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
KRT76	51350	broad.mit.edu	37	12	53170786	53170786	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:53170786C>A	ENST00000332411.2	-	1	343	c.290G>T	c.(289-291)gGc>gTc	p.G97V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	97	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						gcccccaaagccacctccata	0.617000													5	95					1	1	1	1	0
SLC43A1	8501	broad.mit.edu	37	11	57256464	57256464	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													5	116					0	0	1	0	0
PNO1	56902	broad.mit.edu	37	2	68389676	68389676	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:68389676A>T	ENST00000263657.2	+	5	593		c.e5-1			NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)							nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						TTTCTTGTTTAGTTAAACCCC	0.403000													4	85					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549066	158549066	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:158549066A>T	ENST00000368150.1	-	1	623	c.624T>A	c.(622-624)agT>agA	p.S208R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGTGTGGTTACTGTCTATAC	0.433000													5	110					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328497	74328497	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:74328497C>A	ENST00000409262.3	+	9	4177	c.4177C>A	c.(4177-4179)Ccc>Acc	p.P1393T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1393							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGGCTGGGCCCAGCCTGAC	0.637000													6	74					2.80697e-09	3.01825e-09	1	1	0
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448000													9	41					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187506111	187506111	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:187506111A>T	ENST00000261023.3	+	12	1230		c.e12-1		ITGAV_ENST00000433736.2_Splice_Site|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Splice_Site	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V						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)		CTGTTCTTCTAGTTATGCAGA	0.433000													6	151					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897195	61897195	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:61897195A>T	ENST00000427159.2	-	21	3156	c.2511T>A	c.(2509-2511)cgT>cgA	p.R837R		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	837					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TTTGTTCCTTACGTTGCTGTG	0.537000													30	881					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													13	989					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186092081	186092081	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:186092081A>T	ENST00000271588.4	+	81	12458		c.e81-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTATATTTTAGTTCCTCCAG	0.388000													5	125					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799343	45799343	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:45799343G>T	ENST00000553795.1	-	4	836	c.528C>A	c.(526-528)atC>atA	p.I176I	OR13A1_ENST00000374401.2_Silent_p.I176I|OR13A1_ENST00000536058.1_Silent_p.I176I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCCCCGTGTGGATGGCCGTGT	0.602000													6	96					3.09899e-07	3.28514e-07	1	1	0
UBR5	51366	broad.mit.edu	37	8	103317335	103317335	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:103317335A>T	ENST00000520539.1	-	21	3411	c.2805T>A	c.(2803-2805)aaT>aaA	p.N935K	UBR5_ENST00000220959.4_Missense_Mutation_p.N935K|UBR5_ENST00000521922.1_Missense_Mutation_p.N929K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	935					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGTTTCTTTATTGCTGGTTG	0.358000													5	219					0	0	1	0	0
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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	356					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38272312	38272312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:38272312A>T	ENST00000447712.2	-	14	2903	c.1962T>A	c.(1960-1962)taT>taA	p.Y654*	FGFR1_ENST00000397091.5_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397108.4_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000425967.3_Nonsense_Mutation_p.Y685*|FGFR1_ENST00000356207.5_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000397113.2_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397103.1_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000341462.5_Nonsense_Mutation_p.Y654*|FGFR1_ENST00000335922.5_Nonsense_Mutation_p.Y644*|FGFR1_ENST00000532791.1_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000326324.6_Nonsense_Mutation_p.Y563*	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	654	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTGTCTTTTTATAGTAGTCGA	0.557000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						8	405					0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131722793	131722793	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:131722793G>A	ENST00000245407.3	+	5	1122	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A325T	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	301			A -> D (in CDSP; has 2-3% residual carnitine transport of the value measured in cells expressing the wild-type protein).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCGCAAGGCTGCCAAAGCCAA	0.537000											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	1032					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148444	129148444	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:129148444C>A	ENST00000540052.1	+	3	1740	c.1696C>A	c.(1696-1698)Cct>Act	p.P566T	BCORL1_ENST00000218147.7_Missense_Mutation_p.P566T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P566T|BCORL1_ENST00000359304.2_Missense_Mutation_p.P566T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	566	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.P566T(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AACTCCACAGCCTCTGCTGCC	0.632000													55	74					2.80097e-13	3.07798e-13	1	1	0
TTC22	55001	broad.mit.edu	37	1	55251692	55251692	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:55251692T>C	ENST00000371276.4	-	5	1087	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TTC22_ENST00000371274.4_Silent_p.P328P	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	328							binding	p.P328P(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						AGTTGAGTTCTGGATCTCGTA	0.552000													24	72					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90281337	90281337	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:90281337A>T	ENST00000268130.7	+	16	1932	c.1831A>T	c.(1831-1833)Aat>Tat	p.N611Y	WDR93_ENST00000560294.1_Missense_Mutation_p.N583Y|WDR93_ENST00000444934.2_Missense_Mutation_p.N328Y	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	611					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTTCTATTTTAATTTTGAGGC	0.443000													8	571					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90547013	90547013	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:90547013C>A	ENST00000406263.1	+	7	1104	c.662C>A	c.(661-663)aCg>aAg	p.T221K	CDK14_ENST00000265741.3_Missense_Mutation_p.T249K|CDK14_ENST00000436577.2_Missense_Mutation_p.T138K|CDK14_ENST00000380050.3_Missense_Mutation_p.T267K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	267	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATCAGTGACACGGGGGAGTTA	0.448000													4	253					1.23904e-05	1.29969e-05	1	1	0
CELA2A	63036	broad.mit.edu	37	1	15798500	15798500	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:15798500T>A	ENST00000359621.4	+	8	833	c.808T>A	c.(808-810)Taa>Aaa	p.*270K	CELA2B_ENST00000494280.1_Intron	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	0					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGCAAATAACTAACCAAAAGA	0.433000													5	164					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108678	93108678	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:93108678A>T	ENST00000359558.2	-	5	546	c.247T>A	c.(247-249)Tac>Aac	p.Y83N	CALCR_ENST00000426151.1_Missense_Mutation_p.Y65N|CALCR_ENST00000394441.1_Missense_Mutation_p.Y65N|CALCR_ENST00000360249.4_Missense_Mutation_p.Y65N|CALCR_ENST00000421592.1_Missense_Mutation_p.Y65N	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	65					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCTCCTTGGTATGCGGGTAAC	0.368000													5	350					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955937	57955937	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:57955937A>G	ENST00000334181.4	+	3	1671	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K387R(1)|p.K474R(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)		ATTCAACACAAGAGGATTGAC	0.448000													178	327					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873692	37873692	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:37873692A>T	ENST00000295324.3	-	2	1039	c.39T>A	c.(37-39)aaT>aaA	p.N13K	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	13					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CTTTCTTGTTATTGGCTGCTT	0.448000													5	208					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109450	151109450	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:151109450T>G	ENST00000341697.3	-	11	2548	c.857A>C	c.(856-858)aAc>aCc	p.N286T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	286	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACAGAGCAGTTGAGCCGAAG	0.572000													6	419					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41566408	41566408	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:41566408A>T	ENST00000263253.7	+	27	5505		c.e27-1		RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATTGTTAGTTACACAAC	0.383000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	181					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785300	54785300	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:54785300C>T	ENST00000218436.6	-	8	1236	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	403	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G403S(1)									GTCGTCACGCCGGCCGTGGGC	0.597000													58	112					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	335					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													10	229					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908473	164908473	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:164908473T>C	ENST00000475390.1	-	2	589	c.146A>G	c.(145-147)tAc>tGc	p.Y49C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Y49C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	49						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AACTTCACAGTAGCATGGATC	0.388000										HNSCC(40;0.11)			3	153					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428000													8	284					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	232952199	232952199	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:232952199A>T	ENST00000325385.7	+	6	645	c.369A>T	c.(367-369)gtA>gtT	p.V123V	DIS3L2_ENST00000273009.6_Silent_p.V123V|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000409401.3_Silent_p.V123V|DIS3L2_ENST00000409307.1_Silent_p.V123V|DIS3L2_ENST00000360410.4_Silent_p.V123V	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	123							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTCTTTAGGTAGTTAAACCAG	0.393000													5	68					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44425962	44425962	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:44425962G>A	ENST00000372343.3	+	12	2732	c.2070G>A	c.(2068-2070)aaG>aaA	p.K690K		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	690					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.K690K(1)		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)				TTATCCAGAAGGTGCTGAGCA	0.562000													25	534					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141727751	141727751	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:141727751T>A	ENST00000522684.1	-	23	2317	c.2088A>T	c.(2086-2088)agA>agT	p.R696S	PTK2_ENST00000519465.1_Missense_Mutation_p.R324S|PTK2_ENST00000535192.1_Missense_Mutation_p.R696S|PTK2_ENST00000519419.1_Missense_Mutation_p.R740S|PTK2_ENST00000340930.3_Missense_Mutation_p.R696S|PTK2_ENST00000521059.1_Missense_Mutation_p.R696S|PTK2_ENST00000395218.2_Missense_Mutation_p.R696S|PTK2_ENST00000538769.1_Missense_Mutation_p.R364S|PTK2_ENST00000430260.2_Missense_Mutation_p.R6S|PTK2_ENST00000517887.1_Missense_Mutation_p.R740S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	696					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.R718S(1)|p.R696S(1)|p.R648S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGCCTGTCTTCTGGACTCCA	0.537000													141	293					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42180387	42180387	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:42180387T>C	ENST00000401548.3	+	25	3172	c.3132T>C	c.(3130-3132)gcT>gcC	p.A1044A	MEI1_ENST00000400107.1_Silent_p.A377A|MEI1_ENST00000300398.4_Silent_p.A52A|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1044							binding	p.A1050A(1)		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						TATTGAAGGCTCTCAGCTTTC	0.493000													53	87					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134618	96134618	+	RNA	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:96134618C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TGCAGCAGTCCATTGACCAAT	0.517000			T	TRA@	T-ALL								4	231					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33235518	33235518	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:33235518T>A	ENST00000482399.1	-	9	1530		c.e9-2		VPS52_ENST00000445902.2_Splice_Site|VPS52_ENST00000436044.2_Splice_Site|VPS52_ENST00000478934.1_Intron			Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTCCTCATACTAAGGAAAGAG	0.473000													6	538					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	48					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000507469.1_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	102					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52649373	52649373	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:52649373T>A	ENST00000356770.4	-	14	1824	c.1822A>T	c.(1822-1824)Aag>Tag	p.K608*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K640*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K640*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K655*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K655*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K640*			Q86U86	PB1_HUMAN	polybromo 1	640	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.K640*(2)|p.K608*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTACTCAGCTTGAGTTTGGGA	0.363000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								11	41					0	0	1	0	0
ATG12	9140	broad.mit.edu	37	5	115177150	115177150	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:115177150G>C	ENST00000509910.1	-	1	405	c.100C>G	c.(100-102)Ccc>Gcc	p.P34A	ATG12_ENST00000500945.2_Missense_Mutation_p.P34A|ATG12_ENST00000274459.4_Missense_Mutation_p.P81A			O94817	ATG12_HUMAN	autophagy related 12	34					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		GAAGACGGGGGCTCCGGGGTG	0.567000													8	80					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161812	239161812	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:239161812C>T	ENST00000254657.3	-	19	3131	c.2852G>A	c.(2851-2853)aGc>aAc	p.S951N	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	951	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGAGGTCCGGCTGGGGAACTC	0.662000													3	84					0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20230758	20230758	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:20230758A>T	ENST00000375120.3	+	5	607		c.e5-1			NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3											breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTTCCTTTAGTTTCAGATG	0.338000													4	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048933	9048933	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:9048933G>C	ENST00000397910.4	-	5	32901	c.32698C>G	c.(32698-32700)Cct>Gct	p.P10900A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10902	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTCACCAGGAGAAAGAGTC	0.493000													7	983					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343000													16	291					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63915942	63915942	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:63915942G>T	ENST00000443617.2	-	73	13680	c.13593C>A	c.(13591-13593)acC>acA	p.T4531T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4531	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.T4531T(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTCTGTGATGGTGTCATCAA	0.522000													209	294					5.12032e-141	5.84067e-141	1	1	0
MKL1	57591	broad.mit.edu	37	22	40859228	40859228	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:40859228G>A	ENST00000396617.3	-	4	594	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MKL1_ENST00000402630.1_Missense_Mutation_p.P2S|MKL1_ENST00000402042.1_Missense_Mutation_p.P2S|MKL1_ENST00000355630.3_Missense_Mutation_p.P2S|MKL1_ENST00000407029.1_Missense_Mutation_p.P2S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	2	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.P2S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CACTTACGCGGCATGATCCCT	0.527000			T	RBM15	acute megakaryocytic leukemia								5	708					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099852	27099852	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:27099852C>A	ENST00000324856.7	+	15	4102	c.3731C>A	c.(3730-3732)cCc>cAc	p.P1244H	ARID1A_ENST00000374152.2_Missense_Mutation_p.P861H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1244H|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1244					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.P1244H(1)	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)		GGGAGTGATCCCTTCATGTCC	0.592000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								103	189					2.52883e-43	2.83078e-43	1	1	0
RP1	6101	broad.mit.edu	37	8	55542223	55542223	+	Silent	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:55542223C>G	ENST00000220676.1	+	4	5929	c.5781C>G	c.(5779-5781)ccC>ccG	p.P1927P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1927					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1927P(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTATCCAACCCATGAATGAGG	0.353000													4	146					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73751240	73751240	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:73751240C>G	ENST00000276033.5	+	6	1860	c.1694C>G	c.(1693-1695)gCt>gGt	p.A565G	SLC16A2_ENST00000587091.1_Missense_Mutation_p.A491G			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	491						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	ATCATCGGGGCTGTAATCCTC	0.522000													4	246					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770231	38770231	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:38770231A>T	ENST00000449082.2	-	15	2441	c.2442T>A	c.(2440-2442)cgT>cgA	p.R814R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	814					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCGGTTGTTACGGTAGTTTT	0.527000													5	129					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448000													7	459					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89929985	89929985	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:89929985C>A	ENST00000378247.3	+	11	1720	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	SPIRE2_ENST00000393062.2_Missense_Mutation_p.N559K	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	559					transport	cytoplasm|cytoskeleton	actin binding	p.N559K(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TTTTGCAGAACAAGGAGCTCT	0.617000													13	26					6.72482e-11	7.2832e-11	1	1	0
C1orf111	284680	broad.mit.edu	37	1	162344057	162344057	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:162344057G>A	ENST00000367935.4	-	3	646	c.567C>T	c.(565-567)tgC>tgT	p.C189C	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	189										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GGTACATGCGGCAGCAGGCCA	0.582000													5	340					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163790	151163790	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:151163790C>T	ENST00000282466.3	-	4	3978	c.3979G>A	c.(3979-3981)Gca>Aca	p.A1327T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1327					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGACAGATGCAGGGAAGGTA	0.408000													7	976					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038952	11038952	+	RNA	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:11038952A>T	ENST00000470054.1	-	0	1251									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGATAATGAAAATGATGACTC	0.423000													50	1010					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95093560	95093560	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:95093560G>A	ENST00000371501.4	-	42	4796	c.4674C>T	c.(4672-4674)taC>taT	p.Y1558Y	MYOF_ENST00000371502.4_Silent_p.Y1577Y|MYOF_ENST00000359263.4_Silent_p.Y1558Y|MYOF_ENST00000358334.5_Silent_p.Y1545Y			Q9NZM1	MYOF_HUMAN	myoferlin	1558	C2 5.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.Y1558Y(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCGAACAATGTAAATCCTAA	0.547000													4	72					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135370277	135370277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:135370277C>T	ENST00000354042.4	-	14	2287	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	533						integral to plasma membrane	sodium:sulfate symporter activity	p.C533Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAGGCTGCACAGGATGGG	0.612000													41	377					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97586995	97586995	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:97586995A>T	ENST00000369261.4	+	11	2064		c.e11-1		KLHL32_ENST00000544166.1_Splice_Site|KLHL32_ENST00000539200.1_Splice_Site|KLHL32_ENST00000536676.1_Splice_Site	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32											breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CCTCTTTTGTAGGTACTGGAT	0.383000													5	152					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582323	179582323	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:179582323G>A	ENST00000589042.1	-	87	25502	c.25278C>T	c.(25276-25278)caC>caT	p.H8426H	TTN_ENST00000342992.6_Silent_p.H7182H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.H8109H|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8109	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H7182H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCCCTATGTGGCTCTGGT	0.423000													25	49					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153274993	153274993	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:153274993A>G	ENST00000290722.1	-	5	672	c.620T>C	c.(619-621)aTc>aCc	p.I207T		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	207					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.I207T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCGGTGTGGATGATGATGAC	0.483000													40	368					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379256	57379256	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57379256C>T	ENST00000403558.1	+	6	1591	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	SERPING1_ENST00000378323.4_Missense_Mutation_p.R371C|SERPING1_ENST00000378324.2_Missense_Mutation_p.R314C|SERPING1_ENST00000340687.6_Intron|SERPING1_ENST00000278407.4_Missense_Mutation_p.R366C	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	366					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTGAAACATCGTCTTGAAGA	0.493000													20	463					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31204790	31204790	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:31204790A>T	ENST00000458591.2	+	25	2132		c.e25-1		RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000541123.1_Splice_Site|SCFD1_ENST00000421551.3_Splice_Site|SCFD1_ENST00000544052.2_Splice_Site|SCFD1_ENST00000396629.2_Splice_Site	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1						post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GTTTTGTTTTAGTTGTCACAA	0.264000													4	35					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:44856401A>T	ENST00000326047.4	+	20	2532		c.e20-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTTGTTTTTTAGTTTTGAAAA	0.358000													6	49					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99991267	99991267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:99991267A>T	ENST00000314594.5	+	7	2130		c.e7-1		R3HCC1L_ENST00000298999.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000370584.3_Splice_Site	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		CTTCCTTTCTAGTTATCAGGG	0.378000													6	215					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31594091	31594091	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:31594091G>T	ENST00000319386.3	+	3	1159	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000407970.3_Missense_Mutation_p.D56Y|CCDC129_ENST00000409210.1_5'UTR|CCDC129_ENST00000451887.2_Missense_Mutation_p.D82Y			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	56										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACTTGTAGAAGATTCCAAGCA	0.423000													4	35					0.00198382	0.00203121	1	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732689	37732689	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:37732689G>T	ENST00000330843.4	-	3	978	c.966C>A	c.(964-966)aaC>aaA	p.N322K	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.N174K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.N174K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.N322K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	322					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGTAAACATGGTTCCCATTGA	0.502000													8	1046					0.00307968	0.00314253	1	1	0
CNBP	7555	broad.mit.edu	37	3	128890023	128890023	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:128890023G>A	ENST00000422453.2	-	4	475	c.315C>T	c.(313-315)ggC>ggT	p.G105G	CNBP_ENST00000451728.2_Silent_p.G106G|CNBP_ENST00000500450.2_Silent_p.G88G|CNBP_ENST00000504813.1_Silent_p.G95G|CNBP_ENST00000441626.2_Silent_p.G107G|CNBP_ENST00000502976.1_Silent_p.G98G|CNBP_ENST00000446936.2_Silent_p.G100G	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	105					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G105G(1)		biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GAGCCAGATGGCCTGGTTTGC	0.502000													115	158					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517000													4	310					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21941942	21941942	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:21941942A>T	ENST00000406877.3	-	10	1642	c.1363T>A	c.(1363-1365)Taa>Aaa	p.*455K	CDCA7L_ENST00000356195.5_Nonstop_Mutation_p.*421K|CDCA7L_ENST00000373934.4_Nonstop_Mutation_p.*409K	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	0					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTTCCTCTTAATTGTCTTCT	0.378000													4	78					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52903989	52903989	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:52903989T>A	ENST00000371544.3	-	25	4103	c.3841A>T	c.(3841-3843)Aga>Tga	p.R1281*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1281*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1281					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTTAATACTCTGGAATCAAAG	0.388000													4	202					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ttTTCTTTTTAGGTTGTAGAC	0.398000													6	35					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140954715	140954715	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:140954715T>A	ENST00000253811.6	-	15	1602		c.e15-2		DIAPH1_ENST00000398557.4_Splice_Site|DIAPH1_ENST00000389054.3_Splice_Site|DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site|DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site			O60610	DIAP1_HUMAN	diaphanous-related formin 1						regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTCCAACTAGAGAAAAAA	0.443000													7	389					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32780855	32780855	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:32780855C>T	ENST00000265074.8	+	5	1566	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	NPR3_ENST00000434067.2_Missense_Mutation_p.A192V|NPR3_ENST00000415685.2_Missense_Mutation_p.A192V|NPR3_ENST00000415167.2_Missense_Mutation_p.A408V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	408					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCCATAGATGCCAACGGAGAC	0.517000													54	272					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108127989	108127989	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:108127989A>T	ENST00000228437.5	-	12	2863	c.2404T>A	c.(2404-2406)Taa>Aaa	p.*802K		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	0					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTTTCCTTTTATTTATGTGCA	0.358000													5	152					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523066	31523066	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr18:31523066C>A	ENST00000261592.5	-	9	1802	c.1505G>T	c.(1504-1506)aGa>aTa	p.R502I	NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R283I|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.R428I|NOL4_ENST00000535384.1_Missense_Mutation_p.R217I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	502						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCGGCATTTCTACTCTCACT	0.428000													6	179					0.000274275	0.000284715	1	1	0
IRF9	10379	broad.mit.edu	37	14	24632285	24632285	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:24632285T>A	ENST00000396864.3	+	3	578	c.291T>A	c.(289-291)gtT>gtA	p.V97V	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_5'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	97					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.V97V(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TTAAGGAGGTTCCTGAGAGGG	0.527000													21	280					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14676140	14676140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:14676140C>A	ENST00000437198.2	-	17	1231	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	PARN_ENST00000341484.7_Nonsense_Mutation_p.E303*|PARN_ENST00000420015.2_Nonsense_Mutation_p.E318*|PARN_ENST00000539279.1_Nonsense_Mutation_p.E189*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	364					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGAAAACCTTCGGCACTTTCT	0.423000													4	533					0.014758	0.0149071	1	1	0
C4orf21	55345	broad.mit.edu	37	4	113481887	113481887	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:113481887A>T	ENST00000505019.1	-	19	5086		c.e19+1			NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTGCTTCTTACCATGTATGA	0.338000													5	195					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428000													4	185					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23597394	23597394	+	Silent	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:23597394C>G	ENST00000316902.7	-	10	2000	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	SLC7A8_ENST00000453702.1_Silent_p.L222L|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000529705.2_Silent_p.L320L|SLC7A8_ENST00000422941.2_Silent_p.L201L	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	425					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	p.L425L(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TGATGGGGAACAGCAGGTTGA	0.582000													27	100					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089641	86089641	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:86089641A>T	ENST00000330753.4	+	2	2550	c.1783A>T	c.(1783-1785)Aag>Tag	p.K595*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.K595*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	595					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.K595*(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGGCACCAAGAAGGACAACTC	0.478000													64	87					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802039	170802039	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:170802039A>T	ENST00000436636.2	-	26	3418	c.3074T>A	c.(3073-3075)gTa>gAa	p.V1025E	TNIK_ENST00000475336.1_Missense_Mutation_p.V933E|TNIK_ENST00000284483.8_Missense_Mutation_p.V1017E|TNIK_ENST00000460047.1_Missense_Mutation_p.V962E|TNIK_ENST00000470834.1_Missense_Mutation_p.V988E|TNIK_ENST00000488470.1_Missense_Mutation_p.V970E|TNIK_ENST00000357327.5_Missense_Mutation_p.V996E|TNIK_ENST00000341852.6_Missense_Mutation_p.V941E|TNIK_ENST00000538048.1_Missense_Mutation_p.V977E|TNIK_ENST00000369326.5_Missense_Mutation_p.V1003E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1025	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGGGTTTACATTTACCAC	0.408000													4	134					0	0	1	0	0
FAM122C	159091	broad.mit.edu	37	X	133948799	133948799	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:133948799A>T	ENST00000445123.1	+	3	274		c.e3-1		FAM122C_ENST00000370785.3_Splice_Site|FAM122C_ENST00000414371.2_Splice_Site|FAM122C_ENST00000370784.4_Splice_Site			Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTCTTTTTAGTTTTAATTC	0.338000													18	156					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44696427	44696427	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:44696427A>T	ENST00000281543.5	+	14	1807		c.e14-1		GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)						translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTCCTTTTAGTTTTGATTA	0.343000													3	27					0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37414210	37414210	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:37414210G>C	ENST00000403892.3	-	1	1298	c.564C>G	c.(562-564)ttC>ttG	p.F188L	TST_ENST00000249042.3_Missense_Mutation_p.F188L	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	188	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	p.F188L(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGGTGCCCAGGAACCGCCCTT	0.592000													2	2					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23731091	23731091	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:23731091T>A	ENST00000344962.4	+	4	602	c.513T>A	c.(511-513)acT>acA	p.T171T	FAM221A_ENST00000409653.1_Silent_p.T113T|FAM221A_ENST00000409994.3_Silent_p.T113T|FAM221A_ENST00000409192.3_Silent_p.T171T	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	171																	TAGTGGAAACTAAGCAAGAAA	0.478000													7	388					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189914113	189914113	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:189914113G>A	ENST00000374866.3	-	44	3381	c.3107C>T	c.(3106-3108)cCc>cTc	p.P1036L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1036					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1036L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGAGCCTGGGGGCCCCACAGG	0.458000													10	14					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24629158	24629158	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:24629158C>T	ENST00000558468.1	+	11	1410	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	RNF31_ENST00000382687.3_Silent_p.A844A|RNF31_ENST00000324103.6_Silent_p.A995A|RNF31_ENST00000559275.1_Silent_p.A844A																							CTGGCTATGCCGGCCTGTGCC	0.592000													4	348					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98887143	98887143	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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	86					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34178919	34178919	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:34178919A>T	ENST00000266483.2	+	3	810	c.491A>T	c.(490-492)tAt>tTt	p.Y164F	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	164					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			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTTTTGCGTATTTGATGTGT	0.343000													5	220					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411763	48411763	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:48411763A>T	ENST00000435803.1	+	33	10827		c.e33-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTTTTGGTAGTATATGCGG	0.468000													4	121					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109560	145109560	+	RNA	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:145109560A>T	ENST00000453618.1	+	0	549							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ATTTGGTTTTATGTGAAGCTG	0.418000													7	666					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_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													11	134					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279938	152279938	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:152279938C>G	ENST00000368799.1	-	3	7459	c.7424G>C	c.(7423-7425)gGa>gCa	p.G2475A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2475	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2475A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGTGGGATCCCTGCCTTCC	0.577000									Ichthyosis				123	500					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95775710	95775710	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:95775710A>T	ENST00000272418.2	-	4	562	c.354T>A	c.(352-354)acT>acA	p.T118T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	118					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCTTTTTAGTTCTTTTGC	0.393000													8	139					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681890	30681890	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:30681890T>C	ENST00000376406.3	-	3	854	c.207A>G	c.(205-207)ccA>ccG	p.P69P	MDC1_ENST00000376405.2_Silent_p.P69P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	69	FHA.|Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGAGATAGATGGAAAGGGCA	0.488000								Other conserved DNA damage response genes					4	216					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	700616	700616	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:700616C>G	ENST00000549091.1	+	5	558	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	WDR90_ENST00000293879.4_Missense_Mutation_p.L156V	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	156								p.L156V(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCTGGTCTACCTGAACCGGTG	0.627000													5	13					0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873535	139873535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:139873535G>A	ENST00000224167.2	+	2	280	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Missense_Mutation_p.V69M			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	69					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	p.V69M(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAAGTCTGTGGTGGCCCCTGC	0.672000													11	13					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573941	41573941	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:41573941G>T	ENST00000263253.7	+	31	7445	c.6226G>T	c.(6226-6228)Gcc>Tcc	p.A2076S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2076	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCCTTCACGCCAACCCCCA	0.572000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	267					5.68852e-11	6.18318e-11	1	1	0
LAMTOR4	389541	broad.mit.edu	37	7	99751111	99751111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:99751111G>A	ENST00000441173.1	+	3	208	c.173G>A	c.(172-174)gGc>gAc	p.G58D	LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000341942.5_Missense_Mutation_p.G58D					late endosomal/lysosomal adaptor, MAPK and MTOR activator 4																		CTGCACCGCGGCATGAATGTG	0.637000													4	256					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:100286421A>T	ENST00000395211.2	+	2	88		c.e2-1		TMOD1_ENST00000259365.3_Splice_Site	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453000													5	182					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45904124	45904124	+	Silent	SNP	A	A	G	rs141494672		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:45904124A>G	ENST00000290208.7	-	4	893	c.441T>C	c.(439-441)gaT>gaC	p.D147D	MRPL10_ENST00000414011.1_Silent_p.D147D|MRPL10_ENST00000351111.2_Silent_p.D137D			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	137					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GGTACTTGGAATCCTCCAGGA	0.532000													4	213					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	26988665	26988665	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:26988665A>T	ENST00000443698.1	+	7	636		c.e7-1		IFT74_ENST00000429045.2_Splice_Site|IFT74_ENST00000433700.1_Splice_Site|IFT74_ENST00000380062.5_Splice_Site	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTTGTTTTTAGTTGGTAGAT	0.254000													3	10					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148789117	148789117	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:148789117A>T	ENST00000310053.5	-	7	1009	c.816T>A	c.(814-816)taT>taA	p.Y272*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.Y272*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.Y272*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.Y272*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	272					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTATTGTGTTATAGTATAAGT	0.373000													5	53					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002281	20002281	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:20002281A>T	ENST00000589717.1	+	4	318		c.e4-1		ZNF253_ENST00000355650.4_Splice_Site	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTCTTTTAGTTATGAGTT	0.313000													3	16					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762678	131762678	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:131762678G>T	ENST00000370836.2	-	4	1806	c.1391C>A	c.(1390-1392)gCc>gAc	p.A464D	HS6ST2_ENST00000521489.1_Missense_Mutation_p.A504D|HS6ST2_ENST00000370833.2_Missense_Mutation_p.A358D|HS6ST2_ENST00000370837.1_Missense_Mutation_p.A318D|HS6ST2_ENST00000406696.3_Missense_Mutation_p.A190D	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	464						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TACACTAGAGGCCCTAGTGGT	0.408000													6	328					3.59834e-05	3.76133e-05	1	1	0
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:133948805A>T	ENST00000414371.2	+	4	396	c.223A>T	c.(223-225)Aat>Tat	p.N75Y	FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343000													13	199					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378000													8	113					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95330370	95330370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:95330370C>T	ENST00000271227.6	+	11	1412	c.1310C>T	c.(1309-1311)aCc>aTc	p.T437I	SLC44A3_ENST00000527077.1_Missense_Mutation_p.T369I|SLC44A3_ENST00000467909.1_Missense_Mutation_p.T389I|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Missense_Mutation_p.T357I|SLC44A3_ENST00000529450.1_Missense_Mutation_p.T405I|SLC44A3_ENST00000446120.2_Missense_Mutation_p.T401I	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	437						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CATCAAGGAACCGTTGTGAAA	0.413000													6	497					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	100					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109688314	109688314	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:109688314T>A	ENST00000277225.5	+	3	2410	c.2121T>A	c.(2119-2121)atT>atA	p.I707I	ZNF462_ENST00000457913.1_Silent_p.I707I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	707					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGAGCAAAATTAACCAAACCA	0.458000													5	359					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145623927	145623927	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:145623927T>A	ENST00000349769.3	-	18	1834	c.1740A>T	c.(1738-1740)gaA>gaT	p.E580D		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	580					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.E580D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGTGGAGTCTTCCCGGCTCA	0.682000													4	48					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053792	114053792	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:114053792C>G	ENST00000369422.3	+	6	644	c.644C>G	c.(643-645)cCc>cGc	p.P215R		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	215	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTCATGTATCCCTTGCAGTGG	0.478000													4	39					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99823113	99823113	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:99823113A>T	ENST00000450253.2	-	2	1563	c.39T>A	c.(37-39)aaT>aaA	p.N13K	EIF4E_ENST00000280892.6_Missense_Mutation_p.N33K|EIF4E_ENST00000505992.1_Missense_Mutation_p.N13K|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000504432.1_Missense_Mutation_p.N41K	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	13					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	p.N13K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TAGTCGGGGGATTAGGAGTAG	0.373000													97	139					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280582	117280582	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:117280582C>A	ENST00000278935.3	+	30	4144	c.3997C>A	c.(3997-3999)Caa>Aaa	p.Q1333K	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1333					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.Q1333K(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CACGTCCACCCAATGGGCCTG	0.617000													92	179					9.50263e-46	1.06771e-45	1	1	0
CD209	30835	broad.mit.edu	37	19	7810698	7810698	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:7810698A>G	ENST00000315599.7	-	4	476	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R	CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000315591.8_Missense_Mutation_p.W128R|CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000301357.8_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.W108R|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000394173.4_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	152	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.W152R(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCAGGTCAGCTCC	0.557000													6	669					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284047	152284047	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:152284047G>A	ENST00000368799.1	-	3	3350	c.3315C>T	c.(3313-3315)gaC>gaT	p.D1105D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1105	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)			CCCCTGACCAGTCACGTGCGG	0.577000									Ichthyosis				5	697					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276901	75276901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:75276901C>A	ENST00000546196.1	-	2	1665	c.13G>T	c.(13-15)Gag>Tag	p.E5*	BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E32*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E52*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E52*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E80*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E34*|BCAR1_ENST00000162330.5_Nonsense_Mutation_p.E34*			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	34	SH3.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.E34*(4)|p.E80*(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGTCCTGCTCCAGCACCGTC	0.632000													15	30					4.14922e-12	4.54294e-12	1	1	0
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383000													7	248					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47289515	47289515	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:47289515A>C	ENST00000467728.1	+	7	2278	c.1040A>C	c.(1039-1041)aAt>aCt	p.N347T	NR1H3_ENST00000395397.3_Missense_Mutation_p.N302T|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.N287T|NR1H3_ENST00000405576.1_Missense_Mutation_p.N242T|NR1H3_ENST00000481889.2_Missense_Mutation_p.N366T|NR1H3_ENST00000407404.1_Missense_Mutation_p.N287T|NR1H3_ENST00000441012.2_Missense_Mutation_p.N347T|NR1H3_ENST00000527949.1_Missense_Mutation_p.N196T			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	347	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.N347T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGGGCCATGAATGAGCTGCAA	0.537000													20	78					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	51					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684103	74684103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:74684103C>A	ENST00000334011.5	+	7	1286	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	356	ZP.					nuclear envelope	calcium ion binding	p.C356*(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CGGTGACCTGCGAGTTTCCAC	0.552000													17	164					0.00121646	0.00125408	1	1	0
P2RY13	53829	broad.mit.edu	37	3	151045862	151045862	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:151045862G>T	ENST00000325602.5	-	2	1001	c.982C>A	c.(982-984)Cta>Ata	p.L328I	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	328						integral to membrane|plasma membrane		p.L307I(1)|p.L328I(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATACATGGTAGCTTTTCTGTG	0.363000													78	129					1.24833e-42	1.39219e-42	1	1	0
TRAPPC6B	122553	broad.mit.edu	37	14	39621045	39621045	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:39621045T>A	ENST00000330149.5	-	5	578		c.e5-2		TRAPPC6B_ENST00000557764.1_Splice_Site|TRAPPC6B_ENST00000347691.5_Splice_Site	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TGCTAAATACTAAAAGGAAAA	0.299000													6	73					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436252	11436252	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:11436252A>T	ENST00000222120.3	-	5	742	c.482T>A	c.(481-483)tTc>tAc	p.F161Y	RAB3D_ENST00000589655.1_Missense_Mutation_p.F161Y|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	161					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.F161Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGCTTCAAAGAACTCGAAACC	0.527000													97	151					0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591160	43591160	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr18:43591160A>T	ENST00000409746.5	-	5	412	c.341T>A	c.(340-342)cTa>cAa	p.L114Q	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	114						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTTCGTTGTAGTTTTTGCTT	0.413000													6	232					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744273	135744273	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:135744273C>T	ENST00000375845.3	-	7	2199	c.2169G>A	c.(2167-2169)atG>atA	p.M723I	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M740I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M610I	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTGGGCATTTCATATGTGTTT	0.388000													8	143					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42815128	42815128	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:42815128C>T	ENST00000372980.3	-	1	1090	c.218G>A	c.(217-219)gGc>gAc	p.G73D	JPH2_ENST00000342272.3_Missense_Mutation_p.G73D	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	73	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTCTCTATGCCCAGCCCATG	0.597000													4	164					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11							CUL4 RING ubiquitin ligase complex	protein binding										TGCTTCTCTTAGTTCATATCT	0.463000													6	280					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3351201	3351201	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:3351201G>A	ENST00000602557.1	-	12	1950	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	CSMD1_ENST00000400186.3_Silent_p.D465D|CSMD1_ENST00000602723.1_Silent_p.D465D|CSMD1_ENST00000537824.1_Silent_p.D464D|CSMD1_ENST00000539096.1_Silent_p.D464D|CSMD1_ENST00000520002.1_Silent_p.D465D|CSMD1_ENST00000542608.1_Silent_p.D464D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	465	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTCAGGGTGTCATAGCCTC	0.483000													7	103					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33358779	33358779	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:33358779T>G	ENST00000334528.9	-	1	1306	c.1307A>C	c.(1306-1308)gAg>gCg	p.E436A	FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E436A|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	186	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.E436A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTAGCGACTCCTTCTCATG	0.488000													10	34					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482488	76482488	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:76482488G>T	ENST00000389840.5	-	45	7001	c.6877C>A	c.(6877-6879)Cgc>Agc	p.R2293S	DNAH17_ENST00000585328.1_Missense_Mutation_p.R2302S|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17									p.R2302S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACCCAAAGCGCAACTTGTCC	0.582000													69	129					5.40308e-56	6.13986e-56	1	1	0
RD3	343035	broad.mit.edu	37	1	211654589	211654589	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:211654589C>T	ENST00000367002.4	-	2	1332	c.169G>A	c.(169-171)Ggt>Agt	p.G57S	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	57			G -> V (in an individual with cone-rod degeneration).		response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TAGTCCACACCGGTGCAGACC	0.612000													5	162					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095413	103095413	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:103095413C>A	ENST00000295269.4	+	2	829	c.372C>A	c.(370-372)gtC>gtA	p.V124V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	124					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.V124V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCCTCCGGTCATGGACTCCA	0.612000													119	195					7.93641e-56	8.98462e-56	1	1	0
RTF1	23168	broad.mit.edu	37	15	41763442	41763442	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458000													5	367					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374871	113374871	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:113374871A>T	ENST00000316407.4	-	7	6068	c.5658T>A	c.(5656-5658)atT>atA	p.I1886I	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.I1886I	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1886					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTGGTGTTAATTGCACCTA	0.393000													5	210					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26222442	26222442	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:26222442C>T	ENST00000335473.7	+	14	3012	c.2762C>T	c.(2761-2763)gCg>gTg	p.A921V	MYO18B_ENST00000407587.2_Missense_Mutation_p.A921V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A921V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	921	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACTCTTTGCGGCTGTGGTC	0.537000													5	569					0	0	1	0	0
CTXN3	613212	broad.mit.edu	37	5	126993328	126993328	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:126993328A>T	ENST00000379445.3	+	3	666	c.115A>T	c.(115-117)Att>Ttt	p.I39F	CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	39						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCTGTTGTTTATTTTCTTGGG	0.483000													6	305					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43515440	43515440	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:43515440G>A	ENST00000265351.7	-	19	2275	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	689					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	p.L689L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ACATCTGACAGCACTCTGAAG	0.463000													33	103					0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128413819	128413819	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:128413819A>G	ENST00000249389.2	-	4	810	c.811T>C	c.(811-813)Tac>Cac	p.Y271H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	271					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TTGACCATGTACATGGCGAAG	0.532000													4	196					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													11	162					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136602160	136602160	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:136602160A>T	ENST00000264156.2	-	16	2364	c.2304T>A	c.(2302-2304)aaT>aaA	p.N768K		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	768					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTCTTTTTTTATTTATAAGTT	0.428000													5	107					0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50080990	50080990	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:50080990C>T	ENST00000298288.6	+	4	1345	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	LRR1_ENST00000318317.4_Missense_Mutation_p.S100L	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	341										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATATGGCTCTCATATCATTCC	0.328000													5	21					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70144085	70144085	+	Silent	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:70144085A>G	ENST00000370958.1	+	2	214	c.24A>G	c.(22-24)ggA>ggG	p.G8G	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						centrosome|focal adhesion|nucleolus	protein binding	p.G8G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAATAAGGGGAAGGAATCCCC	0.383000													5	10					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78337278	78337278	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:78337278A>T	ENST00000466548.1	+	8	1657		c.e8-1		SLAIN1_ENST00000314070.5_Splice_Site|SLAIN1_ENST00000267219.8_Splice_Site|SLAIN1_ENST00000418532.1_Splice_Site|SLAIN1_ENST00000488699.1_Splice_Site|SLAIN1_ENST00000358679.3_Splice_Site|SLAIN1_ENST00000351546.3_Splice_Site	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1											breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		GTCTCTTTTTAGTTTTCTTCA	0.408000													5	93					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966265	41966265	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:41966265T>C	ENST00000298919.7	+	10	1292	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L	PDZRN4_ENST00000402685.2_Silent_p.L562L|PDZRN4_ENST00000539469.2_Silent_p.L304L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	562	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGATGAAAGCTTGCGAAATGA	0.493000													3	320					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121724198	121724198	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:121724198T>A	ENST00000273691.3	-	3	377	c.272A>T	c.(271-273)gAc>gTc	p.D91V	ILDR1_ENST00000462014.1_Missense_Mutation_p.D103V|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.D91V|ILDR1_ENST00000393631.1_Missense_Mutation_p.D91V	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	91	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity	p.D91V(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCGTTGCAGTCATTGGATGG	0.577000													23	86					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000346528.5_Intron|RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000399922.2_Splice_Site	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398000													4	50					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311500	103311500	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:103311500A>T	ENST00000233969.2	+	7	1657		c.e7-1		SLC9A2_ENST00000469286.1_Splice_Site	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTCTGTTTTAGTTGTTTGAT	0.353000													10	278					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10225224	10225224	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:10225224T>C	ENST00000556468.1	+	13	2222	c.2195T>C	c.(2194-2196)cTg>cCg	p.L732P	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L732P|P2RY11_ENST00000321826.4_Missense_Mutation_p.L312P|PPAN-P2RY11_ENST00000428358.1_3'UTR					peter pan homolog (Drosophila)									p.L312P(1)|p.L732P(1)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTCATGCCCCTGGCCTTCTGT	0.672000													21	49					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126783560	126783560	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:126783560G>T	ENST00000373615.4	+	4	1649	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	304						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G304C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAAAAGACGGGCCTCACCAA	0.632000													22	29					2.32416e-17	2.56341e-17	1	1	0
BRWD3	254065	broad.mit.edu	37	X	79932277	79932277	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:79932277A>T	ENST00000373275.4	-	41	5456	c.5240T>A	c.(5239-5241)aTt>aAt	p.I1747N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1747										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTGTTTTAATTCGAGGCAG	0.413000													4	190					0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121221557	121221557	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:121221557T>A	ENST00000353487.2	-	5	814		c.e5-2			NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3							integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCAAGAACTAGAGAAAGAA	0.378000													4	46					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841464	100841464	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:100841464C>A	ENST00000369208.3	-	11	2251	c.1469G>T	c.(1468-1470)tGg>tTg	p.W490L	SIM1_ENST00000262901.4_Missense_Mutation_p.W490L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	490	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.W490L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGAGAGCCCCACCAGGGCTC	0.607000													25	53					9.04412e-07	9.55365e-07	1	1	0
ANKFY1	51479	broad.mit.edu	37	17	4085547	4085547	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:4085547G>A	ENST00000341657.4	-	15	2085	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	ANKFY1_ENST00000574367.1_Missense_Mutation_p.P685S|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P726S|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	684						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTCTCATCTGGCACAGACATG	0.567000													4	424					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152497182	152497182	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:152497182T>A	ENST00000397345.3	-	61	8576		c.e61-2		NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACTTGAACTAAAAGAAGAA	0.398000													4	154					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178576587	178576587	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:178576587A>T	ENST00000286063.5	-	13	2380	c.2063T>A	c.(2062-2064)aTt>aAt	p.I688N	PDE11A_ENST00000449286.2_Missense_Mutation_p.I330N|PDE11A_ENST00000389683.3_Missense_Mutation_p.I244N|AC012499.1_ENST00000450227.1_RNA|AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000358450.4_Missense_Mutation_p.I438N|PDE11A_ENST00000409504.1_Missense_Mutation_p.I330N|PDE11A_ENST00000497003.1_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	688	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTCGGTCAGAATGTCTTGAAA	0.498000									Primary Pigmented Nodular Adrenocortical Disease, Familial				49	167					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265658	198265658	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:198265658T>A	ENST00000335508.5	-	18	2590	c.2499A>T	c.(2497-2499)ttA>ttT	p.L833F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	833					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGTATCAACTAACTAAAAAG	0.328000			Mis		myelodysplastic syndrome								3	37					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913051	77913051	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:77913051C>A	ENST00000321110.1	-	2	1162	c.867G>T	c.(865-867)tgG>tgT	p.W289C		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	289							nucleic acid binding|zinc ion binding	p.W289C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGGAACCACCATCCTGCCC	0.468000													9	29					0.00829132	0.00840336	1	1	0
KIF19	124602	broad.mit.edu	37	17	72343936	72343936	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:72343936C>T	ENST00000389916.4	+	9	1083	c.945C>T	c.(943-945)agC>agT	p.S315S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	315					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S315S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGGAAACAGCCGCACAGTGA	0.612000													6	10					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779884	64779884	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:64779884G>C	ENST00000422803.1	+	2	1590	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	AFTPH_ENST00000409933.1_Missense_Mutation_p.D426H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D426H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D57H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D426H			Q6ULP2	AFTIN_HUMAN	aftiphilin	426					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.D426H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GACTTGCAATGATATCAATGA	0.378000													28	225					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70184559	70184559	+	Splice_Site	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:70184559G>A	ENST00000253925.7	+	13	1786	c.1571_splice	c.e13+1	p.G524_splice	PPFIA1_ENST00000389547.3_Splice_Site_p.G524_splice|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	524					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.G524D(1)		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)			CTTCATCATGGGTATGGTATT	0.478000													16	44					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55862744	55862744	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:55862744C>T	ENST00000422046.2	-	2	473	c.192G>A	c.(190-192)agG>agA	p.R64R	CES1_ENST00000361503.4_Silent_p.R64R|CES1_ENST00000360526.3_Silent_p.R65R			P23141	EST1_HUMAN	carboxylesterase 1	64				R -> G (in Ref. 18; CAA37147).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTGGAGTAAACCTCAGGGGTC	0.542000													11	203					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925009	70925009	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:70925009A>T	ENST00000603540.1	+	2	1051	c.793A>T	c.(793-795)Aat>Tat	p.N265Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.N265Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	265	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.N265Y(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAATCAAGGAAATGTTTTCCC	0.368000													76	83					0	0	1	0	0
MIR92A2	407049	broad.mit.edu	37	X	133303638	133303638	+	RNA	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:133303638G>A	ENST00000385299.1	-	0	4					NR_029509.1																						CCCACCCAGGGATGAATGGGC	0.433000													15	256					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181750568	181750568	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:181750568G>A	ENST00000526775.1	+	38	5381	c.5216G>A	c.(5215-5217)cGc>cAc	p.R1739H	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1758H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1739H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1709H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1758H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1365H|CACNA1E_ENST00000358338.5_Intron	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1758	EF-hand.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCAGTGGCCGCATCCATTAC	0.557000													3	34					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469656	21469656	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:21469656T>C	ENST00000222584.3	+	3	1091	c.873T>C	c.(871-873)gaT>gaC	p.D291D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	291					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CTACTGCTGATAGTGGGACTT	0.522000													3	86					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12837682	12837682	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:12837682G>A	ENST00000380668.5	+	5	715	c.587G>A	c.(586-588)aGg>aAg	p.R196K	PRPS2_ENST00000398491.2_Missense_Mutation_p.R199K	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	196					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CACAAAGAGAGGAAGAAGGCG	0.502000													7	734					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921685	5921685	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:5921685A>T	ENST00000399933.3	-	8	4310	c.4311T>A	c.(4309-4311)acT>acA	p.T1437T	KIAA2026_ENST00000381461.2_Silent_p.T1407T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1437										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTTGCTGTTTAGTTGGAGTAT	0.368000													4	110					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300402	21300402	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:21300402C>A	ENST00000596143.1	+	5	1257	c.932C>A	c.(931-933)tCt>tAt	p.S311Y	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S416Y(1)|p.S311Y(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GGAGAGAAATCTTACAAATGT	0.333000													9	20					1.12685e-05	1.18616e-05	1	1	0
TMCO4	255104	broad.mit.edu	37	1	20009748	20009748	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:20009748C>G	ENST00000294543.6	-	16	1931	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Missense_Mutation_p.G524R	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	564						integral to membrane		p.G564R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GATATGGGACCCTGGGTTTGC	0.667000													20	34					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990940	47990940	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:47990940T>A	ENST00000371741.4	-	2	1323	c.1157A>T	c.(1156-1158)aAg>aTg	p.K386M		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	386					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.K386M(1)		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)			CAGGAGAGTCTTGGGGTAGAT	0.512000													5	107					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418000													4	143					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	948634	948634	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:948634C>G	ENST00000217260.4	-	2	323	c.227G>C	c.(226-228)gGg>gCg	p.G76A	RSPO4_ENST00000400634.2_Missense_Mutation_p.G76A	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	76					Wnt receptor signaling pathway	extracellular region	heparin binding	p.G76A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCGAAGTACCCAGGGGGACA	0.602000													169	333					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67576514	67576514	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:67576514A>G	ENST00000540839.3	+	14	2105	c.1885A>G	c.(1885-1887)Acc>Gcc	p.T629A	FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	613	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCCAAGCCCTACCCATACCAC	0.542000													8	339					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155546088	155546088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:155546088C>A	ENST00000392845.2	-	6	1941	c.1561G>T	c.(1561-1563)Gga>Tga	p.G521*	SLC33A1_ENST00000359479.3_Nonsense_Mutation_p.G521*	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	521					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.G521*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAACCAAATCCAATGAAAACA	0.338000													19	33					2.94398e-08	3.15427e-08	1	1	0
OR2M7	391196	broad.mit.edu	37	1	248487519	248487519	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:248487519T>A	ENST00000317965.2	-	1	380	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATAAGACATAACAGCCAAC	0.448000													7	648					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49726541	49726541	+	Splice_Site	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:49726541A>G	ENST00000451037.2	-	6	1575		c.e6+1		CA10_ENST00000570565.1_Splice_Site|CA10_ENST00000442502.2_Splice_Site|CA10_ENST00000340813.6_Splice_Site|CA10_ENST00000285273.4_Splice_Site|CA10_ENST00000571918.1_Splice_Site	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development			p.?(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)			AACCAAACTTACTTTTATATG	0.383000													17	12					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369264	139369264	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:139369264T>C	ENST00000313050.7	-	1	2877	c.2804A>G	c.(2803-2805)gAg>gGg	p.E935G	SEC16A_ENST00000371706.3_Missense_Mutation_p.E757G|SEC16A_ENST00000431893.2_Missense_Mutation_p.E757G|SEC16A_ENST00000290037.6_Missense_Mutation_p.E757G	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	757	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.E935G(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AACCAAGTTCTCTGGAACTGG	0.473000													37	58					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517000													5	67					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789455	34789455	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:34789455A>T	ENST00000192788.5	+	2	241	c.70A>T	c.(70-72)Aaa>Taa	p.K24*	UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.K24*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	24								p.K24*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCCCCAGACAAAATCAACCT	0.453000													34	61					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99941139	99941139	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:99941139G>A	ENST00000455616.1	-	14	1643	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S	SYTL4_ENST00000276141.6_Missense_Mutation_p.P433S|SYTL4_ENST00000454200.2_Missense_Mutation_p.P435S|SYTL4_ENST00000372989.1_Missense_Mutation_p.P433S|SYTL4_ENST00000263033.5_Missense_Mutation_p.P433S|SYTL4_ENST00000372981.1_3'UTR			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	433	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.P433S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAGATTCTGGGATCTCATAC	0.453000													8	75					0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111071196	111071196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:111071196G>T	ENST00000379671.3	-	4	276	c.12C>A	c.(10-12)taC>taA	p.Y4*	NREP_ENST00000419114.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000257435.7_Nonsense_Mutation_p.Y4*|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000447165.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000453526.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509979.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000515855.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000509427.1_Nonsense_Mutation_p.Y4*|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000455559.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000508870.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000450761.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000395634.3_Nonsense_Mutation_p.Y48*|NREP_ENST00000446294.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509025.1_Nonsense_Mutation_p.Y4*	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	4						cytoplasm		p.Y4*(1)|p.Y48*(1)									AGAGTTCTGGGTAATAAACCT	0.403000													21	147					1.37657e-19	1.52387e-19	1	1	0
BCAR1	9564	broad.mit.edu	37	16	75276902	75276902	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:75276902C>A	ENST00000546196.1	-	2	1664	c.12G>T	c.(10-12)ctG>ctT	p.L4L	BCAR1_ENST00000542031.2_Silent_p.L31L|BCAR1_ENST00000420641.3_Silent_p.L51L|BCAR1_ENST00000538440.2_Silent_p.L33L|BCAR1_ENST00000535626.2_Silent_p.L33L|BCAR1_ENST00000393422.2_Silent_p.L51L|BCAR1_ENST00000418647.3_Silent_p.L79L|BCAR1_ENST00000393420.6_Silent_p.L33L|BCAR1_ENST00000162330.5_Silent_p.L33L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	33	SH3.			NHL -> SVP (in Ref. 4; BAB55230).	actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.L33L(2)|p.E34*(2)|p.L79L(1)|p.E80*(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGCTCCAGCACCGTCA	0.632000													16	27					2.35188e-11	2.56569e-11	1	1	0
NCL	4691	broad.mit.edu	37	2	232323744	232323744	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:232323744A>T	ENST00000322723.4	-	7	1373	c.1133T>A	c.(1132-1134)cTa>cAa	p.L378Q		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	378	RRM 1.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGTTTCTCTAGTTTAATTTC	0.378000													7	128					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363000													4	94					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921595	130921595	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:130921595C>T	ENST00000261655.4	-	10	2010	c.1847G>A	c.(1846-1848)gGt>gAt	p.G616D	RIMBP2_ENST00000536002.1_Missense_Mutation_p.G524D|RIMBP2_ENST00000535703.1_Missense_Mutation_p.G524D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	616	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCGTGGGGACCCAGGTGCTC	0.667000													3	17					0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35449946	35449946	+	RNA	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:35449946G>C	ENST00000430846.1	+	0	2796																											CAGTGTCCCAGAAGCCCAGTC	0.403000													42	100					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822456	72822456	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:72822456A>T	ENST00000268489.5	-	10	10391	c.9719T>A	c.(9718-9720)gTa>gAa	p.V3240E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V2326E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3240					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTCTCCTTTACTTTCTCACT	0.607000													6	520					0	0	1	0	0
XBP1	7494	broad.mit.edu	37	22	29193181	29193181	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:29193181A>C	ENST00000216037.6	-	3	409	c.337T>G	c.(337-339)Ttg>Gtg	p.L113V	XBP1_ENST00000344347.5_Missense_Mutation_p.L113V|XBP1_ENST00000403532.3_Missense_Mutation_p.L118V|XBP1_ENST00000405219.3_Missense_Mutation_p.L63V	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	113	Leucine-zipper.				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TTTTCTAGCAAAAGTTTTTGG	0.383000													3	48					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140948382	140948382	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:140948382G>A	ENST00000277549.5	+	27	4049	c.1480G>A	c.(1480-1482)Gtc>Atc	p.V494I	CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1299I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1299I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1298					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATATTTGCCGTCATTGCGGT	0.493000													5	675					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13776512	13776512	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:13776512G>T	ENST00000380567.1	+	16	2051	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	OFD1_ENST00000380550.3_Missense_Mutation_p.K493N|OFD1_ENST00000340096.6_Missense_Mutation_p.K533N|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	533					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.K533N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTTCTGTAAAGAGTTTAACTA	0.343000													7	61					4.68919e-08	4.9885e-08	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109697002	109697002	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:109697002G>C	ENST00000465301.2	+	3	3403	c.3157G>C	c.(3157-3159)Ggc>Cgc	p.G1053R	RGAG1_ENST00000540313.1_Missense_Mutation_p.G1053R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1053										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGATGTGGCATGGGTAT	0.532000													6	339					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121437700	121437700	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:121437700C>A	ENST00000260197.7	+	22	3230	c.3101C>A	c.(3100-3102)gCc>gAc	p.A1034D	SORL1_ENST00000525532.1_5'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1034	EGF-like.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.A1034D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGCCCAAGGCCAACAACAGT	0.567000													13	110					0.000219431	0.000228574	1	1	0
MUC16	94025	broad.mit.edu	37	19	9015723	9015723	+	Silent	SNP	C	C	T	rs144233170	by1000genomes	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:9015723C>T	ENST00000397910.4	-	29	38303	c.38100G>A	c.(38098-38100)ccG>ccA	p.P12700P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12702	SEA 5.				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						TGAGGGTGAACGGCACCAGGA	0.468000													11	1357					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154278145	154278145	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:154278145G>A	ENST00000285873.7	-	23	3275	c.3200C>T	c.(3199-3201)tCa>tTa	p.S1067L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1067					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.S1067L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTTCTAAGTGATGCCGCATC	0.478000													4	65					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907356	12907356	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:12907356C>T	ENST00000317869.6	-	2	1012	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.G263R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGTCATCCCCCTGATCTTCA	0.502000													120	344					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38163910	38163910	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:38163910G>A	ENST00000346219.3	+	36	5172	c.5151G>A	c.(5149-5151)ccG>ccA	p.P1717P	DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000308059.6_3'UTR	NM_007337.2	NP_031363.2	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	0					negative regulation of cell proliferation	cytoplasm		p.P1717P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTGAGGCTCCGCCCCAGCCCT	0.612000													47	19					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428000			T	RET	papillary thyroid								8	639					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134741	114134741	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:114134741A>T	ENST00000259335.4	-	43	5029	c.5030T>A	c.(5029-5031)tTa>tAa	p.L1677*	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.L1499*	NM_001080398.1	NP_001073867.1			KIAA0368									p.L1677*(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTCGGTCCATAAATTACATTC	0.398000													109	206					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:14316410T>A	ENST00000545643.1	-	3	528		c.e3-2		RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2							endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398000													11	139					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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	329					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30556225	30556225	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:30556225C>G	ENST00000217299.3	+	1	421	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	83						integral to membrane		p.L83V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCCTACTACCTGCAGAATCA	0.622000													24	84					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216964913	216964913	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:216964913A>T	ENST00000454545.1	+	4	868	c.542A>T	c.(541-543)tAc>tTc	p.Y181F	TMEM169_ENST00000295658.4_Missense_Mutation_p.Y181F|TMEM169_ENST00000437356.2_Missense_Mutation_p.Y181F|TMEM169_ENST00000406027.2_Missense_Mutation_p.Y181F	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	181						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTCTTTCTACTACGGCACT	0.507000													16	1594					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910566	59910566	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:59910566G>A	ENST00000396065.1	+	3	577	c.129G>A	c.(127-129)gaG>gaA	p.E43E	GCNT3_ENST00000560585.1_Silent_p.E43E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	43					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.E43E(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGTCTGGAGTCCAGGGAAT	0.488000													56	58					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462356	66462356	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:66462356G>A	ENST00000404260.3	+	29	7666	c.7358G>A	c.(7357-7359)cGa>cAa	p.R2453Q	MAST4_ENST00000403625.2_Missense_Mutation_p.R2450Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R2256Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R2261Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R2271Q			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2453						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R2453Q(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGTTCTTTCCGATCCACGGCC	0.632000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	1	0	0
POC1B	282809	broad.mit.edu	37	12	89890946	89890946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:89890946A>T	ENST00000313546.3	-	3	401		c.e3+1		POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Splice_Site|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000378528.2_Splice_Site|POC1B_ENST00000541909.1_Intron	NM_172240.2	NP_758440.1			POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTTTCTCTTACTTATCAGGA	0.453000													5	241					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					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)	TTTAGTTGTTACATTATATGC	0.348000			T	ETV1	prostate								12	131					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533534	169533534	+	Splice_Site	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:169533534G>A	ENST00000449804.2	+	1	618	c.574_splice	c.e1+1	p.P191_splice	FOXI1_ENST00000306268.6_Splice_Site_p.P191_splice	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	191					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACGACCCGGGTAAGGAGG	0.592000									Pendred syndrome				3	139					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219691750	219691750	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:219691750G>T	ENST00000439262.2	-	10	1089	c.994C>A	c.(994-996)Cga>Aga	p.R332R	PRKAG3_ENST00000545803.1_Silent_p.R173R|PRKAG3_ENST00000529249.1_Silent_p.R357R|PRKAG3_ENST00000392098.3_Silent_p.S341S	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	357	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAAGTCTCGGAATGTGCCG	0.592000													4	343					0.150653	0.151665	1	1	0
DNAH7	56171	broad.mit.edu	37	2	196720569	196720569	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:196720569A>T	ENST00000312428.6	-	45	8661	c.8561T>A	c.(8560-8562)tTa>tAa	p.L2854*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2854	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGTTTATTTAATTCAAGTGT	0.418000													6	626					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495177	32495177	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:32495177A>T	ENST00000266088.4	+	12	1538	c.1288A>T	c.(1288-1290)Atc>Ttc	p.I430F	SLC5A1_ENST00000543737.1_Missense_Mutation_p.I303F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	430					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CAGGTTGTTTATCCTGGTGCT	0.368000													6	364					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670151	158670151	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:158670151G>A	ENST00000359610.2	-	1	335	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACATCTGCAGGAGACAACCA	0.473000													4	280					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43171608	43171608	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:43171608C>T	ENST00000252050.4	+	20	4126	c.4042C>T	c.(4042-4044)Cgc>Tgc	p.R1348C	CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C|CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1348					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGGTTTTGCGCCACGAGCA	0.582000													7	970					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328000													6	212					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945210	151945210	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:151945210A>T	ENST00000355193.2	-	14	2527	c.2309T>A	c.(2308-2310)tTt>tAt	p.F770Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.F770Y					lysine (K)-specific methyltransferase 2C									p.F770Y(2)									TGATGATGAAAATGATGACTC	0.423000													4	434					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543778	46543778	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:46543778A>T	ENST00000242848.4	-	14	3249	c.2901T>A	c.(2899-2901)atT>atA	p.I967I	ZC3H13_ENST00000282007.3_Silent_p.I967I|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	967	Lys-rich.			I -> K (in Ref. 3; CAD38544).			nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTTTTTCTTAATTGGTTTCT	0.368000													6	226					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464690	141464690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:141464690A>T	ENST00000247879.2	+	1	794	c.732A>T	c.(730-732)ttA>ttT	p.L244F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	244					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttctcttcttactttactttc	0.418000													5	132					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42560232	42560232	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:42560232T>A	ENST00000389834.4	-	3	470		c.e3-2		TMEM87A_ENST00000568432.1_Splice_Site|TMEM87A_ENST00000448392.1_Splice_Site|TMEM87A_ENST00000307216.6_Splice_Site	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A							integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CTCCATCAACTACAAAAGAAG	0.338000													5	70					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266437	39266437	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:39266437C>T	ENST00000280481.7	+	1	5172	c.4956C>T	c.(4954-4956)gaC>gaT	p.D1652D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1652					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCTGTTGACAACAGTGTCC	0.478000													13	143					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135622826	135622826	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:135622826C>T	ENST00000520727.1	-	5	784	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	ZFAT_ENST00000429442.2_Missense_Mutation_p.R162Q|ZFAT_ENST00000377838.3_Missense_Mutation_p.R174Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000523399.1_Intron	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.R162Q(1)|p.R174Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTTCTGTGACCGTGGTCTTTT	0.448000													4	443					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745083	73745083	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:73745083C>T	ENST00000200181.3	+	27	3460	c.3273C>T	c.(3271-3273)caC>caT	p.H1091H	ITGB4_ENST00000450894.3_Silent_p.H1091H|ITGB4_ENST00000579662.1_Silent_p.H1091H|ITGB4_ENST00000449880.2_Silent_p.H1091H|ITGB4_ENST00000339591.3_Silent_p.H1091H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1091					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.H1091H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGGCCCACCTGGGCCAGC	0.642000													4	13					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76430098	76430098	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:76430098T>A	ENST00000388942.3	+	3	365	c.89T>A	c.(88-90)gTa>gAa	p.V30E		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	30						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCCAACAAGTAGACGAAGAA	0.527000													6	444					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063711	54063711	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:54063711G>A	ENST00000338662.5	-	3	1314	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	ATP5G2_ENST00000602871.1_Silent_p.L21L|ATP5G2_ENST00000549164.1_Silent_p.L21L|ATP5G2_ENST00000394349.3_Silent_p.L78L	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	21					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGACGGCTCAGCAGCTGTGAG	0.527000													5	226					0	0	1	0	0
CHPT1	56994	broad.mit.edu	37	12	102107933	102107933	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:102107933T>A	ENST00000549872.1	+	2	529	c.339T>A	c.(337-339)atT>atA	p.I113I	CHPT1_ENST00000229266.3_Silent_p.I113I|CHPT1_ENST00000550385.1_3'UTR			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	113					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	p.I113I(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGGATGCTATTGATGGGAAAC	0.383000													77	160					0	0	1	0	0
PIGM	93183	broad.mit.edu	37	1	160000335	160000335	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:160000335T>A	ENST00000368090.2	-	1	1448	c.1195A>T	c.(1195-1197)Atc>Ttc	p.I399F		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	399					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAACAATTGATAAGAAGAAAG	0.403000													7	215					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69849587	69849587	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:69849587T>A	ENST00000395889.2	-	19	1684		c.e19-2		TEX11_ENST00000344304.3_Splice_Site|TEX11_ENST00000374320.2_Splice_Site|TEX11_ENST00000374333.2_Splice_Site	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11								protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCTGCAAAGCTGAAAAACAAG	0.289000													3	27					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536862	5536862	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:5536862C>T	ENST00000380184.1	-	1	1073	c.810G>A	c.(808-810)ctG>ctA	p.L270L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	270								p.L270L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGTTCTGACCCAGGGCATTAT	0.463000													11	185					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:37015253A>T	ENST00000418263.1	+	7	1445		c.e7-1		CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1						cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393000													4	100					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6420910	6420910	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:6420910A>T	ENST00000276893.5	+	2	321		c.e2-1		UHRF2_ENST00000381373.3_Splice_Site|RP11-307L3.4_ENST00000411561.1_RNA	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase						cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TTTATTTTCTAGTTGGAAAAT	0.343000													5	70					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30408355	30408355	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:30408355A>T	ENST00000333027.3	+	13	1449		c.e13-1		CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Splice_Site|MTMR3_ENST00000323630.5_Splice_Site|MTMR3_ENST00000401950.2_Splice_Site|MTMR3_ENST00000351488.3_Splice_Site	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3						phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTGTTTTTATAGTTGGCTATC	0.388000													7	249					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40277232	40277232	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:40277232A>T	ENST00000309930.5	+	7	529		c.e7-1		C7orf10_ENST00000335693.4_Splice_Site|C7orf10_ENST00000401647.2_Splice_Site	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10								transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGTTGTTTTAGGGTATGGTC	0.443000													4	165					0	0	1	0	0
GPANK1	7918	broad.mit.edu	37	6	31632107	31632107	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31632107T>C	ENST00000375906.1	-	3	833	c.149A>G	c.(148-150)gAt>gGt	p.D50G	GPANK1_ENST00000375895.2_Missense_Mutation_p.D50G|GPANK1_ENST00000375896.4_Missense_Mutation_p.D50G|GPANK1_ENST00000375900.4_Missense_Mutation_p.D50G|GPANK1_ENST00000375893.2_Missense_Mutation_p.D50G	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	50						intracellular	nucleic acid binding	p.D50G(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCTGCTCTCATCCCCAATCAG	0.557000													22	43					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679957	63679957	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:63679957C>T	ENST00000301459.4	-	11	1464	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	359	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G359G(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GAGTCTTGTTCCCAATCACCT	0.542000													4	79					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37821618	37821618	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:37821618T>A	ENST00000309889.2	+	1	1179	c.6T>A	c.(4-6)gcT>gcA	p.A2A	TCAP_ENST00000578283.1_Silent_p.A2A			O15273	TELT_HUMAN	titin-cap	2					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	p.A2A(1)		kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATCATGGCTACCTCAGAGC	0.602000													11	17					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231258	21231258	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:21231258C>G	ENST00000233242.1	-	26	8609	c.8482G>C	c.(8482-8484)Gtg>Ctg	p.V2828L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2828					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGAACTTCACTGACTCCTTC	0.413000													8	348					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353000													4	105					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													5	74					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77380396	77380396	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:77380396G>A	ENST00000373316.4	+	9	1129	c.962G>A	c.(961-963)aGc>aAc	p.S321N	PGK1_ENST00000537456.1_Missense_Mutation_p.S293N|PGK1_ENST00000442431.1_Missense_Mutation_p.S185N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	321					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.S321N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CCTGAAAGCAGCAAGAAGTAT	0.502000													44	494					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701064	60701064	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:60701064C>A	ENST00000005286.4	+	8	1563	c.1410C>A	c.(1408-1410)ggC>ggA	p.G470G	TMEM132A_ENST00000453848.2_Silent_p.G469G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	469						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.G470G(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGAGCCGGGGCGCCCGGGGGG	0.692000													7	7					0.00448238	0.00455835	1	1	0
GRIN3B	116444	broad.mit.edu	37	19	1004979	1004979	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:1004979C>T	ENST00000234389.3	+	3	1498	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	493					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	p.F493F(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACACGCCCTTCGACTTCGAGC	0.721000													6	34					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743456	179743456	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:179743456C>T	ENST00000253778.8	-	13	1327	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	386	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCAAAACTTGCCGCGTCTGAA	0.507000													4	185					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542000													6	466					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855726	140855726	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:140855726A>G	ENST00000308177.3	+	1	147	c.43A>G	c.(43-45)Agg>Ggg	p.R15G	PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_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)			AAGCACCGGGAGGGTAGTGGG	0.562000													4	323					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:33836390A>T	ENST00000548645.1	+	3	340		c.e3-1		NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000341321.4_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000551492.1_Intron			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368000													3	30					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15449215	15449215	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:15449215T>A	ENST00000584811.1	-	5	1569	c.154A>T	c.(154-156)Aat>Tat	p.N52Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.N116Y|TVP23C_ENST00000225576.3_Missense_Mutation_p.N116Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.N116Y|TVP23C_ENST00000519970.1_Missense_Mutation_p.N30Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.N116Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.N116Y					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)									p.N116Y(2)									ACAGTTTTATTCTCTTGAGAG	0.323000													14	53					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109554267	109554267	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:109554267T>C	ENST00000357672.3	-	4	692	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	WDR47_ENST00000361054.3_Missense_Mutation_p.Y106C|WDR47_ENST00000400794.3_Missense_Mutation_p.Y141C|WDR47_ENST00000369962.3_Missense_Mutation_p.Y134C|WDR47_ENST00000369965.4_Missense_Mutation_p.Y134C			O94967	WDR47_HUMAN	WD repeat domain 47	134								p.Y134C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAGCTTACTATAGTCATCTTT	0.398000													17	213					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258476	57258476	+	Splice_Site	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:57258476C>A	ENST00000343433.6	-	2	90	c.9_splice	c.e2-1	p.E4_splice	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	4								p.E4*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTTACCCCTTCCTAAGGCAAA	0.353000													40	307					4.53413e-08	4.84071e-08	1	1	0
EVI2B	2124	broad.mit.edu	37	17	29632058	29632058	+	Missense_Mutation	SNP	A	A	T	rs142498190		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:29632058A>T	ENST00000330927.4	-	2	724	c.570T>A	c.(568-570)agT>agA	p.S190R	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	190						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTTGTTTGTTACTGGTAGTAT	0.338000													5	199					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35986146	35986146	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:35986146T>A	ENST00000349699.2	-	8	976		c.e8-2		DDX52_ENST00000394367.3_Splice_Site	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CACTCAACACTAAGAAATAAC	0.423000													4	37					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62123795	62123795	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:62123795A>T	ENST00000415229.2	+	3	405		c.e3-1		ASRGL1_ENST00000535727.1_Intron|ASRGL1_ENST00000301776.5_Splice_Site	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1						asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTTGGTTTTAGGTTGTGGGT	0.542000													4	144					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46632347	46632347	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:46632347A>T	ENST00000181383.4	-	9	982	c.966T>A	c.(964-966)taT>taA	p.Y322*	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	322					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TACTTCGTGTATAGGAATATG	0.338000													5	233					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35825563	35825563	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:35825563A>T	ENST00000423537.2	-	2	865	c.596T>A	c.(595-597)cTa>cAa	p.L199Q	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	199										endometrium(2)|kidney(1)|lung(4)	7						CTTCTTGCCTAGTTGGTGTCC	0.502000													6	486					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115663284	115663284	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:115663284A>T	ENST00000369301.3	+	9	1706		c.e9-1			NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2						cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTTCTTTTTTAGATTAAAGTT	0.313000													4	65					0	0	1	0	0
FSTL1	11167	broad.mit.edu	37	3	120122137	120122137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:120122137G>A	ENST00000295633.3	-	8	1002	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	FSTL1_ENST00000424703.2_Nonsense_Mutation_p.Q181*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	216	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AGAAACTCTTGGAAGCTGAGT	0.428000													3	154					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122845616	122845616	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:122845616C>A	ENST00000358808.2	-	5	1049	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	CLIP1_ENST00000545889.1_5'UTR|CLIP1_ENST00000361654.4_Missense_Mutation_p.V299L|CLIP1_ENST00000302528.7_Missense_Mutation_p.V299L|CLIP1_ENST00000537178.1_Missense_Mutation_p.V299L|CLIP1_ENST00000540338.1_Missense_Mutation_p.V299L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	299					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCGCCATCACTCGCCTCACT	0.587000													11	91					0.000566183	0.000585707	1	1	0
OR52N2	390077	broad.mit.edu	37	11	5841740	5841740	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:5841740C>A	ENST00000317037.2	+	1	197	c.175C>A	c.(175-177)Cgg>Agg	p.R59R	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H53_F64del(1)|p.R59G(1)|p.R59R(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCCTGCACCGGCCCATGTA	0.522000													136	225					1.08273e-52	1.22113e-52	1	1	0
KRT76	51350	broad.mit.edu	37	12	53170786	53170786	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:53170786C>A	ENST00000332411.2	-	1	343	c.290G>T	c.(289-291)gGc>gTc	p.G97V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	97	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						gcccccaaagccacctccata	0.617000													5	95					1	1	1	1	0
OR10X1	128367	broad.mit.edu	37	1	158549066	158549066	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:158549066A>T	ENST00000368150.1	-	1	623	c.624T>A	c.(622-624)agT>agA	p.S208R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGTGTGGTTACTGTCTATAC	0.433000													5	110					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24629158	24629158	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:24629158C>T	ENST00000558468.1	+	11	1410	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	RNF31_ENST00000382687.3_Silent_p.A844A|RNF31_ENST00000559275.1_Silent_p.A844A|RNF31_ENST00000324103.6_Silent_p.A995A																							CTGGCTATGCCGGCCTGTGCC	0.592000													4	348					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50869645	50869645	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:50869645T>A	ENST00000398473.2	+	16	2285	c.2173T>A	c.(2173-2175)Taa>Aaa	p.*725K	LARP4_ENST00000293618.8_Nonstop_Mutation_p.*654K|LARP4_ENST00000347328.5_Nonstop_Mutation_p.*654K|LARP4_ENST00000429001.3_Nonstop_Mutation_p.*731K|LARP4_ENST00000518444.1_Nonstop_Mutation_p.*724K	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	0							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATCACCAAAGTAAAAAACAAC	0.448000													9	41					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187506111	187506111	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:187506111A>T	ENST00000261023.3	+	12	1230		c.e12-1		ITGAV_ENST00000433736.2_Splice_Site|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Splice_Site	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V						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)		CTGTTCTTCTAGTTATGCAGA	0.433000													6	151					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61897195	61897195	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:61897195A>T	ENST00000427159.2	-	21	3156	c.2511T>A	c.(2509-2511)cgT>cgA	p.R837R		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	837					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TTTGTTCCTTACGTTGCTGTG	0.537000													30	881					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517000													4	310					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799343	45799343	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:45799343G>T	ENST00000553795.1	-	4	836	c.528C>A	c.(526-528)atC>atA	p.I176I	OR13A1_ENST00000374401.2_Silent_p.I176I|OR13A1_ENST00000536058.1_Silent_p.I176I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCCCCGTGTGGATGGCCGTGT	0.602000													6	96					3.09899e-07	3.33845e-07	1	1	0
ZNF564	163050	broad.mit.edu	37	19	12637723	12637723	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:12637723C>T	ENST00000339282.7	-	4	1395	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	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	356					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38272312	38272312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:38272312A>T	ENST00000447712.2	-	14	2903	c.1962T>A	c.(1960-1962)taT>taA	p.Y654*	FGFR1_ENST00000326324.6_Nonsense_Mutation_p.Y563*|FGFR1_ENST00000335922.5_Nonsense_Mutation_p.Y644*|FGFR1_ENST00000532791.1_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000356207.5_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000425967.3_Nonsense_Mutation_p.Y685*|FGFR1_ENST00000397091.5_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397103.1_Nonsense_Mutation_p.Y565*|FGFR1_ENST00000397108.4_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000397113.2_Nonsense_Mutation_p.Y652*|FGFR1_ENST00000341462.5_Nonsense_Mutation_p.Y654*	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	654	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTGTCTTTTTATAGTAGTCGA	0.557000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						8	405					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589746	140589746	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:140589746G>T	ENST00000239450.2	+	1	1456	c.1267G>T	c.(1267-1269)Gtc>Ttc	p.V423F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V86F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		423	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCATCACCGTCACCGACTT	0.517000													32	190					2.52449e-32	2.87646e-32	1	1	0
TTC22	55001	broad.mit.edu	37	1	55251692	55251692	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:55251692T>C	ENST00000371276.4	-	5	1087	c.984A>G	c.(982-984)ccA>ccG	p.P328P	TTC22_ENST00000371274.4_Silent_p.P328P	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	328							binding	p.P328P(2)		kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						AGTTGAGTTCTGGATCTCGTA	0.552000													24	72					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90547013	90547013	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:90547013C>A	ENST00000406263.1	+	7	1104	c.662C>A	c.(661-663)aCg>aAg	p.T221K	CDK14_ENST00000436577.2_Missense_Mutation_p.T138K|CDK14_ENST00000380050.3_Missense_Mutation_p.T267K|CDK14_ENST00000265741.3_Missense_Mutation_p.T249K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	267	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATCAGTGACACGGGGGAGTTA	0.448000													4	253					1.23904e-05	1.31683e-05	1	1	0
CELA2A	63036	broad.mit.edu	37	1	15798500	15798500	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:15798500T>A	ENST00000359621.4	+	8	833	c.808T>A	c.(808-810)Taa>Aaa	p.*270K	CELA2B_ENST00000494280.1_Intron	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	0					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGCAAATAACTAACCAAAAGA	0.433000													5	164					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108678	93108678	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:93108678A>T	ENST00000359558.2	-	5	546	c.247T>A	c.(247-249)Tac>Aac	p.Y83N	CALCR_ENST00000421592.1_Missense_Mutation_p.Y65N|CALCR_ENST00000360249.4_Missense_Mutation_p.Y65N|CALCR_ENST00000426151.1_Missense_Mutation_p.Y65N|CALCR_ENST00000394441.1_Missense_Mutation_p.Y65N	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	65					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCTCCTTGGTATGCGGGTAAC	0.368000													5	350					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955937	57955937	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:57955937A>G	ENST00000334181.4	+	3	1671	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K387R(1)|p.K474R(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)		ATTCAACACAAGAGGATTGAC	0.448000													178	327					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109450	151109450	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:151109450T>G	ENST00000341697.3	-	11	2548	c.857A>C	c.(856-858)aAc>aCc	p.N286T				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	286	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACAGAGCAGTTGAGCCGAAG	0.572000													6	419					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785300	54785300	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:54785300C>T	ENST00000218436.6	-	8	1236	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	403	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G403S(1)									GTCGTCACGCCGGCCGTGGGC	0.597000													58	112					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3351201	3351201	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:3351201G>A	ENST00000520002.1	-	12	1950	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	CSMD1_ENST00000539096.1_Silent_p.D464D|CSMD1_ENST00000537824.1_Silent_p.D464D|CSMD1_ENST00000602723.1_Silent_p.D465D|CSMD1_ENST00000400186.3_Silent_p.D465D|CSMD1_ENST00000602557.1_Silent_p.D465D|CSMD1_ENST00000542608.1_Silent_p.D464D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	465	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGTCAGGGTGTCATAGCCTC	0.483000													7	103					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908473	164908473	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:164908473T>C	ENST00000475390.1	-	2	589	c.146A>G	c.(145-147)tAc>tGc	p.Y49C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Y49C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	49						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AACTTCACAGTAGCATGGATC	0.388000										HNSCC(40;0.11)			3	153					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428000													4	185					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428000													8	284					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	232952199	232952199	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:232952199A>T	ENST00000325385.7	+	6	645	c.369A>T	c.(367-369)gtA>gtT	p.V123V	DIS3L2_ENST00000360410.4_Silent_p.V123V|DIS3L2_ENST00000409401.3_Silent_p.V123V|DIS3L2_ENST00000273009.6_Silent_p.V123V|DIS3L2_ENST00000409307.1_Silent_p.V123V|DIS3L2_ENST00000470087.1_3'UTR	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	123							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTCTTTAGGTAGTTAAACCAG	0.393000													5	68					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44425962	44425962	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:44425962G>A	ENST00000372343.3	+	12	2732	c.2070G>A	c.(2068-2070)aaG>aaA	p.K690K		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	690					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.K690K(1)		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)				TTATCCAGAAGGTGCTGAGCA	0.562000													25	534					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141727751	141727751	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:141727751T>A	ENST00000522684.1	-	23	2317	c.2088A>T	c.(2086-2088)agA>agT	p.R696S	PTK2_ENST00000538769.1_Missense_Mutation_p.R364S|PTK2_ENST00000395218.2_Missense_Mutation_p.R696S|PTK2_ENST00000430260.2_Missense_Mutation_p.R6S|PTK2_ENST00000519419.1_Missense_Mutation_p.R740S|PTK2_ENST00000517887.1_Missense_Mutation_p.R740S|PTK2_ENST00000519465.1_Missense_Mutation_p.R324S|PTK2_ENST00000521059.1_Missense_Mutation_p.R696S|PTK2_ENST00000535192.1_Missense_Mutation_p.R696S|PTK2_ENST00000340930.3_Missense_Mutation_p.R696S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	696					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	p.R718S(1)|p.R696S(1)|p.R648S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGCCTGTCTTCTGGACTCCA	0.537000													141	293					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42180387	42180387	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:42180387T>C	ENST00000401548.3	+	25	3172	c.3132T>C	c.(3130-3132)gcT>gcC	p.A1044A	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Silent_p.A377A|MEI1_ENST00000300398.4_Silent_p.A52A	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1044							binding	p.A1050A(1)		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						TATTGAAGGCTCTCAGCTTTC	0.493000													53	87					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134618	96134618	+	RNA	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:96134618C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TGCAGCAGTCCATTGACCAAT	0.517000			T	TRA@	T-ALL								4	231					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	48					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000507469.1_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	102					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52649373	52649373	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:52649373T>A	ENST00000356770.4	-	14	1824	c.1822A>T	c.(1822-1824)Aag>Tag	p.K608*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K640*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K655*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K640*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K640*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.K640*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K655*			Q86U86	PB1_HUMAN	polybromo 1	640	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.K640*(2)|p.K608*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTACTCAGCTTGAGTTTGGGA	0.363000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								11	41					0	0	1	0	0
ATG12	9140	broad.mit.edu	37	5	115177150	115177150	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:115177150G>C	ENST00000509910.1	-	1	405	c.100C>G	c.(100-102)Ccc>Gcc	p.P34A	ATG12_ENST00000274459.4_Missense_Mutation_p.P81A|ATG12_ENST00000500945.2_Missense_Mutation_p.P34A			O94817	ATG12_HUMAN	autophagy related 12	34					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		GAAGACGGGGGCTCCGGGGTG	0.567000													8	80					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161812	239161812	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:239161812C>T	ENST00000254657.3	-	19	3131	c.2852G>A	c.(2851-2853)aGc>aAc	p.S951N	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	951	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGAGGTCCGGCTGGGGAACTC	0.662000													3	84					0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20230758	20230758	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:20230758A>T	ENST00000375120.3	+	5	607		c.e5-1			NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3											breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTTCCTTTAGTTTCAGATG	0.338000													4	33					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63915942	63915942	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:63915942G>T	ENST00000443617.2	-	73	13680	c.13593C>A	c.(13591-13593)acC>acA	p.T4531T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4531	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.T4531T(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTCTGTGATGGTGTCATCAA	0.522000													209	294					5.12032e-141	6.03739e-141	1	1	0
MKL1	57591	broad.mit.edu	37	22	40859228	40859228	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:40859228G>A	ENST00000396617.3	-	4	594	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MKL1_ENST00000355630.3_Missense_Mutation_p.P2S|MKL1_ENST00000402630.1_Missense_Mutation_p.P2S|MKL1_ENST00000407029.1_Missense_Mutation_p.P2S|MKL1_ENST00000402042.1_Missense_Mutation_p.P2S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	2	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	p.P2S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CACTTACGCGGCATGATCCCT	0.527000			T	RBM15	acute megakaryocytic leukemia								5	708					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099852	27099852	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:27099852C>A	ENST00000324856.7	+	15	4102	c.3731C>A	c.(3730-3732)cCc>cAc	p.P1244H	ARID1A_ENST00000457599.2_Missense_Mutation_p.P1244H|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Missense_Mutation_p.P861H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1244					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.P1244H(1)	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)		GGGAGTGATCCCTTCATGTCC	0.592000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								103	189					2.52883e-43	2.90938e-43	1	1	0
RP1	6101	broad.mit.edu	37	8	55542223	55542223	+	Silent	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:55542223C>G	ENST00000220676.1	+	4	5929	c.5781C>G	c.(5779-5781)ccC>ccG	p.P1927P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1927					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1927P(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTATCCAACCCATGAATGAGG	0.353000													4	146					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73751240	73751240	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:73751240C>G	ENST00000276033.5	+	6	1860	c.1694C>G	c.(1693-1695)gCt>gGt	p.A565G	SLC16A2_ENST00000587091.1_Missense_Mutation_p.A491G			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	491						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	ATCATCGGGGCTGTAATCCTC	0.522000													4	246					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770231	38770231	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:38770231A>T	ENST00000449082.2	-	15	2441	c.2442T>A	c.(2440-2442)cgT>cgA	p.R814R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	814					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCGGTTGTTACGGTAGTTTT	0.527000													5	129					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947012	57947012	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:57947012A>T	ENST00000335397.3	+	3	412	c.96A>T	c.(94-96)ttA>ttT	p.L32F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTGTTTTTATTTATGTATC	0.448000													7	459					0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162344057	162344057	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:162344057G>A	ENST00000367935.4	-	3	646	c.567C>T	c.(565-567)tgC>tgT	p.C189C	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	189										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GGTACATGCGGCAGCAGGCCA	0.582000													5	340					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24632285	24632285	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:24632285T>A	ENST00000396864.3	+	3	578	c.291T>A	c.(289-291)gtT>gtA	p.V97V	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	97					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.V97V(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		TTAAGGAGGTTCCTGAGAGGG	0.527000													21	280					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038952	11038952	+	RNA	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr21:11038952A>T	ENST00000470054.1	-	0	1251									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGATAATGAAAATGATGACTC	0.423000													50	1010					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95093560	95093560	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:95093560G>A	ENST00000371501.4	-	42	4796	c.4674C>T	c.(4672-4674)taC>taT	p.Y1558Y	MYOF_ENST00000359263.4_Silent_p.Y1558Y|MYOF_ENST00000371502.4_Silent_p.Y1577Y|MYOF_ENST00000358334.5_Silent_p.Y1545Y			Q9NZM1	MYOF_HUMAN	myoferlin	1558	C2 5.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.Y1558Y(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCGAACAATGTAAATCCTAA	0.547000													4	72					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135370277	135370277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:135370277C>T	ENST00000354042.4	-	14	2287	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	C7orf73_ENST00000422968.1_Intron|SLC13A4_ENST00000491630.1_5'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	533						integral to plasma membrane	sodium:sulfate symporter activity	p.C533Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAGGCTGCACAGGATGGG	0.612000													41	377					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97586995	97586995	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:97586995A>T	ENST00000369261.4	+	11	2064		c.e11-1		KLHL32_ENST00000536676.1_Splice_Site|KLHL32_ENST00000544166.1_Splice_Site|KLHL32_ENST00000539200.1_Splice_Site	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32											breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CCTCTTTTGTAGGTACTGGAT	0.383000													5	152					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582323	179582323	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:179582323G>A	ENST00000589042.1	-	87	25502	c.25278C>T	c.(25276-25278)caC>caT	p.H8426H	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.H7182H|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.H8109H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8109	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H7182H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCCCTATGTGGCTCTGGT	0.423000													25	49					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153274993	153274993	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:153274993A>G	ENST00000290722.1	-	5	672	c.620T>C	c.(619-621)aTc>aCc	p.I207T		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	207					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.I207T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCGGTGTGGATGATGATGAC	0.483000													40	368					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379256	57379256	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:57379256C>T	ENST00000403558.1	+	6	1591	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	SERPING1_ENST00000378324.2_Missense_Mutation_p.R314C|SERPING1_ENST00000378323.4_Missense_Mutation_p.R371C|SERPING1_ENST00000278407.4_Missense_Mutation_p.R366C|SERPING1_ENST00000340687.6_Intron	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	366					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTGAAACATCGTCTTGAAGA	0.493000													20	463					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31204790	31204790	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:31204790A>T	ENST00000458591.2	+	25	2132		c.e25-1		RP11-159L20.2_ENST00000554665.1_RNA|SCFD1_ENST00000396629.2_Splice_Site|SCFD1_ENST00000544052.2_Splice_Site|SCFD1_ENST00000541123.1_Splice_Site|SCFD1_ENST00000421551.3_Splice_Site	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1						post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		GTTTTGTTTTAGTTGTCACAA	0.264000													4	35					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99991267	99991267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:99991267A>T	ENST00000314594.5	+	7	2130		c.e7-1		R3HCC1L_ENST00000370584.3_Splice_Site|R3HCC1L_ENST00000370586.2_Splice_Site|R3HCC1L_ENST00000298999.3_Splice_Site	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		CTTCCTTTCTAGTTATCAGGG	0.378000													6	215					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31594091	31594091	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:31594091G>T	ENST00000319386.3	+	3	1159	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	CCDC129_ENST00000451887.2_Missense_Mutation_p.D82Y|CCDC129_ENST00000407970.3_Missense_Mutation_p.D56Y|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000409210.1_5'UTR			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	56										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACTTGTAGAAGATTCCAAGCA	0.423000													4	35					0.00198382	0.0020442	1	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732689	37732689	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:37732689G>T	ENST00000330843.4	-	3	978	c.966C>A	c.(964-966)aaC>aaA	p.N322K	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.N174K|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.N322K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.N174K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	322					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGTAAACATGGTTCCCATTGA	0.502000													8	1046					0.00307968	0.00315967	1	1	0
CNBP	7555	broad.mit.edu	37	3	128890023	128890023	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:128890023G>A	ENST00000422453.2	-	4	475	c.315C>T	c.(313-315)ggC>ggT	p.G105G	CNBP_ENST00000446936.2_Silent_p.G100G|CNBP_ENST00000504813.1_Silent_p.G95G|CNBP_ENST00000451728.2_Silent_p.G106G|CNBP_ENST00000500450.2_Silent_p.G88G|CNBP_ENST00000441626.2_Silent_p.G107G|CNBP_ENST00000502976.1_Silent_p.G98G	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	105					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G105G(1)		biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GAGCCAGATGGCCTGGTTTGC	0.502000													115	158					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369264	139369264	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:139369264T>C	ENST00000313050.7	-	1	2877	c.2804A>G	c.(2803-2805)gAg>gGg	p.E935G	SEC16A_ENST00000371706.3_Missense_Mutation_p.E757G|SEC16A_ENST00000290037.6_Missense_Mutation_p.E757G|SEC16A_ENST00000431893.2_Missense_Mutation_p.E757G	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	757	Pro-rich.|Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.E935G(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AACCAAGTTCTCTGGAACTGG	0.473000													37	58					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21941942	21941942	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:21941942A>T	ENST00000406877.3	-	10	1642	c.1363T>A	c.(1363-1365)Taa>Aaa	p.*455K	CDCA7L_ENST00000373934.4_Nonstop_Mutation_p.*409K|CDCA7L_ENST00000356195.5_Nonstop_Mutation_p.*421K	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	0					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTTCCTCTTAATTGTCTTCT	0.378000													4	78					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52903989	52903989	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:52903989T>A	ENST00000371544.3	-	25	4103	c.3841A>T	c.(3841-3843)Aga>Tga	p.R1281*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1281*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1281					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTTAATACTCTGGAATCAAAG	0.388000													4	202					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140954715	140954715	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:140954715T>A	ENST00000253811.6	-	15	1602		c.e15-2		DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site|DIAPH1_ENST00000398557.4_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site|DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000389054.3_Splice_Site			O60610	DIAP1_HUMAN	diaphanous-related formin 1						regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTCCAACTAGAGAAAAAA	0.443000													7	389					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32780855	32780855	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:32780855C>T	ENST00000265074.8	+	5	1566	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	NPR3_ENST00000434067.2_Missense_Mutation_p.A192V|NPR3_ENST00000415685.2_Missense_Mutation_p.A192V|NPR3_ENST00000415167.2_Missense_Mutation_p.A408V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	408					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCCATAGATGCCAACGGAGAC	0.517000													54	272					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523066	31523066	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr18:31523066C>A	ENST00000261592.5	-	9	1802	c.1505G>T	c.(1504-1506)aGa>aTa	p.R502I	NOL4_ENST00000538587.1_Missense_Mutation_p.R428I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Missense_Mutation_p.R283I|NOL4_ENST00000535384.1_Missense_Mutation_p.R217I|NOL4_ENST00000269185.4_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	502						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCGGCATTTCTACTCTCACT	0.428000													6	179					0.000274275	0.000286358	1	1	0
PARN	5073	broad.mit.edu	37	16	14676140	14676140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:14676140C>A	ENST00000437198.2	-	17	1231	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	PARN_ENST00000341484.7_Nonsense_Mutation_p.E303*|PARN_ENST00000420015.2_Nonsense_Mutation_p.E318*|PARN_ENST00000539279.1_Nonsense_Mutation_p.E189*	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	364					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGAAAACCTTCGGCACTTTCT	0.423000													4	533					0.014758	0.0148836	1	1	0
ANKFY1	51479	broad.mit.edu	37	17	4085547	4085547	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:4085547G>A	ENST00000341657.4	-	15	2085	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	ANKFY1_ENST00000574367.1_Missense_Mutation_p.P685S|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P726S|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	684						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTCTCATCTGGCACAGACATG	0.567000													4	424					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23597394	23597394	+	Silent	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:23597394C>G	ENST00000316902.7	-	10	2000	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	SLC7A8_ENST00000422941.2_Silent_p.L201L|SLC7A8_ENST00000529705.2_Silent_p.L320L|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Silent_p.L222L	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	425					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	p.L425L(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TGATGGGGAACAGCAGGTTGA	0.582000													27	100					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089641	86089641	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:86089641A>T	ENST00000330753.4	+	2	2550	c.1783A>T	c.(1783-1785)Aag>Tag	p.K595*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.K595*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	595					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.K595*(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGGCACCAAGAAGGACAACTC	0.478000													64	87					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802039	170802039	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:170802039A>T	ENST00000436636.2	-	26	3418	c.3074T>A	c.(3073-3075)gTa>gAa	p.V1025E	TNIK_ENST00000488470.1_Missense_Mutation_p.V970E|TNIK_ENST00000369326.5_Missense_Mutation_p.V1003E|TNIK_ENST00000357327.5_Missense_Mutation_p.V996E|TNIK_ENST00000341852.6_Missense_Mutation_p.V941E|TNIK_ENST00000284483.8_Missense_Mutation_p.V1017E|TNIK_ENST00000538048.1_Missense_Mutation_p.V977E|TNIK_ENST00000475336.1_Missense_Mutation_p.V933E|TNIK_ENST00000470834.1_Missense_Mutation_p.V988E|TNIK_ENST00000460047.1_Missense_Mutation_p.V962E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1025	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGGGTTTACATTTACCAC	0.408000													4	134					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44696427	44696427	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:44696427A>T	ENST00000281543.5	+	14	1807		c.e14-1		GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)						translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTCCTTTTAGTTTTGATTA	0.343000													3	27					0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37414210	37414210	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:37414210G>C	ENST00000403892.3	-	1	1298	c.564C>G	c.(562-564)ttC>ttG	p.F188L	TST_ENST00000249042.3_Missense_Mutation_p.F188L	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	188	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	p.F188L(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						CGGTGCCCAGGAACCGCCCTT	0.592000													2	2					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23731091	23731091	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:23731091T>A	ENST00000344962.4	+	4	602	c.513T>A	c.(511-513)acT>acA	p.T171T	FAM221A_ENST00000409653.1_Silent_p.T113T|FAM221A_ENST00000409192.3_Silent_p.T171T|FAM221A_ENST00000409994.3_Silent_p.T113T	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	171																	TAGTGGAAACTAAGCAAGAAA	0.478000													7	388					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189914113	189914113	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:189914113G>A	ENST00000374866.3	-	44	3381	c.3107C>T	c.(3106-3108)cCc>cTc	p.P1036L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1036					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P1036L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGAGCCTGGGGGCCCCACAGG	0.458000													10	14					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98887143	98887143	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	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	86					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34178919	34178919	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:34178919A>T	ENST00000266483.2	+	3	810	c.491A>T	c.(490-492)tAt>tTt	p.Y164F	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	164					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			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTTTTGCGTATTTGATGTGT	0.343000													5	220					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411763	48411763	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:48411763A>T	ENST00000435803.1	+	33	10827		c.e33-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTTTTGGTAGTATATGCGG	0.468000													4	121					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109560	145109560	+	RNA	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:145109560A>T	ENST00000453618.1	+	0	549							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										ATTTGGTTTTATGTGAAGCTG	0.418000													7	666					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279938	152279938	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:152279938C>G	ENST00000368799.1	-	3	7459	c.7424G>C	c.(7423-7425)gGa>gCa	p.G2475A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2475	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G2475A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGTGGGATCCCTGCCTTCC	0.577000									Ichthyosis				123	500					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ttTTCTTTTTAGGTTGTAGAC	0.398000													6	35					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681890	30681890	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:30681890T>C	ENST00000376406.3	-	3	854	c.207A>G	c.(205-207)ccA>ccG	p.P69P	MDC1_ENST00000376405.2_Silent_p.P69P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	69	FHA.|Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGGAGATAGATGGAAAGGGCA	0.488000								Other conserved DNA damage response genes					4	216					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	700616	700616	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:700616C>G	ENST00000549091.1	+	5	558	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	WDR90_ENST00000293879.4_Missense_Mutation_p.L156V	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	156								p.L156V(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCTGGTCTACCTGAACCGGTG	0.627000													5	13					0	0	1	0	0
LAMTOR4	389541	broad.mit.edu	37	7	99751111	99751111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:99751111G>A	ENST00000441173.1	+	3	208	c.173G>A	c.(172-174)gGc>gAc	p.G58D	LAMTOR4_ENST00000468582.1_3'UTR|LAMTOR4_ENST00000341942.5_Missense_Mutation_p.G58D					late endosomal/lysosomal adaptor, MAPK and MTOR activator 4																		CTGCACCGCGGCATGAATGTG	0.637000													4	256					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:100286421A>T	ENST00000395211.2	+	2	88		c.e2-1		TMOD1_ENST00000259365.3_Splice_Site	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453000													5	182					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148789117	148789117	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:148789117A>T	ENST00000310053.5	-	7	1009	c.816T>A	c.(814-816)taT>taA	p.Y272*	HLTF_ENST00000392912.2_Nonsense_Mutation_p.Y272*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.Y272*|HLTF_ENST00000465259.1_Nonsense_Mutation_p.Y272*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	272					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTATTGTGTTATAGTATAAGT	0.373000													5	53					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20002281	20002281	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:20002281A>T	ENST00000589717.1	+	4	318		c.e4-1		ZNF253_ENST00000355650.4_Splice_Site	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTTCTTTTAGTTATGAGTT	0.313000													3	16					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762678	131762678	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:131762678G>T	ENST00000370836.2	-	4	1806	c.1391C>A	c.(1390-1392)gCc>gAc	p.A464D	HS6ST2_ENST00000406696.3_Missense_Mutation_p.A190D|HS6ST2_ENST00000521489.1_Missense_Mutation_p.A504D|HS6ST2_ENST00000370833.2_Missense_Mutation_p.A358D|HS6ST2_ENST00000370837.1_Missense_Mutation_p.A318D	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	464						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TACACTAGAGGCCCTAGTGGT	0.408000													6	328					3.59834e-05	3.80717e-05	1	1	0
SLC44A3	126969	broad.mit.edu	37	1	95330370	95330370	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:95330370C>T	ENST00000271227.6	+	11	1412	c.1310C>T	c.(1309-1311)aCc>aTc	p.T437I	SLC44A3_ENST00000467909.1_Missense_Mutation_p.T389I|SLC44A3_ENST00000446120.2_Missense_Mutation_p.T401I|SLC44A3_ENST00000532427.1_Missense_Mutation_p.T357I|SLC44A3_ENST00000529450.1_Missense_Mutation_p.T405I|SLC44A3_ENST00000527077.1_Missense_Mutation_p.T369I|SLC44A3_ENST00000530397.1_3'UTR	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	437						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CATCAAGGAACCGTTGTGAAA	0.413000													6	497					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71129001	71129001	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:71129001T>A	ENST00000452400.2	-	3	163		c.e3-2			NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2						cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCAGCAACTAAAACAGAAA	0.408000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	100					0	0	1	0	0
CHPT1	56994	broad.mit.edu	37	12	102107933	102107933	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:102107933T>A	ENST00000549872.1	+	2	529	c.339T>A	c.(337-339)atT>atA	p.I113I	CHPT1_ENST00000229266.3_Silent_p.I113I|CHPT1_ENST00000550385.1_3'UTR			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	113					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	p.I113I(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGGATGCTATTGATGGGAAAC	0.383000													77	160					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145623927	145623927	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:145623927T>A	ENST00000349769.3	-	18	1834	c.1740A>T	c.(1738-1740)gaA>gaT	p.E580D		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	580					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.E580D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGGTGGAGTCTTCCCGGCTCA	0.682000													4	48					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053792	114053792	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:114053792C>G	ENST00000369422.3	+	6	644	c.644C>G	c.(643-645)cCc>cGc	p.P215R		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	215	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTCATGTATCCCTTGCAGTGG	0.478000													4	39					0	0	1	0	0
EIF4E	1977	broad.mit.edu	37	4	99823113	99823113	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:99823113A>T	ENST00000450253.2	-	2	1563	c.39T>A	c.(37-39)aaT>aaA	p.N13K	EIF4E_ENST00000505992.1_Missense_Mutation_p.N13K|EIF4E_ENST00000504432.1_Missense_Mutation_p.N41K|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000280892.6_Missense_Mutation_p.N33K	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	13					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	p.N13K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TAGTCGGGGGATTAGGAGTAG	0.373000													97	139					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280582	117280582	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:117280582C>A	ENST00000278935.3	+	30	4144	c.3997C>A	c.(3997-3999)Caa>Aaa	p.Q1333K	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1333					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.Q1333K(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CACGTCCACCCAATGGGCCTG	0.617000													92	179					9.50263e-46	1.0986e-45	1	1	0
FLG	2312	broad.mit.edu	37	1	152284047	152284047	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:152284047G>A	ENST00000368799.1	-	3	3350	c.3315C>T	c.(3313-3315)gaC>gaT	p.D1105D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1105	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)			CCCCTGACCAGTCACGTGCGG	0.577000									Ichthyosis				5	697					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573941	41573941	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:41573941G>T	ENST00000263253.7	+	31	7445	c.6226G>T	c.(6226-6228)Gcc>Tcc	p.A2076S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2076	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCCTTCACGCCAACCCCCA	0.572000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	267					5.68852e-11	6.27061e-11	1	1	0
MIR92A2	407049	broad.mit.edu	37	X	133303638	133303638	+	RNA	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:133303638G>A	ENST00000385299.1	-	0	4					NR_029509.1																						CCCACCCAGGGATGAATGGGC	0.433000													15	256					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47289515	47289515	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:47289515A>C	ENST00000467728.1	+	7	2278	c.1040A>C	c.(1039-1041)aAt>aCt	p.N347T	NR1H3_ENST00000395397.3_Missense_Mutation_p.N302T|NR1H3_ENST00000405853.3_Missense_Mutation_p.N287T|NR1H3_ENST00000481889.2_Missense_Mutation_p.N366T|NR1H3_ENST00000405576.1_Missense_Mutation_p.N242T|NR1H3_ENST00000407404.1_Missense_Mutation_p.N287T|NR1H3_ENST00000441012.2_Missense_Mutation_p.N347T|NR1H3_ENST00000527949.1_Missense_Mutation_p.N196T|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	347	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.N347T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGGGCCATGAATGAGCTGCAA	0.537000													20	78					0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684103	74684103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:74684103C>A	ENST00000334011.5	+	7	1286	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	356	ZP.					nuclear envelope	calcium ion binding	p.C356*(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CGGTGACCTGCGAGTTTCCAC	0.552000													17	164					0.00121646	0.00125896	1	1	0
P2RY13	53829	broad.mit.edu	37	3	151045862	151045862	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:151045862G>T	ENST00000325602.5	-	2	1001	c.982C>A	c.(982-984)Cta>Ata	p.L328I	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	328						integral to membrane|plasma membrane		p.L307I(1)|p.L328I(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			ATACATGGTAGCTTTTCTGTG	0.363000													78	129					1.24833e-42	1.42925e-42	1	1	0
TRAPPC6B	122553	broad.mit.edu	37	14	39621045	39621045	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:39621045T>A	ENST00000330149.5	-	5	578		c.e5-2		TRAPPC6B_ENST00000347691.5_Splice_Site|TRAPPC6B_ENST00000557764.1_Splice_Site	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TGCTAAATACTAAAAGGAAAA	0.299000													6	73					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436252	11436252	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:11436252A>T	ENST00000222120.3	-	5	742	c.482T>A	c.(481-483)tTc>tAc	p.F161Y	RAB3D_ENST00000589655.1_Missense_Mutation_p.F161Y|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	161					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.F161Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGCTTCAAAGAACTCGAAACC	0.527000													97	151					0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591160	43591160	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr18:43591160A>T	ENST00000409746.5	-	5	412	c.341T>A	c.(340-342)cTa>cAa	p.L114Q	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	114						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTTCGTTGTAGTTTTTGCTT	0.413000													6	232					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744273	135744273	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:135744273C>T	ENST00000375845.3	-	7	2199	c.2169G>A	c.(2167-2169)atG>atA	p.M723I	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.M610I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.M740I|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTGGGCATTTCATATGTGTTT	0.388000													8	143					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42815128	42815128	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:42815128C>T	ENST00000372980.3	-	1	1090	c.218G>A	c.(217-219)gGc>gAc	p.G73D	JPH2_ENST00000342272.3_Missense_Mutation_p.G73D	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	73	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTCTCTATGCCCAGCCCATG	0.597000													4	164					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000559115.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000396936.1_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11							CUL4 RING ubiquitin ligase complex	protein binding										TGCTTCTCTTAGTTCATATCT	0.463000													6	280					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33358779	33358779	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:33358779T>G	ENST00000334528.9	-	1	1306	c.1307A>C	c.(1306-1308)gAg>gCg	p.E436A	FMN1_ENST00000558197.1_Missense_Mutation_p.E436A|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	186	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.E436A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCTTAGCGACTCCTTCTCATG	0.488000													10	34					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482488	76482488	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:76482488G>T	ENST00000389840.5	-	45	7001	c.6877C>A	c.(6877-6879)Cgc>Agc	p.R2293S	DNAH17_ENST00000585328.1_Missense_Mutation_p.R2302S|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.R2302S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACCCAAAGCGCAACTTGTCC	0.582000													69	129					5.40308e-56	6.33925e-56	1	1	0
RD3	343035	broad.mit.edu	37	1	211654589	211654589	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:211654589C>T	ENST00000367002.4	-	2	1332	c.169G>A	c.(169-171)Ggt>Agt	p.G57S	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	57			G -> V (in an individual with cone-rod degeneration).		response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TAGTCCACACCGGTGCAGACC	0.612000													5	162					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095413	103095413	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:103095413C>A	ENST00000295269.4	+	2	829	c.372C>A	c.(370-372)gtC>gtA	p.V124V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	124					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.V124V(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCCTCCGGTCATGGACTCCA	0.612000													119	195					7.93641e-56	9.26567e-56	1	1	0
RTF1	23168	broad.mit.edu	37	15	41763442	41763442	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458000													5	367					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374871	113374871	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:113374871A>T	ENST00000316407.4	-	7	6068	c.5658T>A	c.(5656-5658)atT>atA	p.I1886I	KIAA2018_ENST00000478658.1_Silent_p.I1886I|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1886					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCCTGGTGTTAATTGCACCTA	0.393000													5	210					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26222442	26222442	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:26222442C>T	ENST00000335473.7	+	14	3012	c.2762C>T	c.(2761-2763)gCg>gTg	p.A921V	MYO18B_ENST00000407587.2_Missense_Mutation_p.A921V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A921V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	921	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACTCTTTGCGGCTGTGGTC	0.537000													5	569					0	0	1	0	0
CTXN3	613212	broad.mit.edu	37	5	126993328	126993328	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:126993328A>T	ENST00000379445.3	+	3	666	c.115A>T	c.(115-117)Att>Ttt	p.I39F	CTXN3_ENST00000395322.3_Missense_Mutation_p.I39F|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	39						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCTGTTGTTTATTTTCTTGGG	0.483000													6	305					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43515440	43515440	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:43515440G>A	ENST00000265351.7	-	19	2275	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	689					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	p.L689L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			ACATCTGACAGCACTCTGAAG	0.463000													33	103					0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128413819	128413819	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:128413819A>G	ENST00000249389.2	-	4	810	c.811T>C	c.(811-813)Tac>Cac	p.Y271H		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	271					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TTGACCATGTACATGGCGAAG	0.532000													4	196					0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50080990	50080990	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:50080990C>T	ENST00000298288.6	+	4	1345	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	LRR1_ENST00000318317.4_Missense_Mutation_p.S100L	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	341										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATATGGCTCTCATATCATTCC	0.328000													5	21					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70144085	70144085	+	Silent	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:70144085A>G	ENST00000370958.1	+	2	214	c.24A>G	c.(22-24)ggA>ggG	p.G8G	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						centrosome|focal adhesion|nucleolus	protein binding	p.G8G(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAATAAGGGGAAGGAATCCCC	0.383000													5	10					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048933	9048933	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:9048933G>C	ENST00000397910.4	-	5	32901	c.32698C>G	c.(32698-32700)Cct>Gct	p.P10900A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10902	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTCACCAGGAGAAAGAGTC	0.493000													7	983					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966265	41966265	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:41966265T>C	ENST00000298919.7	+	10	1292	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L	PDZRN4_ENST00000402685.2_Silent_p.L562L|PDZRN4_ENST00000539469.2_Silent_p.L304L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	562	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGATGAAAGCTTGCGAAATGA	0.493000													3	320					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121724198	121724198	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:121724198T>A	ENST00000273691.3	-	3	377	c.272A>T	c.(271-273)gAc>gTc	p.D91V	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.D91V|ILDR1_ENST00000393631.1_Missense_Mutation_p.D91V|ILDR1_ENST00000462014.1_Missense_Mutation_p.D103V	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	91	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity	p.D91V(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCGTTGCAGTCATTGGATGG	0.577000													23	86					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932277	79932277	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:79932277A>T	ENST00000373275.4	-	41	5456	c.5240T>A	c.(5239-5241)aTt>aAt	p.I1747N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1747										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTGTTTTAATTCGAGGCAG	0.413000													4	190					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10225224	10225224	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:10225224T>C	ENST00000556468.1	+	13	2222	c.2195T>C	c.(2194-2196)cTg>cCg	p.L732P	P2RY11_ENST00000321826.4_Missense_Mutation_p.L312P|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L732P|PPAN-P2RY11_ENST00000428358.1_3'UTR					peter pan homolog (Drosophila)									p.L312P(1)|p.L732P(1)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTCATGCCCCTGGCCTTCTGT	0.672000													21	49					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126783560	126783560	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:126783560G>T	ENST00000373615.4	+	4	1649	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	304						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G304C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAAAAGACGGGCCTCACCAA	0.632000													22	29					2.32416e-17	2.61055e-17	1	1	0
LHX5	64211	broad.mit.edu	37	12	113907149	113907149	+	Splice_Site	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:113907149G>T	ENST00000261731.3	-	2	748	c.173_splice	c.e2-1	p.R59_splice		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	59	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GTGCCAAAGCGCCTGTGGACA	0.632000													12	133					0.010729	0.0108666	1	1	0
SPPL3	121665	broad.mit.edu	37	12	121221557	121221557	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:121221557T>A	ENST00000353487.2	-	5	814		c.e5-2			NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3							integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGCAAGAACTAGAGAAAGAA	0.378000													4	46					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841464	100841464	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:100841464C>A	ENST00000369208.3	-	11	2251	c.1469G>T	c.(1468-1470)tGg>tTg	p.W490L	SIM1_ENST00000262901.4_Missense_Mutation_p.W490L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	490	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.W490L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGAGAGCCCCACCAGGGCTC	0.607000													25	53					9.04412e-07	9.6989e-07	1	1	0
NEB	4703	broad.mit.edu	37	2	152497182	152497182	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:152497182T>A	ENST00000427231.2	-	61	8576		c.e61-2		NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACTTGAACTAAAAGAAGAA	0.398000													4	154					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178576587	178576587	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:178576587A>T	ENST00000286063.5	-	13	2380	c.2063T>A	c.(2062-2064)aTt>aAt	p.I688N	AC012499.1_ENST00000412133.1_RNA|PDE11A_ENST00000449286.2_Missense_Mutation_p.I330N|PDE11A_ENST00000409504.1_Missense_Mutation_p.I330N|PDE11A_ENST00000389683.3_Missense_Mutation_p.I244N|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.I438N|AC012499.1_ENST00000450227.1_RNA	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	688	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTCGGTCAGAATGTCTTGAAA	0.498000									Primary Pigmented Nodular Adrenocortical Disease, Familial				49	167					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265658	198265658	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:198265658T>A	ENST00000335508.5	-	18	2590	c.2499A>T	c.(2497-2499)ttA>ttT	p.L833F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	833					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGTATCAACTAACTAAAAAG	0.328000			Mis		myelodysplastic syndrome								3	37					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913051	77913051	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:77913051C>A	ENST00000321110.1	-	2	1162	c.867G>T	c.(865-867)tgG>tgT	p.W289C		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	289							nucleic acid binding|zinc ion binding	p.W289C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGGAACCACCATCCTGCCC	0.468000													9	29					0.00829132	0.00843366	1	1	0
AFTPH	54812	broad.mit.edu	37	2	64779884	64779884	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:64779884G>C	ENST00000422803.1	+	2	1590	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	AFTPH_ENST00000238856.4_Missense_Mutation_p.D426H|AFTPH_ENST00000409933.1_Missense_Mutation_p.D426H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D426H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D57H			Q6ULP2	AFTIN_HUMAN	aftiphilin	426					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.D426H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GACTTGCAATGATATCAATGA	0.378000													28	225					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70184559	70184559	+	Splice_Site	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:70184559G>A	ENST00000253925.7	+	13	1786	c.1571_splice	c.e13+1	p.G524_splice	PPFIA1_ENST00000389547.3_Splice_Site_p.G524_splice|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	524					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.G524D(1)		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)			CTTCATCATGGGTATGGTATT	0.478000													16	44					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55862744	55862744	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:55862744C>T	ENST00000422046.2	-	2	473	c.192G>A	c.(190-192)agG>agA	p.R64R	CES1_ENST00000360526.3_Silent_p.R65R|CES1_ENST00000361503.4_Silent_p.R64R			P23141	EST1_HUMAN	carboxylesterase 1	64				R -> G (in Ref. 18; CAA37147).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTGGAGTAAACCTCAGGGGTC	0.542000													11	203					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925009	70925009	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:70925009A>T	ENST00000603540.1	+	2	1051	c.793A>T	c.(793-795)Aat>Tat	p.N265Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.N265Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	265	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.N265Y(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAATCAAGGAAATGTTTTCCC	0.368000													76	83					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181750568	181750568	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:181750568G>A	ENST00000526775.1	+	38	5381	c.5216G>A	c.(5215-5217)cGc>cAc	p.R1739H	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1758H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1709H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1758H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1739H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1365H|CACNA1E_ENST00000358338.5_Intron	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1758	EF-hand.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCAGTGGCCGCATCCATTAC	0.557000													3	34					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469656	21469656	+	Silent	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:21469656T>C	ENST00000222584.3	+	3	1091	c.873T>C	c.(871-873)gaT>gaC	p.D291D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	291					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CTACTGCTGATAGTGGGACTT	0.522000													3	86					0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873535	139873535	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:139873535G>A	ENST00000224167.2	+	2	280	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	PTGDS_ENST00000371625.3_Missense_Mutation_p.V69M|PTGDS_ENST00000460340.1_3'UTR			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	69					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	p.V69M(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAAGTCTGTGGTGGCCCCTGC	0.672000													11	13					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12837682	12837682	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:12837682G>A	ENST00000380668.5	+	5	715	c.587G>A	c.(586-588)aGg>aAg	p.R196K	PRPS2_ENST00000398491.2_Missense_Mutation_p.R199K	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	196					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CACAAAGAGAGGAAGAAGGCG	0.502000													7	734					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921685	5921685	+	Silent	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:5921685A>T	ENST00000399933.3	-	8	4310	c.4311T>A	c.(4309-4311)acT>acA	p.T1437T	KIAA2026_ENST00000381461.2_Silent_p.T1407T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1437										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTTGCTGTTTAGTTGGAGTAT	0.368000													4	110					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300402	21300402	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:21300402C>A	ENST00000596143.1	+	5	1257	c.932C>A	c.(931-933)tCt>tAt	p.S311Y	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S416Y(1)|p.S311Y(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GGAGAGAAATCTTACAAATGT	0.333000													9	20					1.12685e-05	1.20299e-05	1	1	0
TMCO4	255104	broad.mit.edu	37	1	20009748	20009748	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:20009748C>G	ENST00000294543.6	-	16	1931	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	TMCO4_ENST00000375122.2_Missense_Mutation_p.G524R|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	564						integral to membrane		p.G564R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GATATGGGACCCTGGGTTTGC	0.667000													20	34					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990940	47990940	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:47990940T>A	ENST00000371741.4	-	2	1323	c.1157A>T	c.(1156-1158)aAg>aTg	p.K386M		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	386					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.K386M(1)		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)			CAGGAGAGTCTTGGGGTAGAT	0.512000													5	107					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464695	141464695	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:141464695A>T	ENST00000247879.2	+	1	799	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	246					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttcttactttactttcttgct	0.418000													4	143					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	948634	948634	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:948634C>G	ENST00000217260.4	-	2	323	c.227G>C	c.(226-228)gGg>gCg	p.G76A	RSPO4_ENST00000400634.2_Missense_Mutation_p.G76A	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	76					Wnt receptor signaling pathway	extracellular region	heparin binding	p.G76A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCGAAGTACCCAGGGGGACA	0.602000													169	333					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155546088	155546088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:155546088C>A	ENST00000392845.2	-	6	1941	c.1561G>T	c.(1561-1563)Gga>Tga	p.G521*	SLC33A1_ENST00000359479.3_Nonsense_Mutation_p.G521*	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	521					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.G521*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAACCAAATCCAATGAAAACA	0.338000													19	33					2.94398e-08	3.21532e-08	1	1	0
OR2M7	391196	broad.mit.edu	37	1	248487519	248487519	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:248487519T>A	ENST00000317965.2	-	1	380	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATAAGACATAACAGCCAAC	0.448000													7	648					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49726541	49726541	+	Splice_Site	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:49726541A>G	ENST00000451037.2	-	6	1575		c.e6+1		CA10_ENST00000285273.4_Splice_Site|CA10_ENST00000442502.2_Splice_Site|CA10_ENST00000340813.6_Splice_Site|CA10_ENST00000570565.1_Splice_Site|CA10_ENST00000571918.1_Splice_Site	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development			p.?(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)			AACCAAACTTACTTTTATATG	0.383000													17	12					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789455	34789455	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:34789455A>T	ENST00000192788.5	+	2	241	c.70A>T	c.(70-72)Aaa>Taa	p.K24*	UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.K24*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	24								p.K24*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCCCCAGACAAAATCAACCT	0.453000													34	61					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276901	75276901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:75276901C>A	ENST00000546196.1	-	2	1665	c.13G>T	c.(13-15)Gag>Tag	p.E5*	BCAR1_ENST00000162330.5_Nonsense_Mutation_p.E34*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E34*|BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E32*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E52*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E80*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E34*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E52*			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	34	SH3.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.E34*(4)|p.E80*(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGTCCTGCTCCAGCACCGTC	0.632000													15	30					4.14922e-12	4.61673e-12	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99941139	99941139	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:99941139G>A	ENST00000455616.1	-	14	1643	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S	SYTL4_ENST00000372989.1_Missense_Mutation_p.P433S|SYTL4_ENST00000263033.5_Missense_Mutation_p.P433S|SYTL4_ENST00000276141.6_Missense_Mutation_p.P433S|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000454200.2_Missense_Mutation_p.P435S			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	433	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.P433S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAGATTCTGGGATCTCATAC	0.453000													8	75					0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111071196	111071196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:111071196G>T	ENST00000379671.3	-	4	276	c.12C>A	c.(10-12)taC>taA	p.Y4*	NREP_ENST00000507742.1_5'UTR|NREP_ENST00000508870.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000453526.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509427.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000509025.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000450761.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000509979.1_Nonsense_Mutation_p.Y4*|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000419114.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000515855.1_Nonsense_Mutation_p.Y4*|NREP_ENST00000455559.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000395634.3_Nonsense_Mutation_p.Y48*|NREP_ENST00000446294.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000447165.2_Nonsense_Mutation_p.Y4*|NREP_ENST00000257435.7_Nonsense_Mutation_p.Y4*	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	4						cytoplasm		p.Y4*(1)|p.Y48*(1)									AGAGTTCTGGGTAATAAACCT	0.403000													21	147					1.37657e-19	1.55355e-19	1	1	0
BCAR1	9564	broad.mit.edu	37	16	75276902	75276902	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:75276902C>A	ENST00000546196.1	-	2	1664	c.12G>T	c.(10-12)ctG>ctT	p.L4L	BCAR1_ENST00000162330.5_Silent_p.L33L|BCAR1_ENST00000393420.6_Silent_p.L33L|BCAR1_ENST00000542031.2_Silent_p.L31L|BCAR1_ENST00000393422.2_Silent_p.L51L|BCAR1_ENST00000538440.2_Silent_p.L33L|BCAR1_ENST00000418647.3_Silent_p.L79L|BCAR1_ENST00000535626.2_Silent_p.L33L|BCAR1_ENST00000420641.3_Silent_p.L51L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	33	SH3.			NHL -> SVP (in Ref. 4; BAB55230).	actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.L33L(2)|p.E34*(2)|p.L79L(1)|p.E80*(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGCTCCAGCACCGTCA	0.632000													16	27					2.35188e-11	2.60465e-11	1	1	0
NCL	4691	broad.mit.edu	37	2	232323744	232323744	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:232323744A>T	ENST00000322723.4	-	7	1373	c.1133T>A	c.(1132-1134)cTa>cAa	p.L378Q		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	378	RRM 1.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGTTTCTCTAGTTTAATTTC	0.378000													7	128					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841740	5841740	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:5841740C>A	ENST00000317037.2	+	1	197	c.175C>A	c.(175-177)Cgg>Agg	p.R59R	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H53_F64del(1)|p.R59G(1)|p.R59R(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCCTGCACCGGCCCATGTA	0.522000													136	225					1.08273e-52	1.25788e-52	1	1	0
RGAG1	57529	broad.mit.edu	37	X	109697002	109697002	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:109697002G>C	ENST00000465301.2	+	3	3403	c.3157G>C	c.(3157-3159)Ggc>Cgc	p.G1053R	RGAG1_ENST00000540313.1_Missense_Mutation_p.G1053R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1053										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGATGTGGCATGGGTAT	0.532000													6	339					0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35449946	35449946	+	RNA	SNP	G	G	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:35449946G>C	ENST00000430846.1	+	0	2796																											CAGTGTCCCAGAAGCCCAGTC	0.403000													42	100					0	0	1	0	0
XBP1	7494	broad.mit.edu	37	22	29193181	29193181	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:29193181A>C	ENST00000216037.6	-	3	409	c.337T>G	c.(337-339)Ttg>Gtg	p.L113V	XBP1_ENST00000405219.3_Missense_Mutation_p.L63V|XBP1_ENST00000403532.3_Missense_Mutation_p.L118V|XBP1_ENST00000344347.5_Missense_Mutation_p.L113V	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	113	Leucine-zipper.				immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TTTTCTAGCAAAAGTTTTTGG	0.383000													3	48					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140948382	140948382	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:140948382G>A	ENST00000277549.5	+	27	4049	c.1480G>A	c.(1480-1482)Gtc>Atc	p.V494I	CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1299I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1299I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1298I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1298I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1298					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATATTTGCCGTCATTGCGGT	0.493000													5	675					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13776512	13776512	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:13776512G>T	ENST00000380567.1	+	16	2051	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	OFD1_ENST00000340096.6_Missense_Mutation_p.K533N|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.K493N			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	533					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.K533N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTTCTGTAAAGAGTTTAACTA	0.343000													7	61					4.68919e-08	5.0746e-08	1	1	0
SORL1	6653	broad.mit.edu	37	11	121437700	121437700	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:121437700C>A	ENST00000260197.7	+	22	3230	c.3101C>A	c.(3100-3102)gCc>gAc	p.A1034D	SORL1_ENST00000525532.1_5'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1034	EGF-like.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.A1034D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGCCCAAGGCCAACAACAGT	0.567000													13	110					0.000219431	0.000231134	1	1	0
GEMIN5	25929	broad.mit.edu	37	5	154278145	154278145	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:154278145G>A	ENST00000285873.7	-	23	3275	c.3200C>T	c.(3199-3201)tCa>tTa	p.S1067L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1067					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.S1067L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTTCTAAGTGATGCCGCATC	0.478000													4	65					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907356	12907356	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:12907356C>T	ENST00000317869.6	-	2	1012	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.G263R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGTCATCCCCCTGATCTTCA	0.502000													120	344					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38163910	38163910	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:38163910G>A	ENST00000346219.3	+	36	5172	c.5151G>A	c.(5149-5151)ccG>ccA	p.P1717P	DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000308059.6_3'UTR	NM_007337.2	NP_031363.2	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	0					negative regulation of cell proliferation	cytoplasm		p.P1717P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTGAGGCTCCGCCCCAGCCCT	0.612000													47	19					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46632338	46632338	+	Missense_Mutation	SNP	A	A	T	rs150895932		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr13:46632338A>T	ENST00000181383.4	-	9	991	c.975T>A	c.(973-975)agT>agA	p.S325R	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.S288R|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	325		Cleavage; by thrombin.			blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTTTGCTTTTACTTCGTGTAT	0.328000													6	212					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134741	114134741	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:114134741A>T	ENST00000259335.4	-	43	5029	c.5030T>A	c.(5029-5031)tTa>tAa	p.L1677*	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.L1499*	NM_001080398.1	NP_001073867.1			KIAA0368									p.L1677*(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTCGGTCCATAAATTACATTC	0.398000													109	206					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148444	129148444	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:129148444C>A	ENST00000540052.1	+	3	1740	c.1696C>A	c.(1696-1698)Cct>Act	p.P566T	BCORL1_ENST00000303743.5_Missense_Mutation_p.P566T|BCORL1_ENST00000359304.2_Missense_Mutation_p.P566T|BCORL1_ENST00000218147.7_Missense_Mutation_p.P566T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	566	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.P566T(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AACTCCACAGCCTCTGCTGCC	0.632000													55	74					2.80097e-13	3.13127e-13	1	1	0
XKR7	343702	broad.mit.edu	37	20	30556225	30556225	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr20:30556225C>G	ENST00000217299.3	+	1	421	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	83						integral to membrane		p.L83V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCCTACTACCTGCAGAATCA	0.622000													24	84					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	51					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59910566	59910566	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:59910566G>A	ENST00000396065.1	+	3	577	c.129G>A	c.(127-129)gaG>gaA	p.E43E	GCNT3_ENST00000560585.1_Silent_p.E43E	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	43					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.E43E(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGTCTGGAGTCCAGGGAAT	0.488000													56	58					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462356	66462356	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:66462356G>A	ENST00000404260.3	+	29	7666	c.7358G>A	c.(7357-7359)cGa>cAa	p.R2453Q	MAST4_ENST00000403666.1_Missense_Mutation_p.R2261Q|MAST4_ENST00000403625.2_Missense_Mutation_p.R2450Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R2256Q|MAST4_ENST00000405643.1_Missense_Mutation_p.R2271Q			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2453						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R2453Q(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGTTCTTTCCGATCCACGGCC	0.632000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533534	169533534	+	Splice_Site	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:169533534G>A	ENST00000449804.2	+	1	618	c.574_splice	c.e1+1	p.P191_splice	FOXI1_ENST00000306268.6_Splice_Site_p.P191_splice	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	191					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACGACCCGGGTAAGGAGG	0.592000									Pendred syndrome				3	139					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219691750	219691750	+	Silent	SNP	G	G	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:219691750G>T	ENST00000439262.2	-	10	1089	c.994C>A	c.(994-996)Cga>Aga	p.R332R	PRKAG3_ENST00000529249.1_Silent_p.R357R|PRKAG3_ENST00000545803.1_Silent_p.R173R|PRKAG3_ENST00000392098.3_Silent_p.S341S	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	357	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAAGTCTCGGAATGTGCCG	0.592000													4	343					0.150653	0.151292	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72822456	72822456	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:72822456A>T	ENST00000268489.5	-	10	10391	c.9719T>A	c.(9718-9720)gTa>gAa	p.V3240E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V2326E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3240					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTCTCCTTTACTTTCTCACT	0.607000													6	520					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495177	32495177	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:32495177A>T	ENST00000266088.4	+	12	1538	c.1288A>T	c.(1288-1290)Atc>Ttc	p.I430F	SLC5A1_ENST00000543737.1_Missense_Mutation_p.I303F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	430					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CAGGTTGTTTATCCTGGTGCT	0.368000													6	364					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670151	158670151	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:158670151G>A	ENST00000359610.2	-	1	335	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACATCTGCAGGAGACAACCA	0.473000													4	280					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945210	151945210	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:151945210A>T	ENST00000355193.2	-	14	2527	c.2309T>A	c.(2308-2310)tTt>tAt	p.F770Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.F770Y					lysine (K)-specific methyltransferase 2C									p.F770Y(2)									TGATGATGAAAATGATGACTC	0.423000													4	434					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89929985	89929985	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:89929985C>A	ENST00000378247.3	+	11	1720	c.1677C>A	c.(1675-1677)aaC>aaA	p.N559K	SPIRE2_ENST00000393062.2_Missense_Mutation_p.N559K	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	559					transport	cytoplasm|cytoskeleton	actin binding	p.N559K(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TTTTGCAGAACAAGGAGCTCT	0.617000													13	26					6.72482e-11	7.37863e-11	1	1	0
FREM2	341640	broad.mit.edu	37	13	39266437	39266437	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr13:39266437C>T	ENST00000280481.7	+	1	5172	c.4956C>T	c.(4954-4956)gaC>gaT	p.D1652D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1652					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCTGTTGACAACAGTGTCC	0.478000													13	143					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135622826	135622826	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:135622826C>T	ENST00000520727.1	-	5	784	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	ZFAT_ENST00000520356.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.R162Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.R162Q|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000377838.3_Missense_Mutation_p.R174Q	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.R162Q(1)|p.R174Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTTCTGTGACCGTGGTCTTTT	0.448000													4	443					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745083	73745083	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:73745083C>T	ENST00000200181.3	+	27	3460	c.3273C>T	c.(3271-3273)caC>caT	p.H1091H	ITGB4_ENST00000450894.3_Silent_p.H1091H|ITGB4_ENST00000339591.3_Silent_p.H1091H|ITGB4_ENST00000449880.2_Silent_p.H1091H|ITGB4_ENST00000579662.1_Silent_p.H1091H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1091					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.H1091H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGGCCCACCTGGGCCAGC	0.642000													4	13					0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063711	54063711	+	Silent	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:54063711G>A	ENST00000338662.5	-	3	1314	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	ATP5G2_ENST00000602871.1_Silent_p.L21L|ATP5G2_ENST00000549164.1_Silent_p.L21L|ATP5G2_ENST00000394349.3_Silent_p.L78L	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	21					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GGACGGCTCAGCAGCTGTGAG	0.527000													5	226					0	0	1	0	0
PIGM	93183	broad.mit.edu	37	1	160000335	160000335	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:160000335T>A	ENST00000368090.2	-	1	1448	c.1195A>T	c.(1195-1197)Atc>Ttc	p.I399F		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	399					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAACAATTGATAAGAAGAAAG	0.403000													7	215					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69849587	69849587	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:69849587T>A	ENST00000395889.2	-	19	1684		c.e19-2		TEX11_ENST00000374320.2_Splice_Site|TEX11_ENST00000344304.3_Splice_Site|TEX11_ENST00000374333.2_Splice_Site	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11								protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCTGCAAAGCTGAAAAACAAG	0.289000													3	27					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536862	5536862	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:5536862C>T	ENST00000380184.1	-	1	1073	c.810G>A	c.(808-810)ctG>ctA	p.L270L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	270								p.L270L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGTTCTGACCCAGGGCATTAT	0.463000													11	185					0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr13:37015253A>T	ENST00000418263.1	+	7	1445		c.e7-1		CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1						cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393000													4	100					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40277232	40277232	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:40277232A>T	ENST00000309930.5	+	7	529		c.e7-1		C7orf10_ENST00000335693.4_Splice_Site|C7orf10_ENST00000401647.2_Splice_Site	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10								transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTGTTGTTTTAGGGTATGGTC	0.443000													4	165					0	0	1	0	0
GPANK1	7918	broad.mit.edu	37	6	31632107	31632107	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:31632107T>C	ENST00000375906.1	-	3	833	c.149A>G	c.(148-150)gAt>gGt	p.D50G	GPANK1_ENST00000375893.2_Missense_Mutation_p.D50G|GPANK1_ENST00000375895.2_Missense_Mutation_p.D50G|GPANK1_ENST00000375896.4_Missense_Mutation_p.D50G|GPANK1_ENST00000375900.4_Missense_Mutation_p.D50G	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	50						intracellular	nucleic acid binding	p.D50G(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GCTGCTCTCATCCCCAATCAG	0.557000													22	43					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679957	63679957	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:63679957C>T	ENST00000301459.4	-	11	1464	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	359	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G359G(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GAGTCTTGTTCCCAATCACCT	0.542000													4	79					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37821618	37821618	+	Silent	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:37821618T>A	ENST00000309889.2	+	1	1179	c.6T>A	c.(4-6)gcT>gcA	p.A2A	TCAP_ENST00000578283.1_Silent_p.A2A			O15273	TELT_HUMAN	titin-cap	2					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	p.A2A(1)		kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATCATGGCTACCTCAGAGC	0.602000													11	17					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231258	21231258	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:21231258C>G	ENST00000233242.1	-	26	8609	c.8482G>C	c.(8482-8484)Gtg>Ctg	p.V2828L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2828					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGAACTTCACTGACTCCTTC	0.413000													8	348					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353000													4	105					0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.A195T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358000													6	610					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77380396	77380396	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chrX:77380396G>A	ENST00000373316.4	+	9	1129	c.962G>A	c.(961-963)aGc>aAc	p.S321N	PGK1_ENST00000537456.1_Missense_Mutation_p.S293N|PGK1_ENST00000442431.1_Missense_Mutation_p.S185N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	321					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.S321N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CCTGAAAGCAGCAAGAAGTAT	0.502000													44	494					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701064	60701064	+	Silent	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:60701064C>A	ENST00000005286.4	+	8	1563	c.1410C>A	c.(1408-1410)ggC>ggA	p.G470G	TMEM132A_ENST00000453848.2_Silent_p.G469G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	469						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.G470G(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGAGCCGGGGCGCCCGGGGGG	0.692000													7	7					0.00448238	0.00457898	1	1	0
GRIN3B	116444	broad.mit.edu	37	19	1004979	1004979	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:1004979C>T	ENST00000234389.3	+	3	1498	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	493					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	p.F493F(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACACGCCCTTCGACTTCGAGC	0.721000													6	34					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743456	179743456	+	Silent	SNP	C	C	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:179743456C>T	ENST00000253778.8	-	13	1327	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	386	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCAAAACTTGCCGCGTCTGAA	0.507000													4	185					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855726	140855726	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr5:140855726A>G	ENST00000308177.3	+	1	147	c.43A>G	c.(43-45)Agg>Ggg	p.R15G	PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_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)			AAGCACCGGGAGGGTAGTGGG	0.562000													4	323					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33836390	33836390	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:33836390A>T	ENST00000548645.1	+	3	340		c.e3-1		NPAS3_ENST00000551492.1_Intron|NPAS3_ENST00000551008.1_Splice_Site|NPAS3_ENST00000547068.1_Intron|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site|NPAS3_ENST00000346562.2_Intron|NPAS3_ENST00000341321.4_Splice_Site			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTTTCTTTTAAGTTATAGGTG	0.368000													3	30					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15449215	15449215	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:15449215T>A	ENST00000584811.1	-	5	1569	c.154A>T	c.(154-156)Aat>Tat	p.N52Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.N116Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.N116Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.N116Y|TVP23C_ENST00000519970.1_Missense_Mutation_p.N30Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.N116Y|TVP23C_ENST00000225576.3_Missense_Mutation_p.N116Y					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)									p.N116Y(2)									ACAGTTTTATTCTCTTGAGAG	0.323000													14	53					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109554267	109554267	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:109554267T>C	ENST00000357672.3	-	4	692	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	WDR47_ENST00000400794.3_Missense_Mutation_p.Y141C|WDR47_ENST00000369962.3_Missense_Mutation_p.Y134C|WDR47_ENST00000369965.4_Missense_Mutation_p.Y134C|WDR47_ENST00000361054.3_Missense_Mutation_p.Y106C			O94967	WDR47_HUMAN	WD repeat domain 47	134								p.Y134C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GAGCTTACTATAGTCATCTTT	0.398000													17	213					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258476	57258476	+	Splice_Site	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:57258476C>A	ENST00000343433.6	-	2	90	c.9_splice	c.e2-1	p.E4_splice	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	4								p.E4*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTTACCCCTTCCTAAGGCAAA	0.353000													40	307					4.53413e-08	4.92931e-08	1	1	0
DDX52	11056	broad.mit.edu	37	17	35986146	35986146	+	Splice_Site	SNP	T	T	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:35986146T>A	ENST00000349699.2	-	8	976		c.e8-2		DDX52_ENST00000394367.3_Splice_Site	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CACTCAACACTAAGAAATAAC	0.423000													4	37					0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46632347	46632347	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr13:46632347A>T	ENST00000181383.4	-	9	982	c.966T>A	c.(964-966)taT>taA	p.Y322*	CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	322					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TACTTCGTGTATAGGAATATG	0.338000													5	233					0	0	1	0	0
FAM221B	392307	broad.mit.edu	37	9	35825563	35825563	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:35825563A>T	ENST00000423537.2	-	2	865	c.596T>A	c.(595-597)cTa>cAa	p.L199Q	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	199										endometrium(2)|kidney(1)|lung(4)	7						CTTCTTGCCTAGTTGGTGTCC	0.502000													6	486					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115663284	115663284	+	Splice_Site	SNP	A	A	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:115663284A>T	ENST00000369301.3	+	9	1706		c.e9-1			NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2						cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTTCTTTTTTAGATTAAAGTT	0.313000													4	65					0	0	1	0	0
FSTL1	11167	broad.mit.edu	37	3	120122137	120122137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:120122137G>A	ENST00000295633.3	-	8	1002	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	FSTL1_ENST00000424703.2_Nonsense_Mutation_p.Q181*	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	216	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AGAAACTCTTGGAAGCTGAGT	0.428000													3	154					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122845616	122845616	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr12:122845616C>A	ENST00000358808.2	-	5	1049	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	CLIP1_ENST00000361654.4_Missense_Mutation_p.V299L|CLIP1_ENST00000302528.7_Missense_Mutation_p.V299L|CLIP1_ENST00000540338.1_Missense_Mutation_p.V299L|CLIP1_ENST00000537178.1_Missense_Mutation_p.V299L|CLIP1_ENST00000545889.1_5'UTR	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	299					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCGCCATCACTCGCCTCACT	0.587000													11	91					0.000566183	0.000588533	1	1	0
PRAMEF26	645359	broad.mit.edu	37	1	13219469	13219470	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:13219469_13219470insT	ENST00000423177.1	-	1	111_112	c.112_113insA	c.(112-114)cagfs	p.Q38fs																	breast(1)|lung(1)	2						TCCTGCACTGGTTTTTTGTTCC	0.505													8	1775	---	---	---	---					
NBPF3	84224	broad.mit.edu	37	1	21804665	21804666	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:21804665_21804666insC	ENST00000318220.6	+	12	1901_1902	c.853_854insC	c.(853-855)cccfs	p.P285fs	NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.P366fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.P341fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.P271fs			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	341	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAGGAGGAAGCCCCCCAGGAG	0.500													9	651	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	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													21	578	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													10	490	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													14	208	---	---	---	---					
PHC2	1912	broad.mit.edu	37	1	33799791	33799792	+	Frame_Shift_Ins	INS	-	-	G	rs34753508		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:33799791_33799792insG	ENST00000257118.5	-	9	1710_1711	c.1657_1658insC	c.(1657-1659)gaafs	p.E553fs	PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	553					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCACCATTCTGGGGGGCAGTG	0.589													7	382	---	---	---	---					
AGO1	26523	broad.mit.edu	37	1	36359331	36359332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:36359331_36359332insG	ENST00000373204.4	+	5	782_783	c.569_570insG	c.(568-570)cggfs	p.R190fs	AGO1_ENST00000373206.1_Frame_Shift_Ins_p.R115fs	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TACCACCCGCTGGGGGGTGGGC	0.634													7	194	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:42050006_42050007insG	ENST00000372584.1	-	3	1476_1477	c.462_463insC	c.(460-465)ccaggafs	p.G155fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604													7	456	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				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						TTCAGTATCTTGGGGGGCGACT	0.609													13	515	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													11	1567	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	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													18	429	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					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)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								15	434	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1518)cccfs	p.P506fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.500													7	152	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													21	459	---	---	---	---					
CDC14A	8556	broad.mit.edu	37	1	100889836	100889837	+	Frame_Shift_Ins	INS	-	-	C	rs138415707		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:100889836_100889837insC	ENST00000370125.2	+	5	856_857	c.368_369insC	c.(367-369)accfs	p.T123fs	CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.T65fs|CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000336454.3_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000370124.3_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000469387.1_3'UTR			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTATC	0.401													7	88	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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	700	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs			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													18	221	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													16	400	---	---	---	---					
SELENBP1	8991	broad.mit.edu	37	1	151338280	151338281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:151338280_151338281insG	ENST00000435071.1	-	8	1155_1156	c.693_694insC	c.(691-696)ccagaafs	p.E232fs	SELENBP1_ENST00000447402.3_Frame_Shift_Ins_p.E234fs|SELENBP1_ENST00000368868.5_Frame_Shift_Ins_p.E296fs|SELENBP1_ENST00000426705.2_Frame_Shift_Ins_p.E338fs			Q13228	SBP1_HUMAN	selenium binding protein 1	296					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			TTCACTTTCTTGGGGGGCACCT	0.545													7	429	---	---	---	---					
LCE1F	353137	broad.mit.edu	37	1	152748933	152748934	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:152748933_152748934insC	ENST00000334371.2	+	1	86_87	c.86_87insC	c.(85-87)tccfs	p.S29fs		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	29	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			acaccgaagtgccccccaaagt	0.658													7	156	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				11	264	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:156708444_156708445insG	ENST00000368211.4	-	2	190_191	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	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													9	232	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													11	454	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													8	1134	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													10	503	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			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						TTGTGTGTAATCCCCCCCAGTG	0.470													38	666	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													14	486	---	---	---	---					
FMOD	2331	broad.mit.edu	37	1	203316599	203316600	+	Frame_Shift_Ins	INS	-	-	C	rs139730140	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:203316599_203316600insC	ENST00000354955.4	-	2	1262_1263	c.799_800insG	c.(799-801)gccfs	p.A267fs	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGCTTGGGCGCCCCCCGGAAG	0.579													8	334	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													7	803	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)cacfs	p.H274fs	TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579													7	195	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													7	285	---	---	---	---					
OR14I1	401994	broad.mit.edu	37	1	248844881	248844882	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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	225	---	---	---	---					
FBXO48	554251	broad.mit.edu	37	2	68691369	68691370	+	Frame_Shift_Ins	INS	-	-	C	rs36078393		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:68691369_68691370insC	ENST00000377957.2	-	4	846_847	c.439_440insG	c.(439-441)aatfs	p.N147fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGTA	0.386													7	257	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				8	447	---	---	---	---					
DYSF	8291	broad.mit.edu	37	2	71839796	71839797	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:71839796_71839797insC	ENST00000258104.3	+	39	4470_4471	c.4193_4194insC	c.(4192-4194)tccfs	p.S1398fs	DYSF_ENST00000409762.1_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Frame_Shift_Ins_p.S1398fs|DYSF_ENST00000410020.3_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000413539.2_Frame_Shift_Ins_p.S1429fs|DYSF_ENST00000410041.1_Frame_Shift_Ins_p.S1416fs|DYSF_ENST00000409651.1_Frame_Shift_Ins_p.S1430fs|DYSF_ENST00000409582.3_Frame_Shift_Ins_p.S1415fs|DYSF_ENST00000409366.1_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000394120.2_Frame_Shift_Ins_p.S1399fs|DYSF_ENST00000409744.1_Frame_Shift_Ins_p.S1385fs	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													13	113	---	---	---	---					
DCTN1	1639	broad.mit.edu	37	2	74593376	74593377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:74593376_74593377insG	ENST00000361874.3	-	23	3071_3072	c.2754_2755insC	c.(2752-2757)ccgcaafs	p.Q919fs	DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs|DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	919					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTACCTTGCTGGGGGGCCGCT	0.559													10	855	---	---	---	---					
HK2	3099	broad.mit.edu	37	2	75104377	75104378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:75104377_75104378insG	ENST00000290573.2	+	8	1560_1561	c.960_961insG	c.(958-963)ttggggfs	p.LG320fs	HK2_ENST00000409174.1_Frame_Shift_Ins_p.LG292fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	320	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTGCTCTTTGGGGGGAAGCT	0.545													7	540	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128707524	128707525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:128707524_128707525insG	ENST00000357702.5	-	18	2924_2925	c.2793_2794insC	c.(2791-2796)ccttacfs	p.Y932fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.Y905fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.Y897fs	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													9	820	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													13	302	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			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													11	340	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													13	308	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													17	498	---	---	---	---					
ALS2	57679	broad.mit.edu	37	2	202588159	202588160	+	Frame_Shift_Ins	INS	-	-	C	rs41309046		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													8	333	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													11	119	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs|RUFY4_ENST00000463872.1_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													8	187	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													11	163	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)gggfs	p.G853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579													7	157	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								7	107	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	28	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1837-1842)agccccfs	p.SP613fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	613					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421													12	160	---	---	---	---					
SEMA3B	7869	broad.mit.edu	37	3	50311901	50311902	+	RNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:50311901_50311902insG	ENST00000418948.1	+	0	1479_1480							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCTGCCCACTGGGGGGCGCCC	0.564											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	132	---	---	---	---					
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:63981831_63981832insC	ENST00000398590.3	+	12	2886_2887	c.2333_2334insC	c.(2332-2334)gccfs	p.A778fs	ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545													7	97	---	---	---	---					
GTF2E1	2960	broad.mit.edu	37	3	120469723	120469724	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:120469723_120469724delCC	ENST00000283875.5	+	2	417_418	c.324_325delCC	c.(322-327)gaacfs	p.DH108fs		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	108					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ATAAACTGGACCACATGAGAAG	0.421													8	225	---	---	---	---					
ZXDC	79364	broad.mit.edu	37	3	126180565	126180566	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:126180565_126180566insG	ENST00000389709.3	-	6	1992_1993	c.1939_1940insC	c.(1939-1941)agafs	p.R647fs	ZXDC_ENST00000336332.5_Frame_Shift_Ins_p.R647fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	647	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGCATTTTCTCGGGGGGTGCTC	0.579													7	185	---	---	---	---					
TMEM108	66000	broad.mit.edu	37	3	133098871	133098872	+	Frame_Shift_Ins	INS	-	-	C	rs143911768	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:133098871_133098872insC	ENST00000515826.1	+	3	439_440	c.316_317insC	c.(316-318)cccfs	p.P106fs	TMEM108_ENST00000321871.6_Frame_Shift_Ins_p.P106fs|TMEM108_ENST00000393130.3_Frame_Shift_Ins_p.P106fs|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	106	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GACAGTAACCGCCCCCCATTCT	0.673													7	215	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142168328	142168328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr3:142168328delT	ENST00000350721.4	-	47	7999	c.7878delA	c.(7876-7878)gafs	p.E2626fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.E2562fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2626	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATCAGTAGCTTCCTGTATAA	0.348								Other conserved DNA damage response genes					40	87	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:25005320_25005321insC	ENST00000382114.4	-	8	1575_1576	c.1390_1391insG	c.(1390-1392)catfs	p.H464fs		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	464						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGGGTCATGGCCCCCCGGGAT	0.515													7	339	---	---	---	---					
CWH43	80157	broad.mit.edu	37	4	48988462	48988462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:48988462delA	ENST00000226432.4	+	1	199	c.16delA	c.(16-18)gafs	p.R6fs		NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	6					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCGCTGTGGAGAGAAATCCT	0.721													2	4	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													9	153	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													7	617	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134071967	134071968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr4:134071967_134071968insC	ENST00000264360.4	+	1	1498_1499	c.672_673insC	c.(670-675)ctccccfs	p.LP224fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		gagcaggCCTGCCCCCCCAGCA	0.668													9	76	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)gtcfs	p.V1225fs	MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													23	216	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													7	168	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													8	795	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													8	183	---	---	---	---					
PCSK1	5122	broad.mit.edu	37	5	95746639	95746640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:95746639_95746640insC	ENST00000311106.3	-	8	1170_1171	c.933_934insG	c.(931-936)gggtcafs	p.S312fs	PCSK1_ENST00000513085.1_Intron|PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	312	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R312C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTCCCTGACGCCCCCCGTTTC	0.530													9	421	---	---	---	---					
CHD1	1105	broad.mit.edu	37	5	98193965	98193966	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:98193965_98193966insT	ENST00000284049.3	-	34	4854_4855	c.4705_4706insA	c.(4705-4707)tgafs	p.*1569fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1569					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)	CCTGGAATCACTTTTTTTGTAA	0.406													7	383	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													11	361	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	152					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574													11	225	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139193287	139193288	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:139193287_139193288insG	ENST00000274710.3	+	3	970_971	c.765_766insG	c.(763-768)ccggggfs	p.PG255fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	255					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGGCCCAGGGGGGGATGA	0.614													7	295	---	---	---	---					
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)gggfs	p.G62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.510													7	276	---	---	---	---					
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)agcfs	p.S462fs	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589													7	231	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													8	924	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													19	489	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs144353509		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:141694153_141694154insG	ENST00000344120.4	-	3	775_776	c.589_590insC	c.(589-591)gacfs	p.D197fs	SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of				8	683	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													8	1048	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													11	506	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													11	594	---	---	---	---					
WRNIP1	56897	broad.mit.edu	37	6	2785351	2785352	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:2785351_2785352insC	ENST00000380769.4	+	7	1404_1405	c.1173_1174insC	c.(1171-1176)ctccccfs	p.LP391fs	WRNIP1_ENST00000380773.4_Frame_Shift_Ins_p.LP611fs|WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.LP586fs|WRNIP1_ENST00000380764.1_Frame_Shift_Ins_p.LP227fs			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	611					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGGGGCCACTGCCCCCCGTGCC	0.584													7	228	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													14	352	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs			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													15	320	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													10	286	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													10	1276	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000483013.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR			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													11	315	---	---	---	---					
RNF39	80352	broad.mit.edu	37	6	30040952	30040952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:30040952delT	ENST00000244360.6	-	3	761	c.664delA	c.(664-666)tgfs	p.M222fs	RNF39_ENST00000376751.3_Frame_Shift_Del_p.M222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY.					cytoplasm	zinc ion binding										CTATGAAGCATTTTTTTGACC	0.408													8	1069	---	---	---	---					
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:30610713_30610714insC	ENST00000376483.4	+	10	903_904	c.893_894insC	c.(892-894)tccfs	p.S298fs	ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	298							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658													9	500	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31617054	31617055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31617054_31617055insG	ENST00000404765.2	-	4	633_634	c.344_345insC	c.(343-345)cggfs	p.R115fs	BAG6_ENST00000375976.4_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.R115fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCGAGTACCAGGGGGGGATCC	0.594													7	181	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	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													11	523	---	---	---	---					
VARS	7407	broad.mit.edu	37	6	31759454	31759455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31759454_31759455insG	ENST00000375663.3	-	8	1472_1473	c.1032_1033insC	c.(1030-1035)ccatgtfs	p.C345fs	VARS_ENST00000444930.2_Frame_Shift_Ins_p.C50fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	345					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCTGTCACATTGGGGGGTGGGA	0.564													12	340	---	---	---	---					
CFB	629	broad.mit.edu	37	6	31911214	31911215	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:31911214_31911215insG	ENST00000456570.1	+	9	1073_1074	c.1018_1019insG	c.(1018-1020)gggfs	p.G340fs	C2_ENST00000442278.2_Frame_Shift_Ins_p.G361fs|C2_ENST00000469372.1_Frame_Shift_Ins_p.G247fs|CFB_ENST00000556679.1_Frame_Shift_Ins_p.G340fs|C2_ENST00000452323.2_Frame_Shift_Ins_p.G279fs|CFB_ENST00000477310.1_Frame_Shift_Ins_p.G264fs|C2_ENST00000299367.5_Frame_Shift_Ins_p.G493fs			P00751	CFAB_HUMAN	complement factor B	512	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGAGACCTGCCGGGGGGCCCTC	0.589													7	363	---	---	---	---					
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gctfs	p.A158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCTATGAGCTCCCCCCAAGTT	0.589													10	393	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34839368	34839369	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:34839368_34839369insC	ENST00000192788.5	+	19	4160_4161	c.3989_3990insC	c.(3988-3990)accfs	p.T1330fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.T1330fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGATGATATCCCCCCCATCT	0.515													11	196	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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				10	214	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42237000	42237001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:42237000_42237001insC	ENST00000541110.1	-	5	896_897	c.328_329insG	c.(328-330)accfs	p.T110fs	TRERF1_ENST00000372922.4_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.T110fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.T110fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	110					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)			CTGGGCTGGTGCCCCCCACATC	0.584													9	566	---	---	---	---					
TTBK1	84630	broad.mit.edu	37	6	43250627	43250628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:43250627_43250628insC	ENST00000259750.4	+	14	2232_2233	c.2149_2150insC	c.(2149-2151)cccfs	p.P717fs		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	717						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)			GCTGCTCACCACCCCCCAGGTC	0.589													7	173	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		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)			ATTGGAGGACTCCCCCCCTTGT	0.564													10	311	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													16	452	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					26	299	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													7	194	---	---	---	---					
DAGLB	221955	broad.mit.edu	37	7	6474590	6474591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:6474590_6474591insC	ENST00000297056.6	-	4	649_650	c.480_481insG	c.(478-483)ggaaatfs	p.N161fs	DAGLB_ENST00000428902.2_Frame_Shift_Ins_p.N34fs|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Ins_p.N120fs|DAGLB_ENST00000421761.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	161					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGAGCCATTTTCCCCCCAAGAG	0.525													7	244	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6759412	6759413	+	RNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:6759412_6759413insG	ENST00000486256.1	+	0	346					NR_002217.1																						GTGTGCCTCCCGGGGGGGAGGT	0.569													7	106	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													8	236	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													12	380	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													19	345	---	---	---	---					
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:100802404_100802405insG	ENST00000337619.5	+	4	474_475	c.356_357insG	c.(355-357)aggfs	p.R119fs		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	119					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGTTTTTGATGGGGGGGGATG	0.564													12	161	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	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													7	1585	---	---	---	---					
OR9A4	130075	broad.mit.edu	37	7	141618774	141618776	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:141618774_141618776delCTA	ENST00000548136.1	+	1	158_160	c.99_101delCTA	c.(97-102)ttc>tt	p.FY33del	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TCTTCTTTTTCTACTTGGTGACA	0.414													7	813	---	---	---	---					
TRBV7-6	28592	broad.mit.edu	37	7	142139683	142139684	+	RNA	INS	-	-	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:142139683_142139684insA	ENST00000390374.3	-	0	94																											cctacacacaGAAAAAAAAATG	0.490													8	165	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													9	488	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													20	1162	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	13356858	13356859	+	Frame_Shift_Ins	INS	-	-	G	rs149776829		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:13356858_13356859insG	ENST00000276297.4	-	2	1131_1132	c.722_723insC	c.(721-723)caafs	p.Q241fs	DLC1_ENST00000511869.1_Frame_Shift_Ins_p.Q241fs|DLC1_ENST00000316609.5_Frame_Shift_Ins_p.Q241fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	241					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.P241H(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTCATCTTTAGGGGGGTCAGG	0.391													7	490	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													9	713	---	---	---	---					
PTK2B	2185	broad.mit.edu	37	8	27255133	27255147	+	In_Frame_Del	DEL	TAAAGTTGGGCACGT	TAAAGTTGGGCACGT	-	rs1045511	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:27255133_27255147delTAAAGTTGGGCACGT	ENST00000397501.1	+	7	840_854	c.32_46delTAAAGTTGGGCACGT	c.(31-48)gta>g	p.VKLGTL11del	PTK2B_ENST00000420218.2_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000544172.1_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000517339.1_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000346049.5_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000338238.4_In_Frame_Del_p.VKLGTL11del	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	11					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTGAGTCGAGTAAAGTTGGGCACGTTACGCCGGCC	0.572													7	432	---	---	---	---					
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr8:37793280_37793281insG	ENST00000307599.4	-	7	969_970	c.870_871insC	c.(868-873)ccacacfs	p.H291fs	GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.H32fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTTA	0.609													14	149	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_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													7	85	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141554344	141554345	+	Frame_Shift_Ins	INS	-	-	G	rs148575703	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													13	394	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:14823286_14823287insG	ENST00000380881.4	-	14	3026_3027	c.2211_2212insC	c.(2209-2214)cctgcafs	p.A738fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441													7	623	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													18	256	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)ccgtgafs	p.*130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525													7	502	---	---	---	---					
KGFLP2	654466	broad.mit.edu	37	9	41962753	41962756	+	RNA	DEL	GAAA	GAAA	-	rs138206184	by1000genomes	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:41962753_41962756delGAAA	ENST00000454645.1	-	0	757					NR_003670.1																						TCCTTCTGTTGaaacaaacaaaca	0.343													3	4	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													7	211	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													15	333	---	---	---	---					
MAN1B1	11253	broad.mit.edu	37	9	139995547	139995548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr9:139995547_139995548insG	ENST00000371589.4	+	7	1080_1081	c.1007_1008insG	c.(1006-1008)cggfs	p.R336fs	MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.R39fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	336					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTCC	0.540													10	260	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)cagfs	p.Q1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535													12	249	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:24822125_24822127delGAA	ENST00000376451.2	+	11	2682_2684	c.2422_2424delGAA	c.(2422-2424)del	p.E812del	KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del			Q5T5P2	SKT_HUMAN	KIAA1217	1129					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						GGATGAGGAGGAAGAAGAAGAAG	0.552													7	472	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													13	211	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46967610	46967611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:46967610_46967611insC	ENST00000374323.3	-	3	1212_1213	c.625_626insG	c.(625-627)atafs	p.I209fs	SYT15_ENST00000374325.3_Frame_Shift_Ins_p.I156fs|SYT15_ENST00000374321.4_Frame_Shift_Ins_p.I156fs|SYT15_ENST00000503753.1_Frame_Shift_Ins_p.I156fs			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	156	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTGCTCATATTCCACCGAGAAC	0.624													15	77	---	---	---	---					
FRMPD2	143162	broad.mit.edu	37	10	49371420	49371420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:49371420delC	ENST00000374201.3	-	28	4134	c.3832delG	c.(3832-3834)atfs	p.D1278fs	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.D230fs|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.D1246fs|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.D1253fs	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1278					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGCCTCACATCCTTTTCCAAA	0.423													15	559	---	---	---	---					
CCDC6	8030	broad.mit.edu	37	10	61666039	61666040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:61666039_61666040insC	ENST00000263102.6	-	1	374_375	c.143_144insG	c.(142-144)gatfs	p.D48fs		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	48						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		AGATGACAATGCCCCCCGACTT	0.678			T	RET	NSCLC								7	183	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000535742.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													23	640	---	---	---	---					
PCGF5	84333	broad.mit.edu	37	10	93011143	93011144	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:93011143_93011144delTA	ENST00000336126.5	+	6	652_653	c.420_421delTA	c.(418-423)gctcfs	p.AI140fs	PCGF5_ENST00000543648.1_Frame_Shift_Del_p.AI140fs	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CACAAATTGCTATCTGTCTAGA	0.337													146	282	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104164414	104164415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:104164414_104164415insG	ENST00000020673.5	-	15	3151_3152	c.2625_2626insC	c.(2623-2628)cctcccfs	p.P876fs	PSD_ENST00000406432.1_Frame_Shift_Ins_p.P876fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	876					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAGCTGGGAAGGGGGGCGCAG	0.609													7	726	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													9	127	---	---	---	---					
EIF3A	8661	broad.mit.edu	37	10	120801890	120801891	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:120801890_120801891insC	ENST00000369144.3	-	19	3268_3269	c.3141_3142insG	c.(3139-3144)ggcgagfs	p.E1048fs	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Frame_Shift_Ins_p.E1014fs	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1048	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCTCGCCTCGGCCCCCGGTCAT	0.604													7	1585	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													10	180	---	---	---	---					
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-873)accfs	p.T291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406													8	1305	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604													8	604	---	---	---	---					
PTPN5	84867	broad.mit.edu	37	11	18751285	18751286	+	Frame_Shift_Ins	INS	-	-	G	rs138509696		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:18751285_18751286insG	ENST00000396170.1	-	13	2577_2578	c.1313_1314insC	c.(1312-1314)cctfs	p.P438fs	PTPN5_ENST00000396167.2_Frame_Shift_Ins_p.P438fs|PTPN5_ENST00000477854.1_Frame_Shift_Ins_p.P274fs|PTPN5_ENST00000396168.1_Frame_Shift_Ins_p.P446fs|PTPN5_ENST00000396166.3_Frame_Shift_Ins_p.P76fs|PTPN5_ENST00000396171.4_Frame_Shift_Ins_p.P470fs|PTPN5_ENST00000358540.2_Frame_Shift_Ins_p.P470fs|RP11-1081L13.4_ENST00000527285.1_RNA	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	470	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTGCAGGAGTGGGGGGGCCCG	0.678													7	70	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				7	166	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													8	790	---	---	---	---					
TNKS1BP1	85456	broad.mit.edu	37	11	57077336	57077336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57077336delT	ENST00000532437.1	-	5	3160	c.2849delA	c.(2848-2850)cgfs	p.Q950fs	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.Q950fs			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	950	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCAAACTCCTGTTCCTGTGG	0.592													91	181	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	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													8	408	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					11	115	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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_ENST00000278893.7_Intron|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs			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													10	192	---	---	---	---					
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)gggfs	p.G79fs	RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579													9	341	---	---	---	---					
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)gaafs	p.E132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	AGGGGTTCTTGCCCCCCAGCTC	0.644													13	626	---	---	---	---					
KCTD21	283219	broad.mit.edu	37	11	77885567	77885568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:77885567_77885568insC	ENST00000340067.3	-	2	311_312	c.33_34insG	c.(31-36)ggagctfs	p.A12fs	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	12	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTATAGAGCTTCCCCCCGACGT	0.574													7	224	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													9	172	---	---	---	---					
LOC643733	643733	broad.mit.edu	37	11	104778247	104778248	+	RNA	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:104778247_104778248insC	ENST00000532510.1	-	0	1184_1185																											TTCCACACATTCCCCCCAGGAT	0.505													7	199	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|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													13	902	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs			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													8	419	---	---	---	---					
CCDC153	283152	broad.mit.edu	37	11	119061042	119061043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													8	278	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													12	1044	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													7	169	---	---	---	---					
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(736-741)atggggfs	p.MG246fs	JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485													12	316	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045534	7045535	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:7045534_7045535insC	ENST00000356654.4	+	5	1341_1342	c.1104_1105insC	c.(1102-1107)gcccccfs	p.AP368fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.AP368fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	368					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						CTGCTCCAGCGCCCCCCATGAG	0.589													7	409	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				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)	TTCTGCTCCTGCCCCCCGGAAT	0.455													10	429	---	---	---	---					
CLSTN3	9746	broad.mit.edu	37	12	7288059	7288060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:7288059_7288060insC	ENST00000537408.1	+	3	1094_1095	c.556_557insC	c.(556-558)cccfs	p.P186fs	CLSTN3_ENST00000266546.6_Frame_Shift_Ins_p.P174fs			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	174	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CGGTGACTGCTCCCCCCAGTAC	0.574													38	1219	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													25	1035	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													10	204	---	---	---	---					
EIF4B	1975	broad.mit.edu	37	12	53427591	53427592	+	Splice_Site	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:53427591_53427592insC	ENST00000262056.9	+	9	1307_1308	c.979_splice	c.e9-1	p.GP327_splice	EIF4B_ENST00000420463.3_Splice_Site_p.GP327_splice|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Splice_Site_p.GP288_splice	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	327	Arg-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TTAACTTAGGTCCCCCCCAAAG	0.426													9	73	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													22	2913	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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	263	---	---	---	---					
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)ggtfs	p.G281fs	STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639													11	173	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57556222	57556223	+	Frame_Shift_Ins	INS	-	-	C	rs34108076		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57556222_57556223insC	ENST00000243077.3	+	14	2791_2792	c.2325_2326insC	c.(2323-2328)gcccccfs	p.AP775fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	775					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)	TAGGAGGCGCACCCCCCACTGT	0.604													11	332	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													17	323	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													42	940	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													10	269	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													13	947	---	---	---	---					
SLC26A10	65012	broad.mit.edu	37	12	58014153	58014154	+	Frame_Shift_Ins	INS	-	-	C	rs143040192		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:58014153_58014154insC	ENST00000379218.2	+	1	461_462	c.150_151insC	c.(148-153)gtccccfs	p.VP50fs	SLC26A10_ENST00000320442.4_Frame_Shift_Ins_p.VP50fs			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	50						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGGCCTCCGTGCCCCCGGTGTT	0.564													10	2670	---	---	---	---					
CDK4	1019	broad.mit.edu	37	12	58143030	58143031	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:58143030_58143031insG	ENST00000257904.6	-	7	1118_1119	c.753_754insC	c.(751-756)ccgaggfs	p.R252fs	CDK4_ENST00000551888.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Frame_Shift_Ins_p.R132fs|CDK4_ENST00000312990.6_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	252	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGGGCCCTCTGGGGGGAAAGG	0.624			Mis			melanoma			Hereditary Melanoma				7	246	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000545204.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								26	376	---	---	---	---					
E2F7	144455	broad.mit.edu	37	12	77419716	77419717	+	Frame_Shift_Ins	INS	-	-	G	rs36042830		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:77419716_77419717insG	ENST00000322886.7	-	12	2421_2422	c.2186_2187insC	c.(2185-2187)cacfs	p.H729fs	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	729					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGCCCACAGTAGGGGGGGTTTG	0.465													7	59	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_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)			15	277	---	---	---	---					
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													7	399	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													8	172	---	---	---	---					
ALDH2	217	broad.mit.edu	37	12	112229926	112229927	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:112229926_112229927insG	ENST00000261733.2	+	8	918_919	c.857_858insG	c.(856-858)cggfs	p.R286fs	ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.R239fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAGA	0.574			T	HMGA2	leiomyoma								7	99	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													21	359	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													13	971	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													8	206	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													18	321	---	---	---	---					
SBNO1	55206	broad.mit.edu	37	12	123805033	123805034	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr12:123805033_123805034insG	ENST00000420886.2	-	18	2611_2612	c.2612_2613insC	c.(2611-2613)caafs	p.Q871fs	SBNO1_ENST00000267176.4_Frame_Shift_Ins_p.Q870fs|SBNO1_ENST00000602750.1_Frame_Shift_Ins_p.Q870fs|SBNO1_ENST00000602398.1_Frame_Shift_Ins_p.Q871fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	871							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCAGGGTATTAGGGGGGAGGTC	0.450													7	254	---	---	---	---					
STARD13	90627	broad.mit.edu	37	13	33704105	33704106	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:33704105_33704106insG	ENST00000336934.5	-	5	824_825	c.708_709insC	c.(706-711)ccgagafs	p.R237fs	STARD13_ENST00000255486.4_Frame_Shift_Ins_p.R229fs|STARD13_ENST00000399365.3_Frame_Shift_Ins_p.R119fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	237					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGACATCTCTGGGGGGCTGTG	0.609													7	203	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													20	254	---	---	---	---					
LCP1	3936	broad.mit.edu	37	13	46721051	46721052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:46721051_46721052insC	ENST00000398576.2	-	13	1553_1554	c.1165_1166insG	c.(1165-1167)tctfs	p.S389fs	LCP1_ENST00000323076.2_Frame_Shift_Ins_p.S389fs			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	389	Actin-binding 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	p.A389fs*16(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACCTTCAAGAGCCCCCCAGTCA	0.441			T	BCL6	NHL								9	401	---	---	---	---					
STK24	8428	broad.mit.edu	37	13	99114124	99114125	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:99114124_99114125insC	ENST00000397517.2	-	8	1032_1033	c.956_957insG	c.(955-957)gagfs	p.E319fs	STK24_ENST00000376547.3_Frame_Shift_Ins_p.E331fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.E300fs	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	331					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAATCACTGCCCCCCGAGGC	0.535													8	278	---	---	---	---					
METTL21C	196541	broad.mit.edu	37	13	103343225	103343226	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr13:103343225_103343226insA	ENST00000267273.6	-	2	224_225	c.219_220insT	c.(217-222)ttcaggfs	p.R74fs		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	74							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TCCTTTCCTGCAAACCGATAAT	0.460													75	134	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													14	191	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000538754.1_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													8	203	---	---	---	---					
LOC101929735	101929735	broad.mit.edu	37	14	22944386	22944386	+	RNA	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:22944386delT	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							TTTGGCAGAATTTTTTTTTCT	0.343													3	4	---	---	---	---					
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:23371029_23371030insG	ENST00000359890.3	-	13	1504_1505	c.1309_1310insC	c.(1309-1311)gacfs	p.D437fs	RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs|RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	437					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAAG	0.505													7	783	---	---	---	---					
FNTB	2342	broad.mit.edu	37	14	65520040	65520041	+	Frame_Shift_Ins	INS	-	-	G	rs149471226		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:65520040_65520041insG	ENST00000246166.2	+	10	1274_1275	c.1040_1041insG	c.(1039-1041)gggfs	p.G347fs	CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta									p.A347A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTGCCCTGCGGGGGGGCTTC	0.599													9	97	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													13	199	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													25	1067	---	---	---	---					
TRPM1	4308	broad.mit.edu	37	15	31362390	31362391	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:31362390_31362391insG	ENST00000542188.1	-	3	486_487	c.173_174insC	c.(172-174)cctfs	p.P58fs	TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.P41fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.P19fs|TRPM1_ENST00000559179.1_Frame_Shift_Ins_p.P19fs	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	19					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACTTGGCAGAGGGGGGATATG	0.505													7	1229	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	268	---	---	---	---					
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													9	134	---	---	---	---					
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79529452	79529453	+	RNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:79529452_79529453insG	ENST00000560533.1	-	0	349																											ATAATGAGGATGGGGGGATGAC	0.490													7	426	---	---	---	---					
IDH2	3418	broad.mit.edu	37	15	90631917	90631918	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:90631917_90631918insC	ENST00000330062.3	-	4	548_549	c.435_436insG	c.(433-438)ggctgtfs	p.C146fs	IDH2_ENST00000539790.1_Frame_Shift_Ins_p.C16fs|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Frame_Shift_Ins_p.C94fs	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	146					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM								9	135	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													14	367	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													13	1374	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													7	72	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1867-1872)ttccccfs	p.FP623fs	POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	623					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574													9	181	---	---	---	---					
PRSS36	146547	broad.mit.edu	37	16	31160516	31160517	+	Frame_Shift_Ins	INS	-	-	C	rs34099735		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:31160516_31160517insC	ENST00000268281.4	-	4	207_208	c.149_150insG	c.(148-150)gtcfs	p.V50fs	PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.V50fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.V50fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	50	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCGCGTTTGAGCCCCCCACGAT	0.703													2	4	---	---	---	---					
SLC5A2	6524	broad.mit.edu	37	16	31498692	31498693	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:31498692_31498693insG	ENST00000330498.3	+	6	645_646	c.626_627insG	c.(625-627)cggfs	p.R209fs	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	209					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TTCGTCATTCTGGGGGGCGCCT	0.678													7	409	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													21	1147	---	---	---	---					
HERPUD1	9709	broad.mit.edu	37	16	56977180	56977181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:56977180_56977181insC	ENST00000439977.2	+	8	1351_1352	c.1154_1155insC	c.(1153-1155)gccfs	p.A385fs	HERPUD1_ENST00000379792.2_Frame_Shift_Ins_p.A360fs|HERPUD1_ENST00000300302.5_Frame_Shift_Ins_p.A384fs|HERPUD1_ENST00000344114.4_Frame_Shift_Ins_p.A226fs|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	385						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTCCAGAAGGCCCCCCAGCCA	0.530			T	ERG	prostate								8	760	---	---	---	---					
PRMT7	54496	broad.mit.edu	37	16	68386205	68386205	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:68386205delA	ENST00000339507.5	+	15	2298	c.1468delA	c.(1468-1470)acfs	p.N490fs	PRMT7_ENST00000348497.4_Frame_Shift_Del_p.N342fs|PRMT7_ENST00000449359.3_Frame_Shift_Del_p.N440fs|PRMT7_ENST00000441236.1_Frame_Shift_Del_p.N440fs			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	490					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCCGTGGCACAACCTCTACTT	0.647													125	214	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70934982	70934983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:70934982_70934983insG	ENST00000393567.2	-	53	9122_9123	c.8972_8973insC	c.(8971-8973)cgafs	p.R2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCAGCCTCAGGGGGGATGGT	0.574													12	1486	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr16:74525008_74525009insC	ENST00000422840.2	-	8	1338_1339	c.1339_1340insG	c.(1339-1341)gatfs	p.D447fs	GLG1_ENST00000447066.2_Frame_Shift_Ins_p.D436fs|GLG1_ENST00000205061.5_Frame_Shift_Ins_p.D447fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	447						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTGTTCAATCTCCCCCCGACAG	0.515													8	329	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					12	1025	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1042-1047)tcggggfs	p.SG348fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	348	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401													8	696	---	---	---	---					
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1642-1647)ctccccfs	p.LP548fs	ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	509							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594													7	323	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G	rs145218609		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:4875737_4875738insG	ENST00000361571.5	-	15	3005_3006	c.2594_2595insC	c.(2593-2595)cgcfs	p.R865fs	CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.R871fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.R889fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.R866fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.R868fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					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						GCAGAGGTGCAGGGGGGGGACT	0.614													8	82	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	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													13	1072	---	---	---	---					
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)gggfs	p.G648fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634													17	344	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					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						TCAGGGGACATGGGGGGGTCTT	0.470													8	293	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													9	208	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													13	555	---	---	---	---					
CD300LG	146894	broad.mit.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-645)cccfs	p.P215fs	CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs	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													8	137	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42475531	42475532	+	Frame_Shift_Ins	INS	-	-	G	rs34826608		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:42475531_42475532insG	ENST00000434000.1	-	9	3961_3962	c.3679_3680insC	c.(3679-3681)ggafs	p.G1227fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.G1305fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1305						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGGCTTTCCAGGGGGGCCAGT	0.559													7	387	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44127972	44127981	+	Frame_Shift_Del	DEL	GTGAATTTCG	GTGAATTTCG	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:44127972_44127981delGTGAATTTCG	ENST00000262419.6	-	7	2408_2417	c.1938_1947delCGAAATTCAC	c.(1936-1947)ccfs	p.PEIH646fs	KANSL1_ENST00000432791.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.PEIH3fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.PEIH646fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	646						MLL1 complex	protein binding										GGGCTTCATAGTGAATTTCGGGAGGCATGG	0.495													75	179	---	---	---	---					
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:45905873_45905874insG	ENST00000290208.7	-	2	697_698	c.245_246insC	c.(244-246)ccafs	p.P82fs	MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525													8	364	---	---	---	---					
NFE2L1	4779	broad.mit.edu	37	17	46135997	46135998	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:46135997_46135998insG	ENST00000362042.3	+	6	1929_1930	c.1313_1314insG	c.(1312-1314)tggfs	p.W438fs	NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.W408fs|NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.W239fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.W282fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.W250fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.W427fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.W408fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	438					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGACCCTTTGGGGGGTCTGT	0.564													7	329	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													10	867	---	---	---	---					
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr17:76046980delA	ENST00000335749.4	+	3	2406	c.1837delA	c.(1837-1839)aafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													7	363	---	---	---	---					
ZNF532	55205	broad.mit.edu	37	18	56585962	56585963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr18:56585962_56585963insC	ENST00000336078.4	+	4	1219_1220	c.443_444insC	c.(442-444)gccfs	p.A148fs	ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.A148fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAGGTGGATGACCCCCCTGACA	0.554													9	941	---	---	---	---					
ZNRF4	148066	broad.mit.edu	37	19	5456529	5456530	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:5456529_5456530insC	ENST00000222033.4	+	1	1104_1105	c.1027_1028insC	c.(1027-1029)cccfs	p.P343fs		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	343						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GTTCTCCCAAGCCCCCCGGCGC	0.609													8	185	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													10	299	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)gacfs	p.D215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	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													26	587	---	---	---	---					
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599													10	619	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													7	156	---	---	---	---					
ZNF625	90589	broad.mit.edu	37	19	12256750	12256751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:12256750_12256751insC	ENST00000355738.1	-	4	631_632	c.282_283insG	c.(280-285)ggaaccfs	p.T95fs	ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATAAGGTTTCCCCCCAGTGT	0.421													7	382	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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	120	---	---	---	---					
SUGP1	57794	broad.mit.edu	37	19	19414817	19414818	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:19414817_19414818insG	ENST00000334782.5	-	5	585_586	c.573_574insC	c.(571-576)cccgtcfs	p.V192fs	SUGP1_ENST00000247001.5_Intron|SUGP1_ENST00000585763.1_Intron			Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	115					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CACCATGACGAGGGGGGAGTCG	0.569													7	332	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													11	473	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													34	445	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|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													8	277	---	---	---	---					
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:42621520_42621521insG	ENST00000560398.1	-	5	257_258	c.250_251insC	c.(250-252)gatfs	p.D84fs	POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000524801.2_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													25	346	---	---	---	---					
MEGF8	1954	broad.mit.edu	37	19	42866542	42866543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:42866542_42866543insC	ENST00000334370.4	+	33	6285_6286	c.5650_5651insC	c.(5650-5652)cccfs	p.P1884fs	MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1951	PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGGCGTCCACCCCCCGCTGT	0.614													8	273	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													12	1045	---	---	---	---					
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													10	430	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													7	259	---	---	---	---					
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)gaafs	p.E297fs		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723													7	49	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													22	402	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)caafs	p.Q681fs	SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609													9	300	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51192558	51192559	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr19:51192558_51192559insG	ENST00000391813.1	-	1	102_103	c.103_104insC	c.(103-105)tttfs	p.F35fs	SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391814.1_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1218					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGGAGAAATGGGGGGGTGGT	0.589													7	84	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													16	310	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	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													13	480	---	---	---	---					
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)ggcctgfs	p.L424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TGCCTGCAGGGCCCCCCCATTC	0.624													7	155	---	---	---	---					
KIF16B	55614	broad.mit.edu	37	20	16407830	16407831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:16407830_16407831insC	ENST00000354981.2	-	15	1687_1688	c.1530_1531insG	c.(1528-1533)ggcagtfs	p.S511fs	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Frame_Shift_Ins_p.S511fs|KIF16B_ENST00000355755.3_Frame_Shift_Ins_p.S511fs	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	511	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGAGTCACTGTCCCCCCGATAT	0.431													8	419	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													11	270	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													13	348	---	---	---	---					
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-267)tccfs	p.S89fs	RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	216	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													39	847	---	---	---	---					
ATP9A	10079	broad.mit.edu	37	20	50305661	50305662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:50305661_50305662insG	ENST00000338821.5	-	9	1004_1005	c.740_741insC	c.(739-741)catfs	p.H247fs	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_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													7	390	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|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													12	153	---	---	---	---					
KRTAP26-1	388818	broad.mit.edu	37	21	31691917	31691918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													9	682	---	---	---	---					
TCP10L	140290	broad.mit.edu	37	21	33949090	33949091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:33949090_33949091insC	ENST00000300258.3	-	5	754_755	c.641_642insG	c.(640-642)ggtfs	p.G214fs	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						ATCTTCAGACACCCCCCCGTCT	0.480													9	180	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381291.4_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													7	165	---	---	---	---					
KCNE1	3753	broad.mit.edu	37	21	35821826	35821827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:35821826_35821827insG	ENST00000337385.3	-	3	481_482	c.106_107insC	c.(106-108)cagfs	p.Q36fs	KCNE1_ENST00000432085.1_Frame_Shift_Ins_p.Q36fs|KCNE1_ENST00000399284.1_Frame_Shift_Ins_p.Q36fs|KCNE1_ENST00000399289.3_Frame_Shift_Ins_p.Q36fs|KCNE1_ENST00000399286.2_Frame_Shift_Ins_p.Q36fs|KCNE1_ENST00000416357.2_Frame_Shift_Ins_p.Q36fs	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	36					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GTCACTGCTGCGGGGGGACCTG	0.614													7	331	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													16	559	---	---	---	---					
PCNT	5116	broad.mit.edu	37	21	47863767	47863768	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr21:47863767_47863768insC	ENST00000359568.5	+	45	9852_9853	c.9745_9746insC	c.(9745-9747)cccfs	p.P3249fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3249					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.T3252fs*84(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AACCAGAGAGTCCCCCCCAACC	0.579													7	92	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													8	237	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022443	18022444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:18022443_18022444insG	ENST00000262608.8	+	15	2548_2549	c.2548_2549insG	c.(2548-2550)gggfs	p.G850fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.G849fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.G708fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	891					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAGGCTCTTCGGGGGGTGCAG	0.634													8	182	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	449	---	---	---	---					
BMS1P20	96610	broad.mit.edu	37	22	22661181	22661182	+	RNA	INS	-	-	G	rs73880611	by1000genomes	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:22661181_22661182insG	ENST00000426066.1	+	0	273_274					NR_027293.1																						TTTCCCCCCCCACCCCGTCATG	0.416													7	209	---	---	---	---					
FBXO7	25793	broad.mit.edu	37	22	32894280	32894281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:32894280_32894281insG	ENST00000266087.7	+	9	1659_1660	c.1332_1333insG	c.(1330-1335)atggggfs	p.MG444fs	FBXO7_ENST00000397426.1_Frame_Shift_Ins_p.MG330fs|FBXO7_ENST00000382058.3_Frame_Shift_Ins_p.MG365fs	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	444					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.I444I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGAATTATCGGGGGTGAATA	0.530													8	713	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs	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													14	351	---	---	---	---					
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(397-402)caccccfs	p.HP133fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000396680.1_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													11	305	---	---	---	---					
POLR3H	171568	broad.mit.edu	37	22	41926704	41926704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chr22:41926704delG	ENST00000355209.4	-	5	891	c.548delC	c.(547-549)cgfs	p.P183fs	POLR3H_ENST00000337566.5_Frame_Shift_Del_p.P154fs|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.P183fs|POLR3H_ENST00000407461.1_Frame_Shift_Del_p.P183fs	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	183					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AAGCGTGTACGGAGCCTCCTT	0.622													21	35	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													25	793	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													42	1000	---	---	---	---					
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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	802	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													10	569	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													16	2059	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	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													10	823	---	---	---	---					
IL2RG	3561	broad.mit.edu	37	X	70327613	70327614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:70327613_70327614insG	ENST00000374202.2	-	8	1173_1174	c.1082_1083insC	c.(1081-1083)ctgfs	p.L361fs	IL2RG_ENST00000456850.2_Frame_Shift_Ins_p.L171fs|IL2RG_ENST00000374188.3_Frame_Shift_Ins_p.L90fs	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	361					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGTGTAACATGGGGGGGCCCA	0.584									Severe Combined Immunodeficiency, X-linked				7	122	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4233)tggfs	p.W1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609													8	336	---	---	---	---					
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)ttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488													8	2926	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													12	755	---	---	---	---					
XPNPEP2	7512	broad.mit.edu	37	X	128890517	128890518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:128890517_128890518insG	ENST00000371106.3	+	14	1545_1546	c.1353_1354insG	c.(1351-1356)tcggggfs	p.SG451fs		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	451					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGCTGGACTCTGGGGGGCAGTA	0.579													7	318	---	---	---	---					
ZDHHC9	51114	broad.mit.edu	37	X	128945383	128945384	+	Splice_Site	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:128945383_128945384insG	ENST00000357166.6	-	9	1270_1271	c.881_splice	c.e9+1	p.C294_splice	ZDHHC9_ENST00000371064.3_Splice_Site_p.C294_splice	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	294						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCTGAGCACCTGGGGGGCAAGG	0.525													9	435	---	---	---	---					
GABRQ	55879	broad.mit.edu	37	X	151821590	151821591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	94726a4b-14cf-4592-b63c-22a8f994631d	g.chrX:151821590_151821591insC	ENST00000370306.2	+	9	1765_1766	c.1745_1746insC	c.(1744-1746)tccfs	p.S582fs		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	582						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGATAGTTGCCCCCCAAGCC	0.520													8	323	---	---	---	---					
ADAM15	8751	broad.mit.edu	37	1	155032422	155032423	+	Frame_Shift_Ins	INS	-	-	C	rs113851811		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr1:155032422_155032423insC	ENST00000356955.2	+	17	2141_2142	c.2040_2041insC	c.(2038-2043)gcccccfs	p.AP680fs	ADAM15_ENST00000368412.3_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000368413.1_Frame_Shift_Ins_p.AP386fs|ADAM15_ENST00000531455.1_Frame_Shift_Ins_p.AP690fs|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000271836.6_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000355956.2_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000359280.4_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000449910.2_Frame_Shift_Ins_p.AP680fs|ADAM15_ENST00000368410.2_Frame_Shift_Ins_p.AP386fs	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	680	EGF-like.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGGGCTGGGCACCCCCTGACTG	0.594													8	689	---	---	---	---					
OR14I1	401994	broad.mit.edu	37	1	248844881	248844882	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	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	225	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													8	249	---	---	---	---					
ANKRD36B	57730	broad.mit.edu	37	2	98171440	98171441	+	RNA	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr2:98171440_98171441insC	ENST00000443455.1	-	0	1282							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		gctttgatgagcccccccactg	0.431													2	4	---	---	---	---					
SEMA3B	7869	broad.mit.edu	37	3	50311901	50311902	+	RNA	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:50311901_50311902insG	ENST00000418948.1	+	0	1479_1480							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCTGCCCACTGGGGGGCGCCC	0.564											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	132	---	---	---	---					
GTF2E1	2960	broad.mit.edu	37	3	120469723	120469724	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:120469723_120469724delCC	ENST00000283875.5	+	2	417_418	c.324_325delCC	c.(322-327)gaacfs	p.DH108fs		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	108					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ATAAACTGGACCACATGAGAAG	0.421													8	225	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142168328	142168328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr3:142168328delT	ENST00000350721.4	-	47	7999	c.7878delA	c.(7876-7878)gafs	p.E2626fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.E2562fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2626	FATC.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATCAGTAGCTTCCTGTATAA	0.348								Other conserved DNA damage response genes					40	87	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389382	1389382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr4:1389382delC	ENST00000324803.4	+	1	4043	c.1083delC	c.(1081-1083)tgfs	p.C361fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	361					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ATGTGGAGTGCCCGCCTGCTC	0.667													10	251	---	---	---	---					
PHF10	55274	broad.mit.edu	37	6	170114904	170114904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr6:170114904delA	ENST00000339209.4	-	7	851	c.728delT	c.(727-729)tgfs	p.L243fs	PHF10_ENST00000366780.4_Frame_Shift_Del_p.L241fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	243	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CTCTGTTGGCAAAACTTTGTA	0.403													12	106	---	---	---	---					
SVOPL	136306	broad.mit.edu	37	7	138312995	138312996	+	Frame_Shift_Ins	INS	-	-	C	rs79662895		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:138312995_138312996insC	ENST00000421622.1	-	7	824_825	c.616_617insG	c.(616-618)ctcfs	p.L206fs	SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs			Q8N434	SVOPL_HUMAN	SVOP-like	326						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554													8	210	---	---	---	---					
TRBV7-6	28592	broad.mit.edu	37	7	142139683	142139684	+	RNA	INS	-	-	A			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr7:142139683_142139684insA	ENST00000390374.3	-	0	94																											cctacacacaGAAAAAAAAATG	0.490													8	165	---	---	---	---					
PTK2B	2185	broad.mit.edu	37	8	27255133	27255147	+	In_Frame_Del	DEL	TAAAGTTGGGCACGT	TAAAGTTGGGCACGT	-	rs1045511	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr8:27255133_27255147delTAAAGTTGGGCACGT	ENST00000397501.1	+	7	840_854	c.32_46delTAAAGTTGGGCACGT	c.(31-48)gta>g	p.VKLGTL11del	PTK2B_ENST00000517339.1_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000420218.2_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000338238.4_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000544172.1_In_Frame_Del_p.VKLGTL11del|PTK2B_ENST00000346049.5_In_Frame_Del_p.VKLGTL11del	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	11					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTGAGTCGAGTAAAGTTGGGCACGTTACGCCGGCC	0.572													7	432	---	---	---	---					
MAN1B1	11253	broad.mit.edu	37	9	139995547	139995548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr9:139995547_139995548insG	ENST00000371589.4	+	7	1080_1081	c.1007_1008insG	c.(1006-1008)cggfs	p.R336fs	MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.R39fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	336					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTCC	0.540													10	260	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46967610	46967611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:46967610_46967611insC	ENST00000374323.3	-	3	1212_1213	c.625_626insG	c.(625-627)atafs	p.I209fs	SYT15_ENST00000374321.4_Frame_Shift_Ins_p.I156fs|SYT15_ENST00000374325.3_Frame_Shift_Ins_p.I156fs|SYT15_ENST00000503753.1_Frame_Shift_Ins_p.I156fs			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	156	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTGCTCATATTCCACCGAGAAC	0.624													15	77	---	---	---	---					
FRMPD2	143162	broad.mit.edu	37	10	49371420	49371420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:49371420delC	ENST00000374201.3	-	28	4134	c.3832delG	c.(3832-3834)atfs	p.D1278fs	FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.D1253fs|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.D1246fs|FRMPD2_ENST00000474573.1_Frame_Shift_Del_p.D230fs	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1278					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGCCTCACATCCTTTTCCAAA	0.423													15	559	---	---	---	---					
H2AFY2	55506	broad.mit.edu	37	10	71851664	71851665	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:71851664_71851665insG	ENST00000373255.4	+	4	695_696	c.431_432insG	c.(430-432)aggfs	p.R144fs		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	144	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.K147fs*53(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCAGGCAAGAAGGGGGGGAAGA	0.594													7	95	---	---	---	---					
PCGF5	84333	broad.mit.edu	37	10	93011143	93011144	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:93011143_93011144delTA	ENST00000336126.5	+	6	652_653	c.420_421delTA	c.(418-423)gctcfs	p.AI140fs	PCGF5_ENST00000543648.1_Frame_Shift_Del_p.AI140fs	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CACAAATTGCTATCTGTCTAGA	0.337													146	282	---	---	---	---					
PAX2	5076	broad.mit.edu	37	10	102509528	102509529	+	Frame_Shift_Ins	INS	-	-	G	rs75462234		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr10:102509528_102509529insG	ENST00000370296.2	+	2	619_620	c.69_70insG	c.(67-72)ctggggfs	p.LG23fs	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000428433.1_Frame_Shift_Ins_p.LG23fs|PAX2_ENST00000556085.1_Frame_Shift_Ins_p.LG22fs|PAX2_ENST00000355243.3_Frame_Shift_Ins_p.LG23fs			Q02962	PAX2_HUMAN	paired box 2	23	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGTT	0.663													9	84	---	---	---	---					
TNKS1BP1	85456	broad.mit.edu	37	11	57077336	57077336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr11:57077336delT	ENST00000532437.1	-	5	3160	c.2849delA	c.(2848-2850)cgfs	p.Q950fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.Q950fs|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	950	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCCAAACTCCTGTTCCTGTGG	0.592													91	181	---	---	---	---					
LOC101929735	101929735	broad.mit.edu	37	14	22944386	22944386	+	RNA	DEL	T	T	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr14:22944386delT	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							TTTGGCAGAATTTTTTTTTCT	0.343													3	4	---	---	---	---					
ZNF106	64397	broad.mit.edu	37	15	42742957	42742957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr15:42742957delA	ENST00000263805.4	-	2	1770	c.1444delT	c.(1444-1446)ccfs	p.S482fs	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCTCCAGGGGAAAAAAAATTT	0.393													7	454	---	---	---	---					
PRSS36	146547	broad.mit.edu	37	16	31160516	31160517	+	Frame_Shift_Ins	INS	-	-	C	rs34099735		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:31160516_31160517insC	ENST00000268281.4	-	4	207_208	c.149_150insG	c.(148-150)gtcfs	p.V50fs	PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.V50fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.V50fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	50	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCGCGTTTGAGCCCCCCACGAT	0.703													2	4	---	---	---	---					
PRMT7	54496	broad.mit.edu	37	16	68386205	68386205	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr16:68386205delA	ENST00000339507.5	+	15	2298	c.1468delA	c.(1468-1470)acfs	p.N490fs	PRMT7_ENST00000449359.3_Frame_Shift_Del_p.N440fs|PRMT7_ENST00000441236.1_Frame_Shift_Del_p.N440fs|PRMT7_ENST00000348497.4_Frame_Shift_Del_p.N342fs			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	490					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GCCGTGGCACAACCTCTACTT	0.647													125	214	---	---	---	---					
ATP2A3	489	broad.mit.edu	37	17	3844781	3844782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:3844781_3844782insG	ENST00000309890.7	-	13	1862_1863	c.1712_1713insC	c.(1711-1713)cagfs	p.Q571fs	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000352011.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397035.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000359983.3_Frame_Shift_Ins_p.Q571fs|ATP2A3_ENST00000397043.3_Frame_Shift_Ins_p.Q571fs	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCTCCTTCCTTGGGGGCGCGTC	0.649													7	475	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12642605	12642606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:12642605_12642606insC	ENST00000425538.1	+	7	877_878	c.677_678insC	c.(676-678)gccfs	p.A226fs	MYOCD_ENST00000395988.1_Frame_Shift_Ins_p.A130fs|MYOCD_ENST00000343344.4_Frame_Shift_Ins_p.A226fs	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	226					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGCA	0.584													11	98	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44127972	44127981	+	Frame_Shift_Del	DEL	GTGAATTTCG	GTGAATTTCG	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr17:44127972_44127981delGTGAATTTCG	ENST00000262419.6	-	7	2408_2417	c.1938_1947delCGAAATTCAC	c.(1936-1947)ccfs	p.PEIH646fs	KANSL1_ENST00000432791.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.PEIH3fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.PEIH646fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.PEIH646fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	646						MLL1 complex	protein binding										GGGCTTCATAGTGAATTTCGGGAGGCATGG	0.495													75	179	---	---	---	---					
C19orf54	284325	broad.mit.edu	37	19	41250539	41250540	+	Frame_Shift_Ins	INS	-	-	G	rs145771686		TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:41250539_41250540insG	ENST00000378313.2	-	3	560_561	c.441_442insC	c.(439-444)ccgtggfs	p.W148fs	C19orf54_ENST00000470681.1_Frame_Shift_Ins_p.W10fs|C19orf54_ENST00000339153.3_Frame_Shift_Ins_p.V17fs|C19orf54_ENST00000598485.2_Frame_Shift_Ins_p.V17fs|C19orf54_ENST00000598729.1_Frame_Shift_Ins_p.V17fs	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	148										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGACGCCACTGGGGGGCGACA	0.624													7	128	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													7	224	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	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_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs	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													7	581	---	---	---	---					
DOPEY2	9980	broad.mit.edu	37	21	37597905	37597906	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr21:37597905_37597906insC	ENST00000399151.3	+	12	1498_1499	c.1413_1414insC	c.(1411-1416)ccccccfs	p.PP471fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	471					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTCAGCCCTCCCCCCACGGT	0.540													9	473	---	---	---	---					
POLR3H	171568	broad.mit.edu	37	22	41926704	41926704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3320-01A-01W-0886-08	TCGA-A3-3320-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e0cff7-b6f4-4e11-b7dd-da74fbcfd49e	dd184bd6-db7f-4149-81b8-912b0a0c0cd6	g.chr22:41926704delG	ENST00000355209.4	-	5	891	c.548delC	c.(547-549)cgfs	p.P183fs	POLR3H_ENST00000337566.5_Frame_Shift_Del_p.P154fs|POLR3H_ENST00000396504.2_Frame_Shift_Del_p.P183fs|POLR3H_ENST00000407461.1_Frame_Shift_Del_p.P183fs	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	183					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AAGCGTGTACGGAGCCTCCTT	0.622													21	35	---	---	---	---