					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACCTGCCTCCTCTCATCAGG	0.428000													250	241					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66621209	66621209	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:66621209A>T	ENST00000262146.4	+	8	1059		c.e8-1		MTFR1_ENST00000458689.2_Splice_Site	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1							mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GTTTGTTTCTAGTTTGGGCCA	0.403000													5	208					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907954	65907954	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:65907954G>T	ENST00000321892.4	+	13	4393	c.4332G>T	c.(4330-4332)caG>caT	p.Q1444H	BPTF_ENST00000424123.3_Missense_Mutation_p.Q1305H|BPTF_ENST00000306378.6_Missense_Mutation_p.Q1318H|BPTF_ENST00000335221.5_Missense_Mutation_p.Q1444H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1444					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCTGAACAGTTCAGAACTC	0.423000													13	134					7.93312e-07	8.4377e-07	1	1	0
KMT2C	58508	broad.mit.edu	37	7	152007049	152007049	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:152007049A>T	ENST00000355193.2	-	6	1068		c.e6+1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		TTGTCTACTTACTTCTGTGCT	0.378000													4	158					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86893269	86893269	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:86893269A>C	ENST00000395184.1	+	6	1146	c.680A>C	c.(679-681)aAg>aCg	p.K227T	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.K132T|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.K134T|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.K227T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	227	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCTTATGCGAAGTATGAAGAT	0.403000													11	234					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82336581	82336581	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:82336581C>A	ENST00000329713.4	-	2	1065	c.630G>T	c.(628-630)atG>atT	p.M210I	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	210	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CGTTCTCTGGCATGCCGGTCA	0.612000													117	91					1.50597e-38	1.68512e-38	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21036504	21036504	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:21036504A>G	ENST00000381545.3	+	13	1869	c.1650A>G	c.(1648-1650)acA>acG	p.T550T	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.T550T|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.T550T|SLCO1B3_ENST00000261196.2_Silent_p.T550T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	550					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCTCTGCAACAGGAGGTACCA	0.348000													39	99					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284813	152284813	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:152284813C>G	ENST00000368799.1	-	3	2584	c.2549G>C	c.(2548-2550)aGa>aCa	p.R850T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	850	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)			CTGCCTTCCTCTTCTGCTTGA	0.587000									Ichthyosis				5	518					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65392238	65392238	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:65392238G>T	ENST00000519389.1	+	3	550	c.371G>T	c.(370-372)gGg>gTg	p.G124V	HEPH_ENST00000419594.1_Missense_Mutation_p.G73V|HEPH_ENST00000441993.2_Missense_Mutation_p.G73V|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000343002.2_Missense_Mutation_p.G70V|HEPH_ENST00000374727.3_Missense_Mutation_p.G73V			Q9BQS7	HEPH_HUMAN	hephaestin	70	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AACCGGATAGGGGGAACCTAC	0.483000													8	47					1.76689e-08	1.90622e-08	1	1	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													5	174					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155533589	155533589	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:155533589T>A	ENST00000404648.3	-	2	318		c.e2-2		FGG_ENST00000336098.3_Splice_Site|FGG_ENST00000407946.1_Splice_Site|FGG_ENST00000405164.1_Splice_Site	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						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)	AGCAACATACTAAAAGAGAAA	0.358000													4	165					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161020597	161020597	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:161020597A>G	ENST00000447678.1	-	21	3342	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000316300.5_Silent_p.T1074T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498000													6	827					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047265	156047265	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:156047265G>A	ENST00000532414.2	-	2	662	c.663C>T	c.(661-663)ccC>ccT	p.P221P	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	221						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCACCTGGCCGGGCAGAGCAG	0.652000													16	24					0	0	1	0	0
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577000													5	378					0	0	1	0	0
PRRG4	79056	broad.mit.edu	37	11	32852052	32852052	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:32852052A>T	ENST00000257836.3	+	2	231		c.e2-1			NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)							extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					tGTTTGTTTTAGTTTGTTTGA	0.423000													4	23					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129814665	129814665	+	Splice_Site	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:129814665C>A	ENST00000358825.5	-	6	994		c.e6+1		PRDM10_ENST00000423662.2_Splice_Site|PRDM10_ENST00000304538.6_Splice_Site|PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site|PRDM10_ENST00000526082.1_Splice_Site	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCATAAATTACCTTGAGGTGA	0.517000													5	300					5.9392e-07	6.33936e-07	1	1	0
PAPOLB	56903	broad.mit.edu	37	7	4900199	4900199	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:4900199C>T	ENST00000404991.1	-	1	1426	c.1240G>A	c.(1240-1242)Gca>Aca	p.A414T	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	414					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TTCACATGTGCCAGTGTAATA	0.418000													5	815					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153197563	153197563	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:153197563C>T	ENST00000464845.1	-	6	665	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	NAA10_ENST00000393710.3_5'UTR|NAA10_ENST00000370009.1_Intron|NAA10_ENST00000370015.4_Missense_Mutation_p.R116Q|NAA10_ENST00000393712.3_Missense_Mutation_p.R116Q	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	116	N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CAGGGCGGCCCGGTTACTGCA	0.592000													3	72					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368000													7	474					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724304	49724304	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:49724304G>A	ENST00000551245.1	+	13	1787	c.1676G>A	c.(1675-1677)tGc>tAc	p.C559Y	TROAP_ENST00000547923.1_Missense_Mutation_p.C267Y|TROAP_ENST00000257909.3_Missense_Mutation_p.C559Y			Q12815	TROAP_HUMAN	trophinin associated protein	559	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTAGAGTCCTGCTGTAGGAGT	0.597000													6	229					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135394856	135394856	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:135394856C>A	ENST00000442011.2	+	13	1917	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M	TGFBI_ENST00000305126.8_Missense_Mutation_p.L586M|TGFBI_ENST00000508076.1_5'UTR	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	586	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCGGGGCCCTGGTGCGGCT	0.532000													6	49					2.61681e-11	2.86422e-11	1	1	0
MLLT4	4301	broad.mit.edu	37	6	168289893	168289893	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:168289893A>T	ENST00000366806.2	+	7	1039		c.e7-1		MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGTTTTTTTAGGTTATGCTT	0.328000			T	MLL	AL								4	106					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702557	40702557	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:40702557A>T	ENST00000372771.4	+	8	2210	c.2183A>T	c.(2182-2184)cAc>cTc	p.H728L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	728					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCTGCTTTTCACCTTCGAGAG	0.383000													4	272					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27838033	27838033	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:27838033A>T	ENST00000355467.4	+	11	1214		c.e11-1		RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Splice_Site|ZNF512_ENST00000416005.2_Splice_Site|ZNF512_ENST00000556601.1_Splice_Site|ZNF512_ENST00000379717.1_Splice_Site			Q96ME7	ZN512_HUMAN	zinc finger protein 512						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTTGTCTTGTAGTTAAAATAT	0.363000													4	124					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													6	105					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956103	57956103	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCC	0.453000													4	619					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495733	183495733	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|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													4	136					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791500	34791500	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:34791500T>C	ENST00000299505.6	+	2	995	c.122T>C	c.(121-123)cTg>cCg	p.L41P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	41										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCCGAGCACTGAGTGCTCCC	0.637000													8	25					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669073	80669073	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:80669073T>A	ENST00000557010.1	-	4	1166	c.781A>T	c.(781-783)Aat>Tat	p.N261Y	DIO2_ENST00000438257.4_Missense_Mutation_p.N261Y|DIO2_ENST00000555750.1_Missense_Mutation_p.N297Y|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	261					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTGCTGAAATTCTTCTCCAGC	0.383000													10	5					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219603432	219603432	+	Missense_Mutation	SNP	G	G	A	rs138326187	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:219603432G>A	ENST00000392102.1	+	3	1373	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	TTLL4_ENST00000258398.4_Missense_Mutation_p.A345T|TTLL4_ENST00000457313.1_Missense_Mutation_p.A180T|TTLL4_ENST00000442769.1_Missense_Mutation_p.A345T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	345					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAAATTGACCGCAAGAGGCTT	0.542000													5	391					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7851991	7851991	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:7851991G>A	ENST00000380262.3	+	17	3492	c.2567G>A	c.(2566-2568)gGg>gAg	p.G856E	CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000565740.1_Intron|CNTROB_ENST00000563694.1_Intron	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	836	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTGGATTATGGGGAGTGGAGT	0.522000													29	223					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18062259	18062259	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:18062259C>T	ENST00000205890.5	+	53	9442	c.9104C>T	c.(9103-9105)tCc>tTc	p.S3035F	MYO15A_ENST00000418233.3_Missense_Mutation_p.S299F	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3035	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCTGAAATCCAAGGAGCCT	0.557000													17	71					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325231	152325231	+	Silent	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:152325231A>T	ENST00000388718.5	-	3	5103	c.5031T>A	c.(5029-5031)gcT>gcA	p.A1677A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1677							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)			GTTGAGATCCAGCTTGACCAT	0.488000													8	1088					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75280027	75280027	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:75280027C>T	ENST00000524558.1	+	4	2200	c.765C>T	c.(763-765)atC>atT	p.I255I	SERPINH1_ENST00000525876.1_Silent_p.I38I|SERPINH1_ENST00000358171.3_Silent_p.I255I|SERPINH1_ENST00000533603.1_Silent_p.I255I|SERPINH1_ENST00000530284.1_Silent_p.I255I			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	255				I -> L (in Ref. 1; CAA43795).	regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					AGCTGCAAATCGTGGAGATGC	0.582000													35	109					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122866	39122866	+	Silent	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:39122866A>T	ENST00000355612.2	-	1	278	c.243T>A	c.(241-243)tcT>tcA	p.S81S	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	81	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGTCATCCAGAGAAAAACGGG	0.507000													6	670					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140374554	140374554	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:140374554A>G	ENST00000072869.4	+	2	1255	c.1077A>G	c.(1075-1077)caA>caG	p.Q359Q	ADCK2_ENST00000476491.1_Silent_p.Q359Q	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	359	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGATGGTCCAACAGGTGAGTT	0.448000													5	38					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420862	11420862	+	RNA	SNP	T	T	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:11420862T>G	ENST00000381842.3	-	0	358				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACTGGTTTCCTCCTTGTG	0.632000													10	1220					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648507	20648507	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20648507G>A	ENST00000219151.4	-	9	1315	c.105C>T	c.(103-105)acC>acT	p.T35T	ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000307493.4_Intron			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	399					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGGGTCAGCGGTGTTCATGC	0.488000													290	452					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83788105	83788105	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:83788105T>C	ENST00000432794.1	-	10	1216	c.1053A>G	c.(1051-1053)tcA>tcG	p.S351S	SEC31A_ENST00000348405.4_Silent_p.S351S|SEC31A_ENST00000326950.5_Silent_p.S351S|SEC31A_ENST00000508479.1_Silent_p.S351S|SEC31A_ENST00000311785.7_Silent_p.S351S|SEC31A_ENST00000264405.5_Silent_p.S123S|SEC31A_ENST00000505984.1_Silent_p.S351S|SEC31A_ENST00000355196.2_Silent_p.S351S|SEC31A_ENST00000513858.1_Silent_p.S351S|SEC31A_ENST00000443462.2_Silent_p.S346S|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505472.1_Silent_p.S351S|SEC31A_ENST00000500777.2_Silent_p.S351S|SEC31A_ENST00000448323.1_Silent_p.S351S|SEC31A_ENST00000508502.1_Silent_p.S351S|SEC31A_ENST00000509142.1_Silent_p.S351S|SEC31A_ENST00000395310.2_Silent_p.S351S			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	351	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCAAAAGATGATGAAAGCT	0.378000													40	88					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48166672	48166672	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:48166672T>A	ENST00000418331.2	+	14	3259	c.2907T>A	c.(2905-2907)gaT>gaA	p.D969E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	969					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGCCCCAGGATCCAGGTAGGG	0.532000													4	441					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94473208	94473208	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:94473208G>A	ENST00000370225.3	-	43	6073	c.5987C>T	c.(5986-5988)gCc>gTc	p.A1996V	ABCA4_ENST00000535881.1_Missense_Mutation_p.A115V|ABCA4_ENST00000536513.1_Missense_Mutation_p.A266V|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1996	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCTACGGTGGCATCCCCTGA	0.537000													4	202					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544426	55544426	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:55544426A>T	ENST00000436346.1	-	21	4503	c.3662T>A	c.(3661-3663)gTa>gAa	p.V1221E	AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.V1220E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1221E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1220E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1221					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCCTGTTCTACTTTGAGCAT	0.294000													3	27					0	0	1	0	0
TCEAL8	90843	broad.mit.edu	37	X	102508834	102508834	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:102508834T>C	ENST00000372685.3	-	3	310	c.74A>G	c.(73-75)gAg>gGg	p.E25G	TCEAL8_ENST00000360000.4_Missense_Mutation_p.E25G	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						TGGTACATCCTCCAAAGGGCG	0.478000													5	747					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site|C1S_ENST00000328916.3_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTCTCTGTTAGTTAATTGCA	0.418000													14	248					0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4112748	4112748	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:4112748C>A	ENST00000300737.4	+	12	2347	c.1778C>A	c.(1777-1779)gCc>gAc	p.A593D	STIM1_ENST00000527651.1_3'UTR|STIM1_ENST00000533977.1_Missense_Mutation_p.A420D	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	593					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CTGGACAAGGCCCACAGCCTG	0.622000													7	168					0.248553	0.248553	1	1	0
KLF12	11278	broad.mit.edu	37	13	74420129	74420129	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:74420129G>T	ENST00000377669.2	-	3	531	c.505C>A	c.(505-507)Cct>Act	p.P169T	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.P169T	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	169					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GGACTTGAAGGCGGTACGGGA	0.512000													14	71					7.05477e-17	7.74994e-17	1	1	0
DNAJC2	27000	broad.mit.edu	37	7	102968107	102968107	+	Silent	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:102968107A>T	ENST00000379263.3	-	4	676	c.426T>A	c.(424-426)acT>acA	p.T142T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Silent_p.T142T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	142	J.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TCTTACCTTTAGTTATGCAAG	0.333000													4	90					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15556749	15556749	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:15556749C>T	ENST00000424120.1	+	20	2795	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D	CC2D2A_ENST00000389652.5_Silent_p.D798D|CC2D2A_ENST00000503292.1_Silent_p.D847D|CC2D2A_ENST00000413206.1_Silent_p.D847D			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	847					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GACTGACAGACATGAAAAAAT	0.473000													18	103					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567000													5	201					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142010	54142010	+	Silent	SNP	G	G	A	rs77333617		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:54142010G>A	ENST00000265572.3	-	4	1287	c.990C>T	c.(988-990)taC>taT	p.Y330Y	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.Y330Y|OPRK1_ENST00000524278.1_Silent_p.Y241Y	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	330					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.Y330Y(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CAAGAAAGGCGTAGAGAATGG	0.517000													6	94					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75563696	75563696	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:75563696T>C	ENST00000299641.4	-	11	2523	c.1553A>G	c.(1552-1554)gAg>gGg	p.E518G	NDST2_ENST00000309979.6_Missense_Mutation_p.E641G	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	641	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GAACTGAATCTCCTCAAATGT	0.493000													32	128					0	0	1	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436146	113436146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:113436146C>T	ENST00000313341.3	-	2	812	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	162	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGTGAGTGCCCAGATGTAGT	0.711000													3	94					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18368682	18368682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:18368682C>A	ENST00000441493.2	-	16	2555	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	MICAL3_ENST00000429452.1_Nonsense_Mutation_p.E735*|MICAL3_ENST00000444520.1_Nonsense_Mutation_p.E735*|MICAL3_ENST00000383094.3_Nonsense_Mutation_p.E735*|MICAL3_ENST00000400561.2_Nonsense_Mutation_p.E735*|MICAL3_ENST00000585038.1_Nonsense_Mutation_p.E735*|MICAL3_ENST00000414725.2_Nonsense_Mutation_p.E735*|MICAL3_ENST00000207726.7_Nonsense_Mutation_p.E735*	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	735						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)		GGCGCATTCTCTTCAAATTTG	0.562000													57	295					3.25985e-27	3.63413e-27	1	1	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967381	31967381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:31967381A>T	ENST00000357886.4	-	9	1188	c.1035T>A	c.(1033-1035)taT>taA	p.Y345*	CDK5RAP1_ENST00000452723.3_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	345					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCTTGGTTTTATAGTTGGTGG	0.473000													7	222					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43868851	43868851	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:43868851G>A	ENST00000562955.1	+	2	31	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	SZT2_ENST00000310739.4_Missense_Mutation_p.E11K|SZT2_ENST00000372450.4_Missense_Mutation_p.E11K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	11						peroxisome		p.E11*(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCCCAGGTGGAAGAAGCTGG	0.448000													37	131					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68193567	68193567	+	Silent	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:68193567C>G	ENST00000294304.7	+	16	3655	c.3549C>G	c.(3547-3549)acC>acG	p.T1183T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1183	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGAAGACCACCGGGGACA	0.622000													45	121					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351771	132351771	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:132351771C>T	ENST00000310125.4	-	1	605	c.517G>A	c.(517-519)Gcc>Acc	p.A173T		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	173						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ATATTCATGGCCATCAGCACG	0.483000													3	87					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204943409	204943409	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:204943409C>T	ENST00000367172.4	+	13	1710	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I	NFASC_ENST00000367170.4_Missense_Mutation_p.T461I|NFASC_ENST00000338586.6_Missense_Mutation_p.T461I|NFASC_ENST00000360049.4_Missense_Mutation_p.T472I|NFASC_ENST00000539706.1_Missense_Mutation_p.T472I|NFASC_ENST00000338515.6_Missense_Mutation_p.T461I|NFASC_ENST00000513543.1_Missense_Mutation_p.T472I|NFASC_ENST00000367169.4_Missense_Mutation_p.T461I|NFASC_ENST00000339876.6_Missense_Mutation_p.T461I|NFASC_ENST00000404076.1_Missense_Mutation_p.T455I|NFASC_ENST00000401399.1_Missense_Mutation_p.T461I|NFASC_ENST00000403080.1_Missense_Mutation_p.T461I|NFASC_ENST00000404907.1_Missense_Mutation_p.T472I|NFASC_ENST00000367171.4_Missense_Mutation_p.T461I			O94856	NFASC_HUMAN	neurofascin	461	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			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)			CCCATCCCCACACTGCGATGG	0.577000													25	103					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394736	52394736	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:52394736T>C	ENST00000354957.3	-	5	937	c.653A>G	c.(652-654)aAg>aGg	p.K218R	ZNF649_ENST00000600738.1_Splice_Site_p.K218_splice|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	218					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)		GAGCCTGTACTTCTTGTAGAA	0.483000													7	227					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189597958	189597958	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:189597958G>A	ENST00000418709.2	+	11	1483	c.1455G>A	c.(1453-1455)gtG>gtA	p.V485V	TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000437221.1_Silent_p.V391V|TP63_ENST00000392460.3_Intron|TP63_ENST00000440651.2_Intron|TP63_ENST00000392461.3_Intron	NM_001114979.1	NP_001108451.1	Q9H3D4	P63_HUMAN	tumor protein p63	0					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCGATCAGTGTACCCATAGA	0.448000										HNSCC(45;0.13)			16	112					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28911917	28911917	+	Missense_Mutation	SNP	G	G	C	rs142091964		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:28911917G>C	ENST00000395503.4	+	15	1964	c.1780G>C	c.(1780-1782)Gtg>Ctg	p.V594L	ATP2A1_ENST00000357084.3_Missense_Mutation_p.V594L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V469L	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	594					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTGACATTCGTGGGTGTAGT	0.637000													4	378					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47266546	47266546	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:47266546C>G	ENST00000396220.1	-	24	3038	c.3016G>C	c.(3016-3018)Gac>Cac	p.D1006H	PREX1_ENST00000371941.3_Missense_Mutation_p.D1006H			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1006					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGCTCCGGGTCAAGGCCGATG	0.532000													17	114					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:3380510T>C	ENST00000354599.6	-	4	1616	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													3	219					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597726	41597726	+	Silent	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:41597726C>A	ENST00000330436.3	+	5	744	c.744C>A	c.(742-744)atC>atA	p.I248I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	248					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGGACTTCATCGCCAAGAAGG	0.557000													4	178					0.0293803	0.0298766	1	1	0
EVC	2121	broad.mit.edu	37	4	5733355	5733355	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:5733355C>T	ENST00000382674.2	+	4	772	c.588C>T	c.(586-588)aaC>aaT	p.N196N	EVC_ENST00000264956.6_Silent_p.N196N|EVC_ENST00000509451.1_Silent_p.N196N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	196					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TCCGGGTGAACGCCTTCCCTG	0.617000													16	73					0	0	1	0	0
TMEM70	54968	broad.mit.edu	37	8	74891082	74891082	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:74891082C>T	ENST00000312184.5	+	2	375	c.302C>T	c.(301-303)gCc>gTc	p.A101V	TMEM70_ENST00000517439.1_Missense_Mutation_p.A101V	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	101					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			GGCAATATGGCCCGAGCAGTG	0.343000													3	85					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:29019452A>T	ENST00000373816.1	+	5	474		c.e5-1		GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403000													7	137					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92430597	92430597	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:92430597G>C	ENST00000298047.6	+	3	3672	c.3655G>C	c.(3655-3657)Gaa>Caa	p.E1219Q	FAT3_ENST00000525166.1_Missense_Mutation_p.E1069Q|FAT3_ENST00000409404.2_Missense_Mutation_p.E1219Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1219	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAGCAGGCAGAACATTTTCT	0.358000										TCGA Ovarian(4;0.039)			5	210					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32433772	32433772	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:32433772T>A	ENST00000379923.1	+	17	2104	c.1898T>A	c.(1897-1899)cTg>cAg	p.L633Q	ACO1_ENST00000541043.1_Missense_Mutation_p.L534Q|ACO1_ENST00000309951.5_Missense_Mutation_p.L633Q	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	633					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCAGATAAGCTGTTTTTCTGG	0.343000													29	70					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733161	52733161	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:52733161T>A	ENST00000360540.5	-	7	1230	c.824A>T	c.(823-825)aAa>aTa	p.K275I	PCMTD1_ENST00000522514.1_Missense_Mutation_p.K275I|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.K199I	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	275						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTTCCTTTTGGGTGGAGC	0.403000													14	519					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35385805	35385805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:35385805A>T	ENST00000378495.3	+	22	2935	c.2713A>T	c.(2713-2715)Atg>Ttg	p.M905L	UNC13B_ENST00000396787.1_Missense_Mutation_p.M917L|UNC13B_ENST00000378496.4_Missense_Mutation_p.M905L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	905					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCTTCAGAATGAAGGTAAG	0.483000													28	64					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187088364	187088364	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:187088364G>A	ENST00000356371.5	+	13	2196	c.2196G>A	c.(2194-2196)ttG>ttA	p.L732L	FAM149A_ENST00000227065.4_Silent_p.L441L|FAM149A_ENST00000503432.1_Silent_p.L441L|FAM149A_ENST00000502970.1_Silent_p.L441L|FAM149A_ENST00000514153.1_Silent_p.L441L|FAM149A_ENST00000389354.5_Silent_p.L441L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	732										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AAAGTTCATTGACACAAATGG	0.338000													4	276					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955884	57955884	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:57955884C>T	ENST00000334181.4	+	3	1618	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H369H(1)|p.H456H(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCC	0.423000													5	434					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339227	124339227	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:124339227C>T	ENST00000368909.3	+	10	919	c.813C>T	c.(811-813)gtC>gtT	p.V271V	DMBT1_ENST00000330163.4_Silent_p.V271V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Silent_p.V271V|DMBT1_ENST00000368956.2_Silent_p.V271V|DMBT1_ENST00000344338.3_Silent_p.V271V|DMBT1_ENST00000368955.3_Silent_p.V271V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	271	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAATGTGGTCTGCAGGCAGC	0.612000													9	721					0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179047898	179047898	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:179047898A>G	ENST00000356731.5	-	3	1927	c.392T>C	c.(391-393)tTc>tCc	p.F131S	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.F131S|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.F131S|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.F131S|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.F131S|HNRNPH1_ENST00000524180.1_5'UTR			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	131	RRM 2.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CATACCTGAGAAGAACTGAAC	0.418000													3	79					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													4	271					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67666582	67666582	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:67666582T>A	ENST00000347310.5	+	5	823		c.e5+2		C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATGATATAGGTAAAGAATAAG	0.398000													5	250					0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125033141	125033141	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:125033141A>T	ENST00000344641.3	+	2	283		c.e2-1		MRRF_ENST00000373727.1_Splice_Site|MRRF_ENST00000297908.3_Splice_Site|MRRF_ENST00000546115.1_Splice_Site|MRRF_ENST00000373723.4_Splice_Site|MRRF_ENST00000373730.3_Splice_Site|MRRF_ENST00000373729.1_Intron|MRRF_ENST00000373728.1_Splice_Site	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor						ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TATTCTTTTTAGTGGATGTTT	0.393000													6	249					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16085886	16085886	+	Silent	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:16085886G>T	ENST00000281043.3	+	3	1359	c.1062G>T	c.(1060-1062)gcG>gcT	p.A354A		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	354					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGAGCGAGGCGTCCCCACGTC	0.582000			A		neuroblastoma								4	45					0.184627	0.185243	1	1	0
PLA2G10	8399	broad.mit.edu	37	16	14766506	14766506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:14766506G>T	ENST00000438167.3	-	4	895	c.456C>A	c.(454-456)taC>taA	p.Y152*		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	152					arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity										GGAACTGGGGGTAGAAGAGGT	0.468000													16	1293					1.08611e-07	1.16341e-07	1	1	0
PER1	5187	broad.mit.edu	37	17	8053196	8053196	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:8053196T>A	ENST00000317276.4	-	5	767		c.e5-2		PER1_ENST00000581082.1_Splice_Site|PER1_ENST00000354903.5_Splice_Site	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1						circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTGGTTGGCTGCAGAGTGGA	0.602000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					10	783					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323408	43323408	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:43323408A>G	ENST00000361428.2	-	4	1741	c.1664T>C	c.(1663-1665)cTt>cCt	p.L555P	ZNF318_ENST00000318149.3_Missense_Mutation_p.L555P	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	555					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGAGCTCCCAAGGGGCTTTGG	0.473000													4	588					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27475590	27475590	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:27475590C>T	ENST00000295736.5	-	6	638	c.568G>A	c.(568-570)Gta>Ata	p.V190I	SLC4A7_ENST00000428386.1_Missense_Mutation_p.V190I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000425128.2_Missense_Mutation_p.V195I|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V195I|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V199I|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V199I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V195I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V195I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	190						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTGTCTAATACCATATCTATT	0.333000													4	46					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84911069	84911069	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:84911069C>T	ENST00000262424.5	+	12	1406	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	CRISPLD2_ENST00000567845.1_Silent_p.T393T|CRISPLD2_ENST00000564567.1_Silent_p.T394T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	394	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTACACGACCGTTGCTCAGC	0.552000													4	408					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898913	175898913	+	Missense_Mutation	SNP	C	C	T	rs142711835	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:175898913C>T	ENST00000359240.3	+	5	2907	c.2237C>T	c.(2236-2238)aCg>aTg	p.T746M	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.T746M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T746M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T746M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	746	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.T746M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACGCCTTCCCAG	0.537000													7	690					0	0	1	0	0
TSSK3	81629	broad.mit.edu	37	1	32829664	32829664	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:32829664G>A	ENST00000373534.3	+	2	1119	c.614G>A	c.(613-615)tGt>tAt	p.C205Y	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	205	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				GTCATGCTCTGTGCCAGCCTA	0.567000													6	759					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053195	124053195	+	Silent	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:124053195C>G	ENST00000360013.3	+	9	1621	c.1494C>G	c.(1492-1494)gcC>gcG	p.A498A	KALRN_ENST00000460856.1_Silent_p.A498A|KALRN_ENST00000240874.3_Silent_p.A498A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	498					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGGCCACAGCCAACTACTCCA	0.607000													6	392					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y|C1S_ENST00000328916.3_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423000													4	274					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51667705	51667705	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:51667705T>A	ENST00000409535.1	+	7	1063	c.938T>A	c.(937-939)tTg>tAg	p.L313*	RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.L7*	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	313	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGGAAAACTTTGCAAGTGATC	0.512000													48	77					0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99907706	99907706	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:99907706C>G	ENST00000409448.1	-	6	643	c.327G>C	c.(325-327)atG>atC	p.M109I	LYG1_ENST00000308528.4_Missense_Mutation_p.M109I			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	109					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TTACCTGCACCATGCTAGTCC	0.498000													44	341					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249921	177249921	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:177249921C>T	ENST00000361539.4	+	8	1921	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		537						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAATGACATGCGGCTGGGCAG	0.557000													33	58					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97475200	97475200	+	Silent	SNP	T	T	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:97475200T>G	ENST00000377075.2	+	7	2372	c.2274T>G	c.(2272-2274)ctT>ctG	p.L758L	CNNM4_ENST00000540067.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	758					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						CCACAACTCTTCTCAACGAGC	0.622000													8	76					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68718631	68718631	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:68718631C>T	ENST00000264012.4	+	10	1872	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	CDH3_ENST00000429102.2_Missense_Mutation_p.P443L|CDH3_ENST00000581171.1_Missense_Mutation_p.P388L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	443	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTGTCCCACCCTCCAAAGTC	0.557000													6	213					0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40630546	40630546	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:40630546G>T	ENST00000343619.4	+	7	695	c.572G>T	c.(571-573)tGc>tTc	p.C191F	ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	191					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.C191F(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGCGGGTATGCCGGGGAAAT	0.532000													8	151					2.17888e-05	2.29315e-05	1	1	0
CCDC24	149473	broad.mit.edu	37	1	44461642	44461642	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:44461642T>A	ENST00000372318.3	+	9	905	c.734T>A	c.(733-735)cTc>cAc	p.L245H	SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	245										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACACAGGGCCTCAGACCCCCG	0.642000													28	118					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8990081	8990081	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:8990081G>A	ENST00000299698.7	+	8	954	c.774G>A	c.(772-774)gtG>gtA	p.V258V		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	102						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGGTATCTGTGTGTCAGAAGG	0.473000													12	431					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117663515	117663515	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:117663515C>T	ENST00000256649.4	-	1	835	c.309G>A	c.(307-309)ctG>ctA	p.L103L	TRIM45_ENST00000369461.3_Silent_p.L46L|TRIM45_ENST00000369464.3_Silent_p.L103L	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	103						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CACCCATGGGCAGGTCCACCT	0.557000													4	193					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857924	140857924	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:140857924G>A	ENST00000308177.3	+	1	2345	c.2241G>A	c.(2239-2241)gtG>gtA	p.V747V	PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_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)			CGGACGCCGTGCGGGGAGGCC	0.602000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	116					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240794	39240794	+	Silent	SNP	C	C	A	rs9894106		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:39240794C>A	ENST00000391417.4	+	1	336	c.336C>A	c.(334-336)ccC>ccA	p.P112P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.R111_C115delRPSCC(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gctgccgccccagctgctgcc	0.667000													6	4					0.00448238	0.00460477	1	1	0
WDR3	10885	broad.mit.edu	37	1	118497233	118497233	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:118497233G>A	ENST00000349139.4	+	23	2439	c.2392G>A	c.(2392-2394)Gct>Act	p.A798T	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	798						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CATCCTAATGGCTTATGGCAG	0.353000													4	154					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724623	30724623	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:30724623G>T	ENST00000361762.2	+	1	2587	c.1579G>T	c.(1579-1581)Gac>Tac	p.D527Y	PCDH7_ENST00000543491.1_Missense_Mutation_p.D527Y	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	527	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAAGGTGGGAGACACCAACGA	0.622000													4	36					1.23904e-05	1.31321e-05	1	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80199977	80199977	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:80199977T>C	ENST00000450142.2	-	13	2058	c.1792A>G	c.(1792-1794)Acg>Gcg	p.T598A	PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T598A|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T511A|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T598A	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	598	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GAAGAACCCGTTGTAATCTTT	0.453000													5	890					0	0	1	0	0
SNORD89	692205	broad.mit.edu	37	2	101889409	101889409	+	RNA	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:101889409A>G	ENST00000390981.1	-	0	102					NR_003070.1																						CTGAGGTCAGACTAGTGGTTC	0.443000													119	251					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114213643	114213643	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:114213643T>C	ENST00000357077.4	+	21	2402	c.2349T>C	c.(2347-2349)caT>caC	p.H783H	ANK2_ENST00000506722.1_Silent_p.H762H|ANK2_ENST00000394537.3_Silent_p.H783H|ANK2_ENST00000264366.6_Silent_p.H783H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	783					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCTCCAGCATGGGGCCAAGC	0.617000													25	37					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146684015	146684015	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:146684015G>A	ENST00000254090.4	-	5	964	c.576C>T	c.(574-576)ggC>ggT	p.G192G	FMO5_ENST00000369272.3_Silent_p.G192G|FMO5_ENST00000441068.2_Silent_p.G192G|FMO5_ENST00000465173.1_5'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	192						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AATTCCCAATGCCAATTATAA	0.423000													4	213					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31747808	31747808	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:31747808C>G	ENST00000357033.4	-	52	7806	c.7600G>C	c.(7600-7602)Gcc>Ccc	p.A2534P	DMD_ENST00000378707.3_Missense_Mutation_p.A74P|DMD_ENST00000343523.2_Missense_Mutation_p.A74P|DMD_ENST00000378677.2_Missense_Mutation_p.A2530P|DMD_ENST00000359836.1_Missense_Mutation_p.A74P|DMD_ENST00000474231.1_Missense_Mutation_p.A74P|DMD_ENST00000541735.1_Missense_Mutation_p.A74P	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2534					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAATTTTGGGCAGCGGTAATG	0.423000													19	148					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578322	2578322	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:2578322C>T	ENST00000302956.4	+	7	897	c.803C>T	c.(802-804)gCa>gTa	p.A268V	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.A268V|AMDHD2_ENST00000293971.6_Missense_Mutation_p.A268V			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	268					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGGATGATTGCAGATGGCACG	0.687000													10	33					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25239951	25239951	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:25239951G>T	ENST00000216962.4	+	2	432	c.322G>T	c.(322-324)Gcc>Tcc	p.A108S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	108					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	p.A108S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CCTTCAGAATGCCTGCGATGA	0.522000													10	201					2.80697e-09	3.06123e-09	1	1	0
CPED1	79974	broad.mit.edu	37	7	120906847	120906847	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:120906847A>C	ENST00000310396.5	+	20	3085	c.2618A>C	c.(2617-2619)cAc>cCc	p.H873P		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CAAATTATTCACAAAGTTTTG	0.353000													4	337					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835234	61835234	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:61835234G>T	ENST00000280772.1	-	37	5596	c.5405C>A	c.(5404-5406)aCa>aAa	p.T1802K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1802	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCCAAGGGATGTATAGAGTGC	0.443000													6	381					2.7689e-08	2.97656e-08	1	1	0
C15orf27	123591	broad.mit.edu	37	15	76430098	76430098	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													7	419					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155450216	155450216	+	Silent	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:155450216G>C	ENST00000368346.3	-	3	3084	c.2445C>G	c.(2443-2445)gtC>gtG	p.V815V	ASH1L_ENST00000392403.3_Silent_p.V815V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	815					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGTCACTAGAGACACACATAC	0.408000													66	180					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769354	176769354	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:176769354C>T	ENST00000430069.1	-	5	624	c.365G>A	c.(364-366)gGa>gAa	p.G122E	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.G122E			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	122					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTTTGCAGATCCTTGTTGGCT	0.443000													34	34					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120744304	120744304	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:120744304G>A	ENST00000378164.2	-	26	3758	c.3460C>T	c.(3460-3462)Cac>Tac	p.H1154Y		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1154	His-rich.				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTTCTTGTGCTCATGGTGA	0.458000													23	1285					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													6	31					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96503556	96503556	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:96503556C>T	ENST00000283109.3	-	8	1080	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	RIOK2_ENST00000508447.1_Missense_Mutation_p.D338N|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	338	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ACTTCTCCATCTGAAAATGAG	0.408000													87	260					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573749	136573749	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:136573749A>T	ENST00000446465.2	+	2	1075	c.447A>T	c.(445-447)ttA>ttT	p.L149F	RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.L149F|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	149	DUF6 1.					Golgi apparatus|integral to membrane											TATCTGTGTTAGTTGTGTGTT	0.403000													7	546					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24869990	24869990	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:24869990A>G	ENST00000347898.3	+	2	648	c.26A>G	c.(25-27)cAg>cGg	p.Q9R	SLC5A11_ENST00000545376.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000424767.2_Missense_Mutation_p.Q9R|SLC5A11_ENST00000568579.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000539472.1_Intron|SLC5A11_ENST00000567758.1_Missense_Mutation_p.Q9R|SLC5A11_ENST00000565769.1_Intron|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000449109.2_Intron	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	9					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGCAGCCCTCAGCCTCCACAG	0.557000													19	74					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95846903	95846903	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:95846903A>G	ENST00000398107.2	+	4	726	c.204A>G	c.(202-204)tcA>tcG	p.S68S	ZNF2_ENST00000340539.5_Silent_p.S110S|ZNF2_ENST00000453539.2_Silent_p.S123S|ZNF2_ENST00000425369.1_Silent_p.S30S|ZNF2_ENST00000295210.6_Silent_p.S72S	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	110	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CAGAAGGATCATTGAGGGAAT	0.448000													6	252					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58982200	58982200	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:58982200G>A	ENST00000536459.2	+	4	1050	c.341G>A	c.(340-342)gGt>gAt	p.G114D	ZNF324_ENST00000196482.3_Missense_Mutation_p.G114D			O75467	Z324A_HUMAN	zinc finger protein 324	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G114D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGTTGCCGGTGCCTGCCAC	0.567000													4	72					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	486						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383000													6	256					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572000													9	324					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179730582	179730582	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:179730582C>T	ENST00000420890.2	-	17	2753	c.2636G>A	c.(2635-2637)aGc>aAc	p.S879N	CCDC141_ENST00000295723.5_Missense_Mutation_p.S304N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	304							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCACTTCATGCTGTCCTCCTC	0.517000													53	1631					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40262810	40262810	+	Silent	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:40262810C>T	ENST00000251642.3	-	5	714	c.492G>A	c.(490-492)ctG>ctA	p.L164L		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	164	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTGAGACCCAGCACCTGGG	0.622000													183	103					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98228309	98228309	+	Silent	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:98228309T>C	ENST00000284049.3	-	14	2249	c.2100A>G	c.(2098-2100)aaA>aaG	p.K700K		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	700					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTCCACATCTTTCTTAACTC	0.403000													161	86					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263026	140263026	+	Silent	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:140263026G>A	ENST00000289272.2	+	1	1173	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P391P(4)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGACGCCGCATGTCCCCT	0.547000													4	341					0	0	1	0	0
IGLON5	402665	broad.mit.edu	37	19	51828699	51828699	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:51828699T>C	ENST00000270642.8	+	4	491	c.491T>C	c.(490-492)gTc>gCc	p.V164A		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	164	Ig-like C2-type 2.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						GAGCCCACGGTCACCTGGAGA	0.642000													3	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018166	9018166	+	Missense_Mutation	SNP	A	A	G	rs77435151	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:9018166A>G	ENST00000397910.4	-	25	37975	c.37772T>C	c.(37771-37773)cTt>cCt	p.L12591P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12593	SEA 4.				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						AGAGTACAGAAGGCCAACACT	0.532000													7	1730					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000515799.1_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													5	48					0	0	1	0	0
HIST2H2BA	337875	broad.mit.edu	37	1	120906203	120906203	+	RNA	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:120906203G>A	ENST00000430394.1	+	0	176					NR_027337.1																						CCCGACACCGGCATCTCGTCC	0.612000													5	600					0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141362998	141362998	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:141362998A>G	ENST00000394520.2	+	7	1426	c.1117A>G	c.(1117-1119)Aga>Gga	p.R373G	RNF14_ENST00000347642.3_Missense_Mutation_p.R373G|RNF14_ENST00000394515.3_Missense_Mutation_p.R197G|RNF14_ENST00000394514.2_Missense_Mutation_p.R247G|RNF14_ENST00000356143.1_Missense_Mutation_p.R373G|RNF14_ENST00000540015.1_Missense_Mutation_p.R70G|RNF14_ENST00000394519.1_Missense_Mutation_p.R373G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	373	Interaction with androgen receptor.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GGCTAATAAAAGACTTTTGGA	0.373000													8	51					0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134276798	134276798	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:134276798C>T	ENST00000414097.2	-	4	1064	c.197G>A	c.(196-198)gGc>gAc	p.G66D	NDRG1_ENST00000323851.7_Missense_Mutation_p.G66D|NDRG1_ENST00000354944.5_Missense_Mutation_p.G66D|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000522476.1_5'UTR|NDRG1_ENST00000537882.1_Intron	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	66					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACGGTTCATGCCGATGTCATG	0.577000			T	ERG	prostate								6	579					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124272467	124272467	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:124272467G>A	ENST00000409039.3	+	10	1380	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	452	Stem (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)		AGGGAAGATCGGTGGGAGTTT	0.582000													6	29					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672469	99672469	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:99672469C>T	ENST00000336292.6	+	5	4021	c.3901C>T	c.(3901-3903)Cca>Tca	p.P1301S	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1302	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAAGGGTTGCCAGGGAGCAG	0.537000													10	680					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144110	11144110	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:11144110G>A	ENST00000358026.2	+	26	3975	c.3691G>A	c.(3691-3693)Gcc>Acc	p.A1231T	SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1231T|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1231T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1231T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1231T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1231T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1231	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGTGATCCAGGCCGGCATGTT	0.632000			"""F, N, Mis"""		NSCLC								43	166					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32873458	32873458	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:32873458T>A	ENST00000311921.3	+	5	2638	c.2446T>A	c.(2446-2448)Tac>Aac	p.Y816N	ZNF507_ENST00000544431.1_Missense_Mutation_p.Y820N|ZNF507_ENST00000355898.5_Missense_Mutation_p.Y816N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAATTACAACTACGAACAAGT	0.428000													6	522					0	0	1	0	0
EN2	2020	broad.mit.edu	37	7	155255155	155255155	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:155255155C>T	ENST00000297375.4	+	2	1024	c.775C>T	c.(775-777)Ctc>Ttc	p.L259F		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	259						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGCAGAGGCTCAAGGCCGA	0.587000													4	46					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861245	38861245	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:38861245G>A	ENST00000409235.3	+	29	3408	c.3293G>A	c.(3292-3294)tGc>tAc	p.C1098Y	CATSPERG_ENST00000410018.1_Missense_Mutation_p.C1058Y|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1098					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTGAAGGGCTGCACGATGATC	0.542000													5	434					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136046479	136046479	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:136046479T>C	ENST00000471595.1	+	13	1321	c.1303T>C	c.(1303-1305)Tat>Cat	p.Y435H	PCCB_ENST00000490504.1_Missense_Mutation_p.Y378H|PCCB_ENST00000483687.1_Missense_Mutation_p.Y416H|PCCB_ENST00000462637.1_Missense_Mutation_p.Y412H|PCCB_ENST00000469217.1_Missense_Mutation_p.Y455H|PCCB_ENST00000466072.1_Missense_Mutation_p.Y455H|PCCB_ENST00000251654.4_Missense_Mutation_p.Y435H|PCCB_ENST00000482086.1_Missense_Mutation_p.Y319H|PCCB_ENST00000468777.1_Missense_Mutation_p.Y466H|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000478469.1_Intron			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	435	Carboxyltransferase.		Y -> C (in PA-2).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GTTTTAGGCCTATGGAGGTGC	0.493000													233	63					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935895	82935895	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:82935895A>T	ENST00000260047.6	+	6	1378		c.e6-1		ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site|ANKRD42_ENST00000393392.2_Splice_Site			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTCCTCTAGTTCACTTAG	0.333000													8	229					0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88189280	88189280	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:88189280A>T	ENST00000309495.5	+	1	1027	c.820A>T	c.(820-822)Aat>Tat	p.N274Y	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTTGCATTTTAATTGCAACGA	0.373000													5	156					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105829	42105829	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:42105829C>A	ENST00000457542.2	+	9	1116	c.830C>A	c.(829-831)gCc>gAc	p.A277D	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A283D|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	283										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCACAGTGGCCCACTGCATC	0.582000													15	233					7.41877e-09	8.06155e-09	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80764348	80764348	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:80764348A>T	ENST00000458043.2	+	55	6594		c.e55-1		OTOGL_ENST00000547103.1_Splice_Site|OTOGL_ENST00000546620.1_Splice_Site	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGATTTTTAGGTAGGGAGT	0.308000													4	153					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530941	80530941	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:80530941C>G	ENST00000295057.3	-	2	660	c.4G>C	c.(4-6)Gat>Cat	p.D2H	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D2H|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	2						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGCAGGAAATCCATTAGCGAG	0.562000										HNSCC(69;0.2)			8	32					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151433	73151433	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:73151433G>A	ENST00000222800.3	-	5	710	c.641C>T	c.(640-642)gCc>gTc	p.A214V	ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Missense_Mutation_p.A157V|ABHD11_ENST00000437775.2_Missense_Mutation_p.A207V	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	214							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGCCGCACGGCCATGTCCTG	0.607000													4	189					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150459930	150459930	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:150459930G>A	ENST00000369064.3	+	1	38	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	TARS2_ENST00000438568.2_Missense_Mutation_p.A2T|TARS2_ENST00000606933.1_Missense_Mutation_p.A2T|TARS2_ENST00000369054.2_Missense_Mutation_p.A2T	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	2					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			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)	AAGGAACATGGCCCTGTATCA	0.547000													59	134					0	0	1	0	0
C4orf51	646603	broad.mit.edu	37	4	146617719	146617719	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:146617719T>C	ENST00000438731.1	+	2	242	c.242T>C	c.(241-243)tTg>tCg	p.L81S		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	81										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AGGATGTCATTGACAAACAGT	0.418000													4	179					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													4	51					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78470926	78470926	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:78470926A>T	ENST00000370763.5	+	1	389	c.132A>T	c.(130-132)aaA>aaT	p.K44N	DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	44	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CAGAGGAAAAATTTAAAGAGG	0.373000													22	51					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47165938	47165938	+	Splice_Site	SNP	T	T	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:47165938T>A	ENST00000562435.1	-	2	419		c.e2-2		NETO2_ENST00000303155.5_Splice_Site	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2							integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTAACAACACTAGAGAAATAA	0.313000										HNSCC(25;0.065)			12	476					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154574475	154574475	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:154574475C>T	ENST00000368474.4	-	2	842	c.643G>A	c.(643-645)Ggt>Agt	p.G215S	ADAR_ENST00000292205.5_Missense_Mutation_p.G258S|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	215					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGCTATGACCGTCTGGTCTT	0.522000													4	277					0	0	1	0	0
TMEM189	387521	broad.mit.edu	37	20	48699307	48699307	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:48699307A>T	ENST00000557021.1	-	8	1271	c.1111T>A	c.(1111-1113)Taa>Aaa	p.*371K	UBE2V1_ENST00000371677.3_Nonstop_Mutation_p.*171K|TMEM189-UBE2V1_ENST00000341698.2_Nonstop_Mutation_p.*371K|UBE2V1_ENST00000420027.2_Nonstop_Mutation_p.*104K|UBE2V1_ENST00000340309.3_Nonstop_Mutation_p.*171K|UBE2V1_ENST00000371657.5_Nonstop_Mutation_p.*106K|UBE2V1_ENST00000371674.3_Nonstop_Mutation_p.*148K|UBE2V1_ENST00000415862.2_Nonstop_Mutation_p.*104K|UBE2V1_ENST00000396059.3_5'UTR	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			CTTTTTGATTAATTGCTGTAA	0.413000													5	178					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63877726	63877726	+	Silent	SNP	A	A	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:63877726A>G	ENST00000371108.4	+	9	1115	c.810A>G	c.(808-810)ttA>ttG	p.L270L	ALG6_ENST00000263440.4_Silent_p.L272L	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	270					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGTGGATTATTTGAGGCAT	0.438000													3	303					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10238756	10238758	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:10238756_10238758delGGG	ENST00000377157.3	+	25	3906_3908	c.2845_2847delGGG	c.(2845-2847)del	p.G949del	UBE4B_ENST00000343090.6_In_Frame_Del_p.G1194del|UBE4B_ENST00000253251.8_In_Frame_Del_p.G1065del	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1194					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.G1065G(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCGGAAGGCAGGGATCAAATCCA	0.453													24	144	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16901653	16901654	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:16901653_16901654insG	ENST00000430580.2	-	20	3077_3078	c.2192_splice	c.e20+1	p.PG730_splice	NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	730	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGACG	0.431													7	2019	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	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"""								18	441	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													12	581	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													13	192	---	---	---	---					
MAP7D1	55700	broad.mit.edu	37	1	36636625	36636626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:36636625_36636626insC	ENST00000316156.4	+	2	553_554	c.100_101insC	c.(100-102)cccfs	p.P34fs	MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P34fs|MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P34fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	34	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)				AGGTGACCCTTCCCCCCCACCA	0.594													8	133	---	---	---	---					
PABPC4	8761	broad.mit.edu	37	1	40028015	40028016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:40028015_40028016insG	ENST00000372857.3	-	13	2485_2486	c.1693_1694insC	c.(1693-1695)ggafs	p.G565fs	PABPC4_ENST00000372856.3_Frame_Shift_Ins_p.G552fs|PABPC4_ENST00000372858.3_Frame_Shift_Ins_p.G581fs|PABPC4_ENST00000372862.3_Frame_Shift_Ins_p.G536fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	565	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCTGTTCCTGGGGGGGTGCT	0.604													11	202	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													13	441	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													14	1854	---	---	---	---					
MAST2	23139	broad.mit.edu	37	1	46494558	46494559	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:46494558_46494559insT	ENST00000361297.2	+	18	2454_2455	c.2171_2172insT	c.(2170-2172)cttfs	p.L724fs	MAST2_ENST00000372009.2_Frame_Shift_Ins_p.L654fs|MAST2_ENST00000372008.1_Frame_Shift_Ins_p.L609fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCTGCGTCCCTTTTTTTGGAG	0.550													7	567	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													9	1122	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													33	606	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	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													18	440	---	---	---	---					
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													11	471	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs			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													11	211	---	---	---	---					
SH3GLB1	51100	broad.mit.edu	37	1	87208858	87208858	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:87208858delG	ENST00000370558.4	+	9	1362	c.1038delG	c.(1036-1038)atfs	p.M346fs	SH3GLB1_ENST00000535010.1_Frame_Shift_Del_p.M246fs|SH3GLB1_ENST00000482504.1_Frame_Shift_Del_p.M367fs	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	346	SH3.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ACTGGCTAATGGGGGAAAGGG	0.388													7	527	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1518)cccfs	p.P506fs	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_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													9	173	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													33	732	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	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)		GAGGGGCTGATCCCCCCCTACG	0.559													10	260	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													8	411	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													8	810	---	---	---	---					
NBPF12	149013	broad.mit.edu	37	1	146399620	146399621	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:146399620_146399621insC	ENST00000442909.2	+	8	1395_1396	c.559_560insC	c.(559-561)cccfs	p.P187fs	NBPF12_ENST00000309471.8_Frame_Shift_Ins_p.P112fs|NBPF12_ENST00000446760.2_Frame_Shift_Ins_p.P187fs					neuroblastoma breakpoint family, member 12											ovary(2)	2						GGAATCATCTGCCCCCAGGTAA	0.416													7	1004	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_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													11	358	---	---	---	---					
SPRR2G	6706	broad.mit.edu	37	1	153122497	153122498	+	Frame_Shift_Ins	INS	-	-	G	rs141920106	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:153122497_153122498insG	ENST00000368748.4	-	2	127_128	c.89_90insC	c.(88-90)caafs	p.Q30fs		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	30	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGACA	0.609													7	485	---	---	---	---					
S100A2	6273	broad.mit.edu	37	1	153536226	153536226	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:153536226delA	ENST00000368708.3	-	2	497	c.125delT	c.(124-126)cgfs	p.L42fs	S100A2_ENST00000368710.1_Frame_Shift_Del_p.L42fs|S100A2_ENST00000497140.1_Frame_Shift_Del_p.L9fs|S100A2_ENST00000368707.4_Frame_Shift_Del_p.L42fs|S100A2_ENST00000487430.2_Frame_Shift_Del_p.L42fs|S100A2_ENST00000368709.1_Frame_Shift_Del_p.L42fs	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	43	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGCTGGGCAGCTCCTTGTG	0.582													8	175	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													12	1505	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:156708444_156708445insG	ENST00000361531.2	-	2	188_189	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000368211.4_Frame_Shift_Ins_p.L18fs			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													12	303	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)actfs	p.T639fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGGAGTACCCCCCGGGGT	0.673													18	691	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													7	567	---	---	---	---					
KCNJ10	3766	broad.mit.edu	37	1	160012017	160012018	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160012017_160012018insG	ENST00000368089.3	-	2	531_532	c.305_306insC	c.(304-306)cgcfs	p.R102fs	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	102						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGGTTGGCCGGGGGGTCCAG	0.584													10	659	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(283-288)ttggggfs	p.LG95fs	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604													8	711	---	---	---	---					
CASQ1	844	broad.mit.edu	37	1	160160760	160160761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:160160760_160160761insC	ENST00000368079.3	+	1	476_477	c.201_202insC	c.(199-204)gaccccfs	p.DP67fs	CASQ1_ENST00000368078.3_Frame_Shift_Ins_p.DP73fs	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	73						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTACCATGAACCCCCCGAGGA	0.520													7	205	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													11	242	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs			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													10	428	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													9	528	---	---	---	---					
ABL2	27	broad.mit.edu	37	1	179078403	179078404	+	Frame_Shift_Ins	INS	-	-	G	rs138240636	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:179078403_179078404insG	ENST00000502732.1	-	12	2201_2202	c.1998_1999insC	c.(1996-2001)ccaacgfs	p.T667fs	ABL2_ENST00000511413.1_Frame_Shift_Ins_p.T667fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.T646fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.T631fs|ABL2_ENST00000507173.1_Frame_Shift_Ins_p.T646fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.T631fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.T652fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.T652fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	667					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTGCTGCGTTTGGGGGGTGTAG	0.505			T	ETV6	AML								15	495	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													15	474	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|IPO9-AS1_ENST00000413035.1_RNA	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													11	362	---	---	---	---					
KLHL12	59349	broad.mit.edu	37	1	202862507	202862508	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:202862507_202862508insC	ENST00000367261.3	-	11	1657_1658	c.1439_1440insG	c.(1438-1440)gttfs	p.V480fs	KLHL12_ENST00000367259.1_Intron|KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.V518fs	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	480	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TACCATCAAATCCCCCCACCAC	0.455													7	752	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													8	233	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													10	658	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													9	205	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													24	567	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													15	913	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													8	547	---	---	---	---					
HHAT	55733	broad.mit.edu	37	1	210796965	210796966	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:210796965_210796966insG	ENST00000367010.1	+	11	1568_1569	c.1341_1342insG	c.(1339-1344)ctggggfs	p.LG447fs	HHAT_ENST00000541565.1_Frame_Shift_Ins_p.LG310fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.LG382fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.LG402fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.LG447fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.LG137fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.LG448fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.LG384fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	447					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	p.G448W(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGGTATTTCTTGGGGGCAATGA	0.490													10	1030	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(391-396)aaccccfs	p.NP131fs	EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	131					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624													8	253	---	---	---	---					
WNT9A	7483	broad.mit.edu	37	1	228111953	228111954	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:228111953_228111954insC	ENST00000272164.5	-	3	510_511	c.500_501insG	c.(499-501)gtgfs	p.V167fs	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	167					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.G167fs*38(1)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACTG	0.629													7	128	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													8	287	---	---	---	---					
OR14I1	401994	broad.mit.edu	37	1	248844881	248844882	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr1:248844881_248844882insG	ENST00000342623.3	-	1	747_748	c.724_725insC	c.(724-726)gctfs	p.A242fs		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACAATGAGCTGGGGGGAGCAG	0.465													7	213	---	---	---	---					
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-63)gggfs	p.G21fs	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535													11	553	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)cgtfs	p.R778fs	ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGCACTGGGGGGGTTTG	0.554													8	264	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													7	519	---	---	---	---					
MSH6	2956	broad.mit.edu	37	2	48030796	48030797	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:48030796_48030797insG	ENST00000234420.4	+	5	3562_3563	c.3410_3411insG	c.(3409-3411)aggfs	p.R1137fs	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1137					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCAAATATGGGGGGCAAGT	0.376			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	870	---	---	---	---					
ATP6V1B1	525	broad.mit.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1149)tccfs	p.S383fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.S366fs|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	206	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71839796	71839797	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:71839796_71839797insC	ENST00000258104.3	+	39	4470_4471	c.4193_4194insC	c.(4192-4194)tccfs	p.S1398fs	DYSF_ENST00000409744.1_Frame_Shift_Ins_p.S1385fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.S1398fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.S1429fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.S1430fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000409762.1_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.S1415fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1398						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGCTCTACTGCCCCCCCATCA	0.619													8	96	---	---	---	---					
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													13	1328	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1002)cggfs	p.R334fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs	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	716	---	---	---	---					
VWA3B	200403	broad.mit.edu	37	2	98914463	98914464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:98914463_98914464insG	ENST00000477737.1	+	24	3455_3456	c.3251_3252insG	c.(3250-3252)gggfs	p.G1084fs	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1084										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCACGCCTGTGGGGGGCGCCA	0.584													12	501	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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	561	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102644748	102644749	+	Frame_Shift_Ins	INS	-	-	G	rs145225100		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:102644748_102644749insG	ENST00000332549.3	+	9	1320_1321	c.1091_1092insG	c.(1090-1092)tggfs	p.W364fs	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.W364fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	364					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)	TTCTTGGTTTTGGGGGGAATAT	0.515													7	327	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													16	413	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:128707524_128707525insG	ENST00000357702.5	-	18	2924_2925	c.2793_2794insC	c.(2791-2796)ccttacfs	p.Y932fs	SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	897	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCAAAGTAATGGGGGGTCTTG	0.460													8	998	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													8	359	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_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													11	310	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													15	400	---	---	---	---					
HOXD11	3237	broad.mit.edu	37	2	176973637	176973638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:176973637_176973638insC	ENST00000249504.5	+	2	854_855	c.784_785insC	c.(784-786)cccfs	p.P262fs	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTTGCAGTTGCCCCCCAGCGG	0.619			T	NUP98	AML								7	363	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_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													16	348	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	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													19	561	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:202588159_202588160insC	ENST00000264276.6	-	22	3889_3890	c.3517_3518insG	c.(3517-3519)aaafs	p.K1173fs	ALS2_ENST00000457679.2_Frame_Shift_Ins_p.K485fs	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1173					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATATACTTTTCCCCCCTGCAC	0.406													7	400	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:203621968_203621969insC	ENST00000303116.6	+	6	1147_1148	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs	FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	379										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485													10	253	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594													9	279	---	---	---	---					
PTPRN	5798	broad.mit.edu	37	2	220168477	220168478	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:220168477_220168478insG	ENST00000295718.2	-	4	596_597	c.356_357insC	c.(355-357)cgafs	p.R119fs	PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	119					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GACGGGGCTCTGGGGGGCGAAG	0.550													7	411	---	---	---	---					
TRIP12	9320	broad.mit.edu	37	2	230724115	230724116	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:230724115_230724116insT	ENST00000283943.5	-	3	451_452	c.273_274insA	c.(271-276)aacaaafs	p.NK91fs	TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.NK133fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.NK133fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGTGCTTTTGGTTTTTTTGCAG	0.436													7	322	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													19	476	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													20	301	---	---	---	---					
IP6K2	51447	broad.mit.edu	37	3	48732640	48732641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:48732640_48732641insC	ENST00000431721.2	-	3	486_487	c.249_250insG	c.(247-252)ggactcfs	p.L84fs	IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.L88fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.L87fs|IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.L83fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000328631.5_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.L29fs	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	29					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACGCATGAGTGCCCCCCGACCT	0.619													8	179	---	---	---	---					
RBM6	10180	broad.mit.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)gggfs	p.G96fs	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_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													10	136	---	---	---	---					
ABHD14B	84836	broad.mit.edu	37	3	52003893	52003894	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:52003893_52003894delGA	ENST00000461108.1	-	3	602_603	c.518_519delTC	c.(517-519)tfs	p.F173fs	RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_Intron|ABHD14B_ENST00000395008.2_Intron|ABHD14B_ENST00000483233.1_Intron|ABHD14B_ENST00000525795.1_Intron|ABHD14B_ENST00000361143.5_Intron|ABHD14B_ENST00000315877.10_Intron			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	0						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		CCCAGATGAGGAAAGCCCAGGG	0.554													20	18	---	---	---	---					
CPOX	1371	broad.mit.edu	37	3	98304318	98304319	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:98304318_98304319insG	ENST00000264193.2	-	5	1356_1357	c.1138_1139insC	c.(1138-1140)ggafs	p.G380fs		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	380						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGCTTCTCCTGGGGGGTGAAT	0.500													9	618	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118623579	118623580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:118623579_118623580insA	ENST00000354673.2	-	8	1146_1147	c.766_767insT	c.(766-768)catfs	p.H256fs	IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.H256fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.H232fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.H257fs|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.H233fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	257					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.C256fs*17(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCAATGCAAAAAATGATA	0.347													7	330	---	---	---	---					
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:123368043_123368044insG	ENST00000360772.3	-	26	4667		c.e26-2		MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													21	204	---	---	---	---					
TM4SF4	7104	broad.mit.edu	37	3	149192693	149192694	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:149192693_149192694insG	ENST00000305354.4	+	1	933_934	c.29_30insG	c.(28-30)cggfs	p.R10fs		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	10						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCAGATGCCTGGGGGGGACCC	0.535													7	259	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													9	456	---	---	---	---					
HTR3E	285242	broad.mit.edu	37	3	183823745	183823746	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:183823745_183823746insC	ENST00000415389.2	+	7	1379_1380	c.913_914insC	c.(913-915)cccfs	p.P305fs	HTR3E_ENST00000425359.2_Frame_Shift_Ins_p.P290fs|HTR3E_ENST00000440596.2_Frame_Shift_Ins_p.P331fs|HTR3E_ENST00000436361.2_Frame_Shift_Ins_p.P305fs|HTR3E_ENST00000335304.2_Frame_Shift_Ins_p.P320fs	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACCAGTGGCACCCCCCTCATC	0.540													8	790	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195397992	195397993	+	RNA	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr3:195397992_195397993insT	ENST00000445430.1	+	0	919																											TAAATGTGTGGTTTTTTGCAGG	0.391													7	817	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													8	656	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													9	730	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				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)		GCCTCTCGTCTGGGGGGCATCC	0.599													8	469	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													12	654	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114278388	114278389	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:114278388_114278389insA	ENST00000357077.4	+	38	8667_8668	c.8614_8615insA	c.(8614-8616)aaafs	p.K2872fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.K2839fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2839					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCTATTCAAAAAACAGAG	0.381													7	411	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggtggfs	p.W668fs	FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCCCCACTCCCCCCACTCT	0.485			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								7	236	---	---	---	---					
FGG	2266	broad.mit.edu	37	4	155526058	155526059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr4:155526058_155526059insC	ENST00000404648.3	-	9	1528_1529	c.1289_1290insG	c.(1288-1290)ggcfs	p.G430fs	FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000405164.1_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													7	571	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)ccafs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	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)					TGATGAGGTGAGGGGGGCGGCC	0.530									Kartagener syndrome				7	548	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	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													10	1124	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		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)				CCCTCCTCGTTGGGGGGCAGGA	0.500													8	565	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													12	272	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													13	287	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													12	226	---	---	---	---					
HAPLN1	1404	broad.mit.edu	37	5	82948433	82948434	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:82948433_82948434insT	ENST00000274341.4	-	3	1160_1161	c.310_311insA	c.(310-312)ctafs	p.L104fs	HAPLN1_ENST00000514416.1_Frame_Shift_Ins_p.L104fs	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	104	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.T104fs*8(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCCTCCATAGGTTTTTTTGTGG	0.441													7	363	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													15	330	---	---	---	---					
FNIP1	96459	broad.mit.edu	37	5	131007940	131007941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:131007940_131007941insT	ENST00000307968.7	-	13	2111_2112	c.2112_2113insA	c.(2110-2115)aactccfs	p.NS704fs	FNIP1_ENST00000510461.1_Frame_Shift_Ins_p.NS732fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.NS687fs	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTATCTGGAGGTTTTTTTTCCA	0.441													9	677	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	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													13	947	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					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						GGTCAGTGGGTGGGGGGCTCAC	0.564													8	906	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													17	403	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(907-912)ttggggfs	p.LG303fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569													12	649	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													7	315	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)ccaattfs	p.I2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505													8	288	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													9	302	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564													12	360	---	---	---	---					
ADAMTS2	9509	broad.mit.edu	37	5	178541085	178541086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr5:178541085_178541086insG	ENST00000251582.7	-	22	3519_3520	c.3418_3419insC	c.(3418-3420)ggafs	p.G1140fs		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1140					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGGACCTCCAGGGGGGTGCTT	0.569													9	427	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_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													9	278	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						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)			TCCTGCTACTGCCCCCCAAAAA	0.584													7	211	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													14	237	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_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													8	230	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													7	246	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													12	242	---	---	---	---					
HCG17	414778	broad.mit.edu	37	6	30230128	30230129	+	RNA	INS	-	-	G	rs2523745	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:30230128_30230129insG	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							AGGTGAGACATGGGGGGGCCTG	0.510													18	356	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													7	239	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					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)	TGTACATTTTTGGGGGGAGAGA	0.441													8	468	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron	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													13	315	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													8	271	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													10	894	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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				20	379	---	---	---	---					
BRPF3	27154	broad.mit.edu	37	6	36196737	36196738	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:36196737_36196738insC	ENST00000357641.6	+	12	3591_3592	c.3338_3339insC	c.(3337-3339)gccfs	p.A1113fs	BRPF3_ENST00000534400.1_Frame_Shift_Ins_p.CP1080fs|BRPF3_ENST00000443324.2_Frame_Shift_Ins_p.A779fs|BRPF3_ENST00000534694.1_Frame_Shift_Ins_p.A779fs|BRPF3_ENST00000543502.1_Frame_Shift_Ins_p.A843fs|BRPF3_ENST00000339717.7_Frame_Shift_Ins_p.A843fs	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1113	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCCATCCCTGTCCCCCCGCTGG	0.584													7	300	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42237162	42237163	+	Frame_Shift_Ins	INS	-	-	G	rs140151920	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:42237162_42237163insG	ENST00000541110.1	-	5	734_735	c.166_167insC	c.(166-168)cttfs	p.L56fs	TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.L56fs|TRERF1_ENST00000372922.4_Frame_Shift_Ins_p.L56fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.L56fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.L56fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	56					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGAGGGAAGTGGGGGGAGATT	0.589													7	164	---	---	---	---					
TTBK1	84630	broad.mit.edu	37	6	43227329	43227330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:43227329_43227330insC	ENST00000259750.4	+	12	1392_1393	c.1309_1310insC	c.(1309-1311)cccfs	p.P437fs	TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.P386fs	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	437						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGTGCGTGCCCCCCCAGAC	0.673													4	8	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													8	919	---	---	---	---					
RFX6	222546	broad.mit.edu	37	6	117250016	117250017	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:117250016_117250017insC	ENST00000332958.2	+	18	2509_2510	c.2493_2494insC	c.(2491-2496)ctccccfs	p.LP831fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	831					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCGTTCACTGCCCCCCTACAG	0.455													7	400	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													11	249	---	---	---	---					
HECA	51696	broad.mit.edu	37	6	139488146	139488147	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:139488146_139488147insG	ENST00000367658.2	+	2	1282_1283	c.997_998insG	c.(997-999)gggfs	p.G333fs	RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	333					respiratory tube development			p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACAC	0.589													7	181	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													9	189	---	---	---	---					
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2755-2760)gaaaaafs	p.EK919fs		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	919	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.480													9	229	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)cfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													7	578	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													13	208	---	---	---	---					
CARD11	84433	broad.mit.edu	37	7	2968322	2968323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:2968322_2968323insG	ENST00000396946.4	-	13	2066_2067	c.1663_1664insC	c.(1663-1665)gagfs	p.E555fs		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	555					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL								7	109	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	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													9	389	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													14	603	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98550874	98550875	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:98550874_98550875insC	ENST00000359863.4	+	39	5736_5737	c.5527_5528insC	c.(5527-5529)cccfs	p.P1843fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P1825fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P1824fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1843					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.A1843T(1)|p.A1825T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGGAGCACGCCCCCCACCAC	0.644													11	367	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													14	189	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													9	1730	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142479788	142479789	+	RNA	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr7:142479788_142479789insA	ENST00000603901.1	+	0	40					NR_001296.3																						AGAGCTCCCTCCCTTGCCTAGC	0.550													8	110	---	---	---	---					
NRG1	3084	broad.mit.edu	37	8	32614020	32614021	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:32614020_32614021insC	ENST00000338921.4	+	10	1444_1445	c.927_928insC	c.(925-930)ccccccfs	p.PP309fs	NRG1_ENST00000287840.5_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000539990.1_Frame_Shift_Ins_p.PP144fs|NRG1_ENST00000356819.4_Frame_Shift_Ins_p.PP306fs|NRG1_ENST00000287842.3_Frame_Shift_Ins_p.PP298fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Frame_Shift_Ins_p.PP251fs|NRG1_ENST00000523079.1_Frame_Shift_Ins_p.PP298fs|NRG1_ENST00000521670.1_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000405005.2_Frame_Shift_Ins_p.PP301fs|NRG1_ENST00000287845.5_Frame_Shift_Ins_p.PP272fs			Q02297	NRG1_HUMAN	neuregulin 1	301					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATCCTAACCCACCCCCCGAGAA	0.495													8	266	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													12	343	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													8	230	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													9	119	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													11	501	---	---	---	---					
SPAG1	6674	broad.mit.edu	37	8	101252794	101252795	+	Frame_Shift_Del	DEL	CT	CT	-	rs4734455		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:101252794_101252795delCT	ENST00000388798.2	+	18	2635_2636	c.2444_2445delCT	c.(2443-2445)gfs	p.A815fs	SPAG1_ENST00000251809.3_Frame_Shift_Del_p.A815fs	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	815					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATTATAAATGCTCTCAGTACCA	0.426													45	59	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141554344	141554345	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr8:141554344_141554345insG	ENST00000220592.5	-	14	1918_1919	c.1806_1807insC	c.(1804-1809)ccccggfs	p.R603fs	AGO2_ENST00000519980.1_Frame_Shift_Ins_p.R603fs	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CCATCCCCGGCGGGGGGGTGAG	0.644													14	362	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94519744	94519745	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:94519744_94519745insG	ENST00000375708.3	-	3	470_471	c.272_273insC	c.(271-273)caafs	p.Q91fs	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	91	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACCGCACGTTAGGGGGTGGGTT	0.540													8	871	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													17	236	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs	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													12	444	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													13	586	---	---	---	---					
LARP4B	23185	broad.mit.edu	37	10	910158	910159	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:910158_910159insC	ENST00000316157.3	-	3	233_234	c.193_194insG	c.(193-195)tccfs	p.S65fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	65							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAACACAGGAGCCCCCCACACT	0.520													14	404	---	---	---	---					
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:13325834_13325835insC	ENST00000396920.3	-	7	1036_1037	c.632_633insG	c.(631-633)ggtfs	p.G211fs	PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465													12	795	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								8	339	---	---	---	---					
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)cgafs	p.R314fs	PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs|PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584													7	147	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:24832466_24832467insC	ENST00000376451.2	+	14	3576_3577	c.3316_3317insC	c.(3316-3318)cccfs	p.P1106fs	KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1423					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAAGAGATGACCCCCCGACAA	0.495													7	379	---	---	---	---					
MKX	283078	broad.mit.edu	37	10	28023574	28023575	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:28023574_28023575insG	ENST00000375790.5	-	5	1080_1081	c.648_649insC	c.(646-651)ccaatafs	p.I217fs	MKX_ENST00000419761.1_Frame_Shift_Ins_p.I217fs			Q8IYA7	MKX_HUMAN	mohawk homeobox	217					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P216P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTCTTGTATTTGGGGGGTGCCA	0.485													7	346	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													17	1006	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	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													33	747	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													10	172	---	---	---	---					
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1716)cccfs	p.P572fs	CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.510													8	741	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													10	553	---	---	---	---					
HOGA1	112817	broad.mit.edu	37	10	99361620	99361621	+	Frame_Shift_Ins	INS	-	-	G	rs61731946	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:99361620_99361621insG	ENST00000370646.4	+	6	1068_1069	c.707_708insG	c.(706-708)gggfs	p.G236fs	PI4K2A_ENST00000370649.3_Frame_Shift_Ins_p.G73fs|HOGA1_ENST00000370647.4_Frame_Shift_Ins_p.G73fs|PI4K2A_ENST00000555577.1_Frame_Shift_Ins_p.G73fs	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GCAGGAGCTGTGGGGGGCGTCT	0.634													7	238	---	---	---	---					
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(751-756)gtggggfs	p.VG251fs	ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	251					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599													8	392	---	---	---	---					
SFRP5	6425	broad.mit.edu	37	10	99527516	99527518	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:99527516_99527518delGCT	ENST00000266066.3	-	3	825_827	c.707_709delAGC	c.(706-711)agc>a	p.KR236del		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	236	NTR.				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		GTGTCCTTGCGCTTCAGGGGGCC	0.606													15	57	---	---	---	---					
PPRC1	23082	broad.mit.edu	37	10	103908247	103908248	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:103908247_103908248insC	ENST00000278070.2	+	10	4558_4559	c.4519_4520insC	c.(4519-4521)cccfs	p.P1507fs	PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P474fs|PPRC1_ENST00000489648.1_3'UTR|PPRC1_ENST00000413464.2_Frame_Shift_Ins_p.P1243fs	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1507	Arg-rich.|Ser-rich.				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)		ACGATCCCCATCCCCCCGCCGG	0.554													10	409	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													11	206	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	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													17	1165	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs143767864	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)gagfs	p.E235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589													12	212	---	---	---	---					
CYB5R2	51700	broad.mit.edu	37	11	7689747	7689748	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:7689747_7689748insT	ENST00000533558.1	-	6	989_990	c.433_434insA	c.(433-435)actfs	p.T145fs	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.T145fs			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	145					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCGGCCAGTGTTTTTTTAGGC	0.520													8	415	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													12	668	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													7	1369	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs	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													21	425	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													12	668	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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)					8	176	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													14	265	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													9	110	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:70194406_70194407insC	ENST00000253925.7	+	16	2258_2259	c.2043_2044insC	c.(2041-2046)atccccfs	p.IP681fs	PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	681					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGAGCTCCATTCCCCCCTACCC	0.554													7	688	---	---	---	---					
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)tgcfs	p.C9fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	9					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL								14	299	---	---	---	---					
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000393505.4_Splice_Site|ARRB1_ENST00000360025.3_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.550													12	677	---	---	---	---					
KIAA1377	57562	broad.mit.edu	37	11	101828931	101828932	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:101828931_101828932insA	ENST00000263468.8	+	5	809_810	c.539_540insA	c.(538-540)taafs	p.*180fs	KIAA1377_ENST00000537689.1_5'UTR	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	180							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCGCATTATCAAAAAATGATC	0.332													7	949	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													12	379	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	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													17	889	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													7	372	---	---	---	---					
CD3G	917	broad.mit.edu	37	11	118220582	118220583	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:118220582_118220583insA	ENST00000532917.1	+	3	272_273	c.204_205insA	c.(202-207)gaaaaafs	p.EK68fs	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Ins_p.EK8fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	68	Ig-like.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TAACTGAAGATAAAAAAAAATG	0.401													8	277	---	---	---	---					
DPAGT1	1798	broad.mit.edu	37	11	118969142	118969143	+	Frame_Shift_Ins	INS	-	-	A	rs35482889		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:118969142_118969143insA	ENST00000409993.2	-	7	2249_2250	c.698_699insT	c.(697-699)tacfs	p.Y233fs	DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.Y233fs|DPAGT1_ENST00000432443.2_Frame_Shift_Ins_p.Y126fs			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	233					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCAAAGTGGTGAAAAAAAAGGG	0.441													14	692	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:119061042_119061043insG	ENST00000503566.2	-	6	598_599	c.599_600insC	c.(598-600)cggfs	p.R200fs	CCDC153_ENST00000415318.1_Frame_Shift_Ins_p.R200fs			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGAG	0.569													11	264	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													7	943	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													20	1192	---	---	---	---					
GLB1L3	112937	broad.mit.edu	37	11	134181004	134181005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr11:134181004_134181005insC	ENST00000431683.2	+	13	1227_1228	c.1227_1228insC	c.(1225-1230)taccccfs	p.YP409fs		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	409					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGGCTGTGTATCCCCCCGTGAG	0.604													11	1562	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs61750632		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccafs	p.P2377fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGGA	0.604													10	438	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs137990643	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)cggfs	p.R812fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594													10	570	---	---	---	---					
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)ccaagtfs	p.S42fs	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.510													7	397	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													23	665	---	---	---	---					
USP5	8078	broad.mit.edu	37	12	6965283	6965284	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:6965283_6965284insG	ENST00000229268.8	+	4	459_460	c.407_408insG	c.(406-408)cggfs	p.R136fs	USP5_ENST00000389231.5_Frame_Shift_Ins_p.R136fs	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	136					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CGGGATGGACTGGGGGGACTGC	0.510													10	1066	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1267-1272)caccccfs	p.HP423fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	423					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614													10	387	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.490													13	551	---	---	---	---					
M6PR	4074	broad.mit.edu	37	12	9095101	9095102	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:9095101_9095102insC	ENST00000000412.3	-	6	1089_1090	c.621_622insG	c.(619-624)ggtcctfs	p.P208fs		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	208					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TGGTATAGGAACCCCCCAACAA	0.450													7	552	---	---	---	---					
PRB1	5542	broad.mit.edu	37	12	11506884	11506885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:11506884_11506885insG	ENST00000500254.2	-	3	189_190	c.152_153insC	c.(151-153)cccfs	p.P51fs	PRB1_ENST00000546254.1_Frame_Shift_Ins_p.P51fs|PRB1_ENST00000545626.1_Frame_Shift_Ins_p.P51fs	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	234						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTGGAGGAGGTGGGGGGCCCTG	0.579													8	963	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)ccccacfs	p.H1529fs	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465													8	831	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13128321	13128322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:13128321_13128322insC	ENST00000014930.4	-	4	648_649	c.490_491insG	c.(490-492)catfs	p.H164fs	HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	164					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)		GAAGTAGATGTCCCCCCGGTAG	0.579													8	626	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													29	1394	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													24	298	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cggfs	p.R520fs	WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.550													18	390	---	---	---	---					
LIMA1	51474	broad.mit.edu	37	12	50571521	50571522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:50571521_50571522insG	ENST00000547825.1	-	5	1968_1969	c.699_700insC	c.(697-702)ccctgafs	p.*234fs	LIMA1_ENST00000341247.4_Frame_Shift_Ins_p.*536fs|LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.*537fs|LIMA1_ENST00000552823.1_Frame_Shift_Ins_p.*376fs|LIMA1_ENST00000552909.1_Frame_Shift_Ins_p.*375fs|LIMA1_ENST00000552783.1_Frame_Shift_Ins_p.*377fs|LIMA1_ENST00000552491.1_Frame_Shift_Ins_p.*233fs	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	536					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAAGTTCAGTGGGGGGTGGCC	0.540													10	352	---	---	---	---					
AAAS	8086	broad.mit.edu	37	12	53715141	53715142	+	Frame_Shift_Ins	INS	-	-	G	rs138043864		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:53715141_53715142insG	ENST00000209873.4	-	1	273_274	c.108_109insC	c.(106-111)ccacttfs	p.L37fs	AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs|AAAS_ENST00000550286.1_Intron	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													9	226	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.500													14	326	---	---	---	---					
TARBP2	6895	broad.mit.edu	37	12	53898183	53898184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:53898183_53898184insC	ENST00000266987.2	+	5	908_909	c.425_426insC	c.(424-426)accfs	p.T142fs	TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	142					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCTTCAGGAGCCCCCCCATGG	0.564													8	191	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54943666	54943667	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:54943666_54943667insC	ENST00000243052.3	+	2	446_447	c.10_11insC	c.(10-12)cccfs	p.P4fs		NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	4					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	p.S4Y(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CATGGAGCTGTCCCCCCGCAGT	0.629													8	485	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945453	55945454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													10	722	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347139	56347140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56347139_56347140insA	ENST00000331886.5	+	23	2523_2524	c.2069_2070insA	c.(2068-2070)aaafs	p.K690fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.K690fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.K690fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	690					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TATAGCACCACAAAAACCCTTC	0.465													7	2479	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													15	359	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													19	1322	---	---	---	---					
ESYT1	23344	broad.mit.edu	37	12	56531341	56531342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56531341_56531342insG	ENST00000394048.5	+	18	2261_2262	c.1997_1998insG	c.(1996-1998)tggfs	p.W666fs	ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	666	C2 3.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCGTTTCTTGGGGGGACTGG	0.550													9	861	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|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													12	377	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4459-4464)taggggfs	p.*G1487fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													21	392	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													56	1096	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													9	373	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_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)			17	520	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78513129	78513130	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:78513129_78513130insC	ENST00000397909.2	+	15	3326_3327	c.3153_3154insC	c.(3151-3156)aaccccfs	p.NP1051fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.NP1051fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.NP1051fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.NP1051fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1051	Ser-rich.					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						AAGGGAAAAAGCCCCCCTCAGG	0.485										HNSCC(70;0.22)			7	247	---	---	---	---					
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)ttgfs	p.L179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495													8	768	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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	386	---	---	---	---					
MYBPC1	4604	broad.mit.edu	37	12	102057273	102057274	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:102057273_102057274insC	ENST00000549145.1	+	21	2355_2356	c.2255_2256insC	c.(2254-2256)cccfs	p.P752fs	MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.P720fs|MYBPC1_ENST00000550270.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.P726fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.P725fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.P713fs|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.P727fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.P640fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.P739fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	739	Fibronectin type-III 2.			Y -> H (in Ref. 3; CAD38925).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGAGGTGGCGCCCCCCAGACC	0.436													8	501	---	---	---	---					
STAB2	55576	broad.mit.edu	37	12	104131518	104131519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:104131518_104131519insG	ENST00000388887.2	+	53	5861_5862	c.5657_5658insG	c.(5656-5658)cggfs	p.R1886fs		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1886					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						GATCCCACCCTGGGGGGCCGCT	0.510													9	820	---	---	---	---					
SH2B3	10019	broad.mit.edu	37	12	111885938	111885939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:111885938_111885939insC	ENST00000341259.2	+	8	1917_1918	c.1560_1561insC	c.(1558-1563)tcccccfs	p.SP520fs	SH2B3_ENST00000538307.1_Frame_Shift_Ins_p.SP318fs	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	520					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GGCGATCCTCACCCCCCGAGCA	0.639													9	344	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													26	504	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:112690348_112690349insG	ENST00000377560.5	-	22	3310_3311	c.2915_2916insC	c.(2914-2916)ctcfs	p.L972fs	HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L722fs					HECT domain containing E3 ubiquitin protein ligase 4																		AATTTAAGGAAGGGGGGGAAAT	0.396													7	208	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													11	1193	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													30	596	---	---	---	---					
GATC	283459	broad.mit.edu	37	12	120894973	120894974	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:120894973_120894974insC	ENST00000551765.1	+	3	392_393	c.349_350insC	c.(349-351)cccfs	p.P117fs	AL021546.6_ENST00000551806.1_Frame_Shift_Ins_p.A148fs	NM_176818.2	NP_789788.1	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	117					regulation of translational fidelity					breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTACTTTGTGGCCCCCCCAGGT	0.475											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	155	---	---	---	---					
HNF1A	6927	broad.mit.edu	37	12	121432117	121432118	+	Frame_Shift_Ins	INS	-	-	C	rs56348580	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:121432117_121432118insC	ENST00000257555.6	+	4	1090_1091	c.864_865insC	c.(862-867)ggccccfs	p.GP288fs	HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.GP171fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.GP288fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	288					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGTACAGCGGGCCCCCCCCAGG	0.663									Hepatic Adenoma, Familial Clustering of				8	47	---	---	---	---					
SLC15A4	121260	broad.mit.edu	37	12	129285429	129285430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:129285429_129285430insA	ENST00000266771.5	-	6	1422_1423	c.1383_1384insT	c.(1381-1386)atggatfs	p.MD461fs	SLC15A4_ENST00000544112.1_Frame_Shift_Ins_p.MD124fs|SLC15A4_ENST00000545031.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	461					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TCGCTGATCCCAATCAGCAAGT	0.540													31	170	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					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)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					9	268	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													7	253	---	---	---	---					
KBTBD7	84078	broad.mit.edu	37	13	41767068	41767069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:41767068_41767069insC	ENST00000379483.3	-	1	1633_1634	c.1325_1326insG	c.(1324-1326)gcgfs	p.A442fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	442							protein binding	p.G442G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TAGGGTCTCGTCCCCCCAAAAT	0.480													7	543	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	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|MBNL2_ENST00000445661.2_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													8	366	---	---	---	---					
OR4K5	79317	broad.mit.edu	37	14	20389293	20389294	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:20389293_20389294insT	ENST00000315915.4	+	1	553_554	c.528_529insT	c.(526-531)agttttfs	p.SF176fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTAGACAGCTTTTTTTGTGA	0.421													11	1446	---	---	---	---					
RNASE3	6037	broad.mit.edu	37	14	21359982	21359983	+	Frame_Shift_Ins	INS	-	-	C	rs142084658	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:21359982_21359983insC	ENST00000304639.3	+	2	195_196	c.137_138insC	c.(136-138)accfs	p.T46fs		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	46					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	ATCAGTCTGAACCCCCCTCGAT	0.480													7	467	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2200-2205)gaggggfs	p.EG734fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629													8	224	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													10	156	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													8	194	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													13	179	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)gggfs	p.G326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated		DNA binding|transposase activity	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644													12	178	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93720047	93720048	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr14:93720047_93720048insT	ENST00000334746.5	-	7	2004_2005	c.1697_1698insA	c.(1696-1698)agcfs	p.S566fs	BTBD7_ENST00000554565.1_Frame_Shift_Ins_p.S215fs|BTBD7_ENST00000393170.2_Frame_Shift_Ins_p.S140fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	566										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGATGCCAGCATTTTTTTGCCG	0.386													7	330	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													33	1050	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				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)		CTGCGGGGTGAGGGGGGAAACG	0.584													9	586	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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)	9	233	---	---	---	---					
SORD	6652	broad.mit.edu	37	15	45353365	45353366	+	Frame_Shift_Ins	INS	-	-	C	rs11542063	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													12	338	---	---	---	---					
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccagafs	p.R872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663													7	127	---	---	---	---					
MEGF11	84465	broad.mit.edu	37	15	66191095	66191101	+	Frame_Shift_Del	DEL	GACAAGG	GACAAGG	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:66191095_66191101delGACAAGG	ENST00000409699.2	-	22	3111_3117	c.2939_2945delCCTTGTC	c.(2938-2946)tgfs	p.SLS980fs	MEGF11_ENST00000288745.3_Frame_Shift_Del_p.SLS905fs|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000422354.1_Frame_Shift_Del_p.SLS980fs|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Frame_Shift_Del_p.SLS905fs			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	980						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ATTAGATGTCGACAAGGATGGCACATC	0.430													10	186	---	---	---	---					
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	RNA	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.490													8	481	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314																											TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557													3	3	---	---	---	---					
ABHD2	11057	broad.mit.edu	37	15	89694927	89694928	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr15:89694927_89694928insG	ENST00000352732.5	+	4	734_735	c.214_215insG	c.(214-216)gggfs	p.G72fs	ABHD2_ENST00000355100.3_Frame_Shift_Ins_p.G72fs|ABHD2_ENST00000565973.1_Frame_Shift_Ins_p.G72fs	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	72						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACCGTTGATCTGGGGGAAAAGT	0.446													8	408	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564													10	552	---	---	---	---					
HCFC1R1	54985	broad.mit.edu	37	16	3073265	3073266	+	Frame_Shift_Ins	INS	-	-	G	rs147841549	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:3073265_3073266insG	ENST00000248089.3	-	3	553_554	c.249_250insC	c.(247-252)cctgacfs	p.D84fs	HCFC1R1_ENST00000354679.3_Frame_Shift_Ins_p.D82fs|HCFC1R1_ENST00000572355.1_Frame_Shift_Ins_p.D44fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Ins_p.D84fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Ins_p.D65fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Ins_p.D84fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	84						cytoplasm|nucleus		p.M65fs*1(1)		breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GAGAAGGTCATGGGGGGGCTGC	0.619													8	60	---	---	---	---					
MGRN1	23295	broad.mit.edu	37	16	4700413	4700414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:4700413_4700414insC	ENST00000399577.5	+	2	229_230	c.136_137insC	c.(136-138)cccfs	p.P46fs	MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000588994.1_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	1316	---	---	---	---					
GPR139	124274	broad.mit.edu	37	16	20043388	20043389	+	Frame_Shift_Ins	INS	-	-	G	rs140063049	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20043388_20043389insG	ENST00000570682.1	-	2	1030_1031	c.730_731insC	c.(730-732)catfs	p.H244fs		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	244						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CATGATGATGCGGGGGGCCCAA	0.545													9	343	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429391	20429392	+	Frame_Shift_Ins	INS	-	-	C	rs149315908	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20429391_20429392insC	ENST00000331849.4	+	3	362_363	c.215_216insC	c.(214-216)cccfs	p.P72fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.P72fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	72					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGGACACCGCCCCCCAAATC	0.455													7	226	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													8	386	---	---	---	---					
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs146499503		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)ccgcacfs	p.H405fs	ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515													10	396	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	20966297	20966298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													7	323	---	---	---	---					
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													8	807	---	---	---	---					
ERN2	10595	broad.mit.edu	37	16	23718095	23718096	+	Frame_Shift_Ins	INS	-	-	G	rs143761786		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:23718095_23718096insG	ENST00000256797.4	-	6	778_779	c.610_611insC	c.(610-612)cctfs	p.P204fs	ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGAG	0.604													8	519	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													7	114	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													19	986	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57485112	57485113	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:57485112_57485113insC	ENST00000262507.6	+	2	303_304	c.234_235insC	c.(232-237)tcccccfs	p.SP78fs	COQ9_ENST00000567933.1_Frame_Shift_Ins_p.SP78fs|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Frame_Shift_Ins_p.SP78fs	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	78					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTCTCATTCACCCCCCAGGTA	0.495													10	320	---	---	---	---					
GPR114	221188	broad.mit.edu	37	16	57600565	57600566	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:57600565_57600566insG	ENST00000340339.4	+	7	1124_1125	c.601_602insG	c.(601-603)gggfs	p.G201fs	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Frame_Shift_Ins_p.G201fs	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	201	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAACAGCCCTGGGGGGGCTGG	0.604													8	71	---	---	---	---					
MARVELD3	91862	broad.mit.edu	37	16	71668441	71668442	+	Frame_Shift_Ins	INS	-	-	G	rs150498655	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr16:71668441_71668442insG	ENST00000268485.3	+	3	985_986	c.941_942insG	c.(940-942)gggfs	p.G314fs	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	314	MARVEL.					integral to membrane		p.A314V(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTACA	0.579													7	143	---	---	---	---					
OR1A2	26189	broad.mit.edu	37	17	3100900	3100901	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:3100900_3100901insT	ENST00000381951.1	+	1	88_89	c.88_89insT	c.(88-90)tttfs	p.F30fs		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CTTCTTTGTGATTTTTTTGTGC	0.401													8	689	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:4884523_4884524insC	ENST00000361571.5	-	7	1104_1105	c.693_694insG	c.(691-696)ggttggfs	p.W232fs	CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.550											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	710	---	---	---	---					
KIF1C	10749	broad.mit.edu	37	17	4907860	4907861	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:4907860_4907861insG	ENST00000320785.5	+	12	1297		c.e12-1			NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C						microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTCCATTCACAGGGGGGAACTC	0.579													7	263	---	---	---	---					
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)cccfs	p.P301fs	WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	301	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCTTACCCTACCCCCCGGTTC	0.564													11	1407	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													7	1103	---	---	---	---					
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													12	227	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													30	755	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													7	187	---	---	---	---					
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:31439004_31439005insC	ENST00000225823.2	-	2	1661_1662	c.789_790insG	c.(787-792)ggcaggfs	p.R264fs	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.550													9	264	---	---	---	---					
LIG3	3980	broad.mit.edu	37	17	33318739	33318740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:33318739_33318740insC	ENST00000378526.4	+	6	1224_1225	c.1091_1092insC	c.(1090-1092)tccfs	p.S364fs	LIG3_ENST00000262327.5_Frame_Shift_Ins_p.S364fs	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	364					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGCAAGTCTTTCCCCCCAGCTG	0.545								Other BER factors					7	397	---	---	---	---					
SYNRG	11276	broad.mit.edu	37	17	35880695	35880695	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:35880695delA	ENST00000339208.6	-	20	3863	c.3723delT	c.(3721-3723)aafs	p.N1241fs	SYNRG_ENST00000591288.1_Frame_Shift_Del_p.N1035fs|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.N1162fs|SYNRG_ENST00000502449.2_Frame_Shift_Del_p.N1118fs|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.N1163fs|SYNRG_ENST00000394378.2_Frame_Shift_Del_p.N1186fs|SYNRG_ENST00000346661.4_Frame_Shift_Del_p.N1241fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1241					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTCCTGAGCATTTTTAATCC	0.512													38	193	---	---	---	---					
CNTNAP1	8506	broad.mit.edu	37	17	40847732	40847732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:40847732delC	ENST00000264638.4	+	19	3403	c.3186delC	c.(3184-3186)tafs	p.Y1062fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1062					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCCCGACTACCCCCGGCCTG	0.667													15	139	---	---	---	---					
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-645)cccfs	p.P215fs	CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629													11	129	---	---	---	---					
SGCA	6442	broad.mit.edu	37	17	48243426	48243427	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:48243426_48243427insAA	ENST00000262018.3	+	1	61_62	c.25_26insAA	c.(25-27)tctfs	p.S9fs	SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.S9fs|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.S9fs|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	9					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTTCTGGACTCCTCTCCTCGTG	0.658													80	375	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs	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	1130	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													8	288	---	---	---	---					
SCN4A	6329	broad.mit.edu	37	17	62049212	62049213	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:62049212_62049213insG	ENST00000578147.1	-	4	559		c.e4-2		SCN4A_ENST00000435607.1_Splice_Site			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AAGGTGTACCTGGGGGGGAGAG	0.589													8	114	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													18	778	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													11	214	---	---	---	---					
ACSBG2	81616	broad.mit.edu	37	19	6187325	6187326	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:6187325_6187326insC	ENST00000588304.1	+	12	1868_1869	c.1422_1423insC	c.(1420-1425)gtccccfs	p.VP474fs	ACSBG2_ENST00000586696.1_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000252669.5_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Frame_Shift_Ins_p.VP524fs|ACSBG2_ENST00000588485.1_Frame_Shift_Ins_p.VP337fs			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	524					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAAAATGTGCCCCCCATTCC	0.480													10	423	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													7	233	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													18	491	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													27	372	---	---	---	---					
ZNF443	10224	broad.mit.edu	37	19	12542363	12542364	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:12542363_12542364insA	ENST00000301547.5	-	4	819_820	c.622_623insT	c.(622-624)gccfs	p.A208fs	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	208					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAACTGGGCCAAAAAAACGCT	0.406													7	375	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	15996865	15996866	+	Splice_Site	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:15996865_15996866insG	ENST00000221700.5	-	9	1081		c.e9-2		CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCATGGCCTGGGGGGCAGCA	0.629													7	327	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gctfs	p.A139fs	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087).				calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569													7	311	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584													7	81	---	---	---	---					
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													14	195	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													18	418	---	---	---	---					
ZNF567	163081	broad.mit.edu	37	19	37210634	37210635	+	Frame_Shift_Del	DEL	GT	GT	-	rs117657033	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:37210634_37210635delGT	ENST00000585696.1	+	3	2145_2146	c.915_916delGT	c.(913-918)tcatfs	p.SY305fs	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Frame_Shift_Del_p.SY305fs|ZNF567_ENST00000536254.2_Frame_Shift_Del_p.SY336fs|ZNF567_ENST00000392163.2_Frame_Shift_Del_p.SY305fs|ZNF567_ENST00000360729.4_Frame_Shift_Del_p.SY305fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAATCGTATGAATGTCT	0.455													7	96	---	---	---	---					
ZNF781	163115	broad.mit.edu	37	19	38160944	38160945	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:38160944_38160945insAC	ENST00000358582.4	-	4	853_854	c.105_106insGT	c.(103-108)tgagatfs	p.*D35fs	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Frame_Shift_Ins_p.*D35fs	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CCACATATCTGACATTCATAGG	0.376													7	638	---	---	---	---					
HIPK4	147746	broad.mit.edu	37	19	40886757	40886758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:40886757_40886758insG	ENST00000291823.2	-	3	1424_1425	c.1140_1141insC	c.(1138-1143)cccgccfs	p.A381fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	381			T -> M (in dbSNP:rs55760165).			cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACGACGGGCGTGGGGGGCTTCC	0.658													9	552	---	---	---	---					
HNRNPUL1	11100	broad.mit.edu	37	19	41798238	41798239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:41798238_41798239insG	ENST00000392006.3	+	8	1261_1262	c.1088_1089insG	c.(1087-1089)tggfs	p.W363fs	HNRNPUL1_ENST00000602130.1_Frame_Shift_Ins_p.W363fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Ins_p.W274fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Ins_p.W263fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Ins_p.W249fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	363	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGGAAGCCTTGGGGGGTCAGG	0.500													7	515	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs	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	286	---	---	---	---					
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:42621520_42621521insG	ENST00000560398.1	-	5	257_258	c.250_251insC	c.(250-252)gatfs	p.D84fs	POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	62					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCCTTGATCTGGGGGGGAGAG	0.634													19	251	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													16	651	---	---	---	---					
CADM4	199731	broad.mit.edu	37	19	44131379	44131380	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:44131379_44131380insC	ENST00000222374.2	-	3	350_351	c.302_303insG	c.(301-303)gtafs	p.V101fs		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	101	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GGCAGAAATAGCCCCCCTCGTC	0.604													7	195	---	---	---	---					
ZNF233	353355	broad.mit.edu	37	19	44771142	44771157	+	Frame_Shift_Del	DEL	GCGGGGTACAGCCTAG	GCGGGGTACAGCCTAG	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:44771142_44771157delGCGGGGTACAGCCTAG	ENST00000592581.1	+	4	372_387	c.266_281delGCGGGGTACAGCCTAG	c.(265-282)ttfs	p.CGVQPS89fs	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000391958.2_Intron|ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000589522.1_Intron	NM_001207005.1	NP_001193934.1	A6NK53	ZN233_HUMAN	zinc finger protein 233	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTGAGTCTTTGCGGGGTACAGCCTAGTCCTCTCctc	0.532													12	94	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													8	316	---	---	---	---					
CPT1C	126129	broad.mit.edu	37	19	50203963	50203964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:50203963_50203964insG	ENST00000392518.4	+	5	676_677	c.304_305insG	c.(304-306)gggfs	p.G102fs	CPT1C_ENST00000598293.1_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000323446.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000354199.5_Frame_Shift_Ins_p.G102fs|CPT1C_ENST00000405931.2_Frame_Shift_Ins_p.G102fs	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCACGGGCTCCGGGGGGTCCTG	0.673													8	374	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													15	512	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													8	256	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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	382	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													11	640	---	---	---	---					
ZNF544	27300	broad.mit.edu	37	19	58758151	58758152	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr19:58758151_58758152insC	ENST00000599227.1	+	6	784_785	c.200_201insC	c.(199-201)gccfs	p.A67fs	ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000596929.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000596825.1_Frame_Shift_Ins_p.A67fs|ZNF544_ENST00000415203.2_Intron|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000269829.4_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000333581.5_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000594384.1_Frame_Shift_Ins_p.A67fs|ZNF544_ENST00000596652.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000595981.1_Frame_Shift_Ins_p.P79fs			Q6NX49	ZN544_HUMAN	zinc finger protein 544	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAGCAGGAGGCCCCCCGAGGT	0.564													14	471	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													7	463	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													13	294	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													9	174	---	---	---	---					
ACSS2	55902	broad.mit.edu	37	20	33502205	33502206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:33502205_33502206insC	ENST00000360596.2	+	7	1010_1011	c.799_800insC	c.(799-801)cccfs	p.P267fs	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Frame_Shift_Ins_p.P267fs|ACSS2_ENST00000336325.4_Frame_Shift_Ins_p.P217fs	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	267					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCAGCCAGTCCCCCCCAATT	0.535													10	194	---	---	---	---					
ZHX3	23051	broad.mit.edu	37	20	39830891	39830892	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:39830891_39830892insC	ENST00000309060.3	-	4	3080_3081	c.2665_2666insG	c.(2665-2667)ggafs	p.G889fs	ZHX3_ENST00000560361.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000559234.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Frame_Shift_Ins_p.G889fs|ZHX3_ENST00000432768.2_Frame_Shift_Ins_p.G889fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	889					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGGTCTCCTCCCCCATTTTC	0.554													9	1137	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													18	382	---	---	---	---					
SGK2	10110	broad.mit.edu	37	20	42195065	42195066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:42195065_42195066insC	ENST00000341458.4	+	1	329_330	c.110_111insC	c.(109-111)gccfs	p.A37fs	SGK2_ENST00000373092.3_Intron|SGK2_ENST00000423407.3_Intron|SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000426287.1_Intron	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	37					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCGGAGCTGACCCCCCAACAC	0.614													7	242	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													39	708	---	---	---	---					
WFDC3	140686	broad.mit.edu	37	20	44404105	44404106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:44404105_44404106insG	ENST00000243938.4	-	6	712_713	c.629_630insC	c.(628-630)caafs	p.Q210fs	WFDC3_ENST00000372630.2_Frame_Shift_Ins_p.Q73fs|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Frame_Shift_Ins_p.Q116fs	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	210						extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				TGGTCAGTTTTGGGGGCAGGAC	0.480													9	1150	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													10	687	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													34	1382	---	---	---	---					
SPATA2	9825	broad.mit.edu	37	20	48522802	48522803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:48522802_48522803insG	ENST00000422556.1	-	3	1265_1266	c.916_917insC	c.(916-918)cggfs	p.R306fs	SPATA2_ENST00000289431.5_Frame_Shift_Ins_p.R306fs|SPATA2_ENST00000543716.1_Frame_Shift_Ins_p.R169fs	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	306					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGGGCTGCCGTGGGGGGAGCTG	0.644													10	368	---	---	---	---					
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)catfs	p.H247fs	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	247					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGCTGATCGGGGGGTCGCT	0.564													10	790	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)tccfs	p.S995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559													10	228	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													9	169	---	---	---	---					
KRTAP26-1	388818	broad.mit.edu	37	21	31691917	31691918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:31691917_31691918insG	ENST00000360542.3	-	1	689_690	c.436_437insC	c.(436-438)attfs	p.I146fs		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	146						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGCAGAATTGGGGGCGATAG	0.550													10	926	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													12	169	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													17	614	---	---	---	---					
RRP1B	23076	broad.mit.edu	37	21	45095032	45095033	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:45095032_45095033insG	ENST00000340648.4	+	6	654_655	c.537_538insG	c.(535-540)gtggggfs	p.VG179fs		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	179					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TCTCCAAAGTCGGGGGGAAGGA	0.569													7	195	---	---	---	---					
KRTAP12-3	386683	broad.mit.edu	37	21	46078127	46078128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:46078127_46078128insC	ENST00000397907.1	+	1	279_280	c.231_232insC	c.(229-234)caccccfs	p.HP77fs	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	77	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGTGCTGCCAGCCCCCCTGCAC	0.639													7	378	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)gctfs	p.A1760fs	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525													11	423	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													9	616	---	---	---	---					
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)ggtgaafs	p.E465fs	CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564													11	419	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399220	21399221	+	RNA	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:21399220_21399221insC	ENST00000439119.1	-	0	51					NR_002829.1																						TCTGCAGGGCGCCCCCCCACCA	0.599													12	231	---	---	---	---					
TPST2	8459	broad.mit.edu	37	22	26932298	26932299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:26932298_26932299insG	ENST00000338754.4	-	4	1266_1267	c.996_997insC	c.(994-999)ccactafs	p.L333fs	TPST2_ENST00000403880.1_Frame_Shift_Ins_p.L333fs|TPST2_ENST00000398110.2_Frame_Shift_Ins_p.L333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	333					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTTG	0.584													9	313	---	---	---	---					
OSBP2	23762	broad.mit.edu	37	22	31289119	31289120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:31289119_31289120insC	ENST00000332585.6	+	9	1984_1985	c.1880_1881insC	c.(1879-1881)cccfs	p.P627fs	OSBP2_ENST00000401475.1_Frame_Shift_Ins_p.P260fs|OSBP2_ENST00000403222.3_Frame_Shift_Ins_p.P461fs|OSBP2_ENST00000446658.2_Frame_Shift_Ins_p.P626fs|OSBP2_ENST00000437268.2_Frame_Shift_Ins_p.P369fs|OSBP2_ENST00000382310.3_Frame_Shift_Ins_p.P578fs|OSBP2_ENST00000535268.1_Frame_Shift_Ins_p.P171fs|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000407373.1_Frame_Shift_Ins_p.P454fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	627					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGAGCCACCACCCCCCCTCAG	0.594													8	116	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:37499435_37499436insG	ENST00000381792.2	-	2	162_163	c.22_23insC	c.(22-24)ggtfs	p.G8fs	TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658													11	795	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													10	242	---	---	---	---					
GTPBP1	9567	broad.mit.edu	37	22	39122087	39122088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:39122087_39122088insC	ENST00000216044.5	+	7	1383_1384	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	384					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CAACCTCCTCTCCCCCCGCACC	0.569													7	367	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(397-402)caccccfs	p.HP133fs	ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	133					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTAATAAGCAGCCCCCCCAGAC	0.525													8	245	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40708590	40708591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:40708590_40708591insG	ENST00000454349.2	+	18	4728_4729	c.4517_4518insG	c.(4516-4518)cggfs	p.R1506fs	TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs	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													9	608	---	---	---	---					
SEPT3	55964	broad.mit.edu	37	22	42387614	42387615	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:42387614_42387615insC	ENST00000396425.3	+	7	838_839	c.707_708insC	c.(706-708)tccfs	p.S236fs	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000396426.3_Frame_Shift_Ins_p.S236fs|SEPT3_ENST00000406029.1_Frame_Shift_Ins_p.S172fs|SEPT3_ENST00000291236.11_Frame_Shift_Ins_p.S172fs	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	236					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ATTGAATTCTACCCCCAGAAGG	0.505													7	544	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													15	594	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													21	314	---	---	---	---					
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)gggfs	p.G133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	133					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495													8	389	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													16	208	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													8	119	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	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													8	394	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs|SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													13	361	---	---	---	---					
KDM5C	8242	broad.mit.edu	37	X	53227036	53227042	+	Frame_Shift_Del	DEL	GTAGACC	GTAGACC	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:53227036_53227042delGTAGACC	ENST00000452825.3	-	16	2864_2870	c.2332_2338delGGTCTAC	c.(2332-2340)agfs	p.GLQ778fs	KDM5C_ENST00000375379.3_Frame_Shift_Del_p.GLQ845fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.GLQ804fs|KDM5C_ENST00000375401.3_Frame_Shift_Del_p.GLQ845fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.GLQ844fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	845					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGGTCATCTGTAGACCAGCCACCCTG	0.536			"""N, F, S"""		clear cell renal carcinoma								5	8	---	---	---	---					
KLHL4	56062	broad.mit.edu	37	X	86890606	86890606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:86890606delT	ENST00000373119.4	+	9	1901	c.1756delT	c.(1756-1758)cafs	p.S586fs	KLHL4_ENST00000373114.4_Frame_Shift_Del_p.S586fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	586						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTGCCTCAAATCAATGGAATA	0.398													87	49	---	---	---	---					
VSIG1	340547	broad.mit.edu	37	X	107310311	107310312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:107310311_107310312insC	ENST00000415430.3	+	4	628_629	c.467_468insC	c.(466-468)accfs	p.T156fs	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Frame_Shift_Ins_p.T120fs	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	120	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GATGTTAACAACCCCCCAGACT	0.436													7	592	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													18	142	---	---	---	---					
IGSF1	3547	broad.mit.edu	37	X	130411035	130411036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:130411035_130411036insC	ENST00000370904.1	-	20	3368_3369	c.2458_2459insG	c.(2458-2460)cagfs	p.Q820fs	IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.Q834fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.Q820fs|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.Q829fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	829	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGCTGCACTGGCCCCCGGACTT	0.490													11	649	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3319-01A-01W-0886-08	TCGA-A3-3319-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599ceb82-7d7a-4bd8-b1fb-2b04b5e4ef44	3cf11e36-4249-4b4d-9def-42e9ec38e274	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													23	308	---	---	---	---