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
FGF9	2254	broad.mit.edu	37	13	22255205	22255205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:22255205C>A	ENST00000382353.5	+	2	832	c.302C>A	c.(301-303)gCa>gAa	p.A101E		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	101					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	p.A101E(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ATCAGTATAGCAGTGGGCCTG	0.517000													40	42					4.01344e-20	4.77428e-20	1	1	0
OR51Q1	390061	broad.mit.edu	37	11	5444131	5444131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:5444131C>A	ENST00000300778.4	+	1	791	c.701C>A	c.(700-702)gCt>gAt	p.A234D	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A234D(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACCTGGGCTGAGCGACTC	0.483000													128	250					6.74356e-53	8.50569e-53	1	1	0
BRICD5	283870	broad.mit.edu	37	16	2259615	2259615	+	Silent	SNP	C	C	T	rs144177469	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:2259615C>T	ENST00000328540.3	-	5	1647	c.531G>A	c.(529-531)gcG>gcA	p.A177A	BRICD5_ENST00000562360.1_Silent_p.A177A	NM_182563.3	NP_872369.2			BRICHOS domain containing 5																		CCAAAGCCCCCGCCTGGGCGG	0.692000													3	6					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33329065	33329065	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:33329065G>A	ENST00000378526.4	+	18	2749	c.2616G>A	c.(2614-2616)aaG>aaA	p.K872K	LIG3_ENST00000262327.5_Silent_p.K872K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	872					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	p.K872K(1)|p.K785K(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCCCCAGCAAGCCCTCAGCCA	0.572000								Other BER factors					8	152					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35827457	35827457	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:35827457C>G	ENST00000237530.6	+	4	619	c.308C>G	c.(307-309)tCt>tGt	p.S103C	RPN2_ENST00000373622.5_Missense_Mutation_p.S71C	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	103					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.S103C(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCTTAGATCTCTATTTCAAAT	0.468000													172	452					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177570722	177570722	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:177570722C>T	ENST00000515098.1	+	7	872	c.521C>T	c.(520-522)gCg>gTg	p.A174V	RMND5B_ENST00000542098.1_Missense_Mutation_p.A161V|RMND5B_ENST00000313386.4_Missense_Mutation_p.A174V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	174	CTLH.							p.A174V(2)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGTCCTGCGTTGGAGTAA	0.527000													4	34					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79054629	79054629	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:79054629A>G	ENST00000446378.2	+	7	11195	c.11164A>G	c.(11164-11166)Aca>Gca	p.T3722A	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3722	Fibronectin type-III 1.					perinuclear region of cytoplasm		p.T3722A(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CACCAGCACAACAATTGCAGT	0.378000													121	140					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996626	4996626	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:4996626A>T	ENST00000380051.2	-	6	632	c.588T>A	c.(586-588)taT>taA	p.Y196*	RPP40_ENST00000464646.1_Nonsense_Mutation_p.Y136*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.Y173*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	196					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.Y196*(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ACTTGGAAAAATATGACATCA	0.453000													39	223					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525430	61525430	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:61525430C>G	ENST00000266070.4	-	12	3014	c.2689G>C	c.(2689-2691)Gat>Cat	p.D897H	DIDO1_ENST00000395340.1_Missense_Mutation_p.D897H|DIDO1_ENST00000395335.2_Missense_Mutation_p.D897H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D897H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	897					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.D897H(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAGCTGAATCCGGAGCTGGG	0.478000													11	89					0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99854065	99854065	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:99854065C>G	ENST00000373031.4	+	6	847	c.630C>G	c.(628-630)gcC>gcG	p.A210A		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	210						integral to membrane		p.A210A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ACTTTCCTGCCAACGAAAAAA	0.423000													52	60					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855382	31855382	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:31855382G>A	ENST00000395728.3	-	14	2153	c.2154C>T	c.(2152-2154)ggC>ggT	p.G718G	EHMT2_ENST00000375528.4_Silent_p.G684G|EHMT2_ENST00000375530.4_Silent_p.G627G|EHMT2_ENST00000375537.4_Silent_p.G661G|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	661					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCTGCAGCTCGCCCTGCTTCA	0.592000													4	60					0	0	1	0	0
TANK	10010	broad.mit.edu	37	2	162036261	162036261	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:162036261T>A	ENST00000392749.2	+	2	327	c.88T>A	c.(88-90)Tta>Ata	p.L30I	TANK_ENST00000403609.1_Missense_Mutation_p.L30I|TANK_ENST00000402568.1_Missense_Mutation_p.L88I|TANK_ENST00000405852.1_Missense_Mutation_p.L30I|TANK_ENST00000457476.1_Missense_Mutation_p.L30I|TANK_ENST00000259075.2_Missense_Mutation_p.L30I|TANK_ENST00000406287.1_Missense_Mutation_p.L88I	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	30						cytosol	metal ion binding|protein binding	p.L30I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AGTAAAAGAATTACAGCAAAA	0.378000													21	133					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146266588	146266588	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:146266588C>A	ENST00000367503.3	-	8	1905	c.1507G>T	c.(1507-1509)Ggt>Tgt	p.G503C	SHPRH_ENST00000275233.7_Missense_Mutation_p.G503C|SHPRH_ENST00000367505.2_Missense_Mutation_p.G503C|SHPRH_ENST00000438092.2_Missense_Mutation_p.G503C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	503	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCAGAAAAACCATGGCCTTTG	0.348000													4	72					2.56e-06	2.78165e-06	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76227233	76227233	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:76227233C>T	ENST00000529032.1	+	10	1561	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	C11orf30_ENST00000525038.1_Missense_Mutation_p.R536W|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521W|C11orf30_ENST00000524767.1_Missense_Mutation_p.R536W|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522W|C11orf30_ENST00000524490.1_Missense_Mutation_p.R437W|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535W|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521W			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	521	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R521W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCCATTGGTCGGATGGCTGC	0.473000													86	210					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60543133	60543133	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:60543133C>T	ENST00000405633.3	+	7	747	c.668C>T	c.(667-669)gCa>gTa	p.A223V	MS4A15_ENST00000337911.4_Missense_Mutation_p.A130V|MS4A15_ENST00000528170.1_Missense_Mutation_p.A182V	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	223						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CCCAGCCCGGCAGCCTCTGCG	0.587000											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	99	243					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626979	108626979	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:108626979G>A	ENST00000264047.2	+	9	1681	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	SLC5A7_ENST00000409059.1_Missense_Mutation_p.D469N|SLC5A7_ENST00000540517.1_Missense_Mutation_p.D364N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	469					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D469N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTACCCTGATGATAATGGTAT	0.398000													8	108					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75608822	75608822	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:75608822T>G	ENST00000294638.5	+	6	1073	c.409T>G	c.(409-411)Tct>Gct	p.S137A	LHX8_ENST00000356261.3_Missense_Mutation_p.S127A	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	137	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S137A(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AACTCGCTGCTCTCGATGTGG	0.443000													14	90					0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050777	196050777	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:196050777G>T	ENST00000446879.1	-	5	662	c.537C>A	c.(535-537)ttC>ttA	p.F179L	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L155M|TM4SF19_ENST00000273695.3_Missense_Mutation_p.L181M			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane		p.L181M(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CTGATGCACAGAAGGGCGGAG	0.567000													12	66					0.00010058	0.000107887	1	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766598	27766598	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:27766598C>T	ENST00000451261.2	+	5	1985	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.A496V(2)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTGTGTTGGCGTGCAGTGGC	0.473000													63	28					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46511639	46511639	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:46511639A>G	ENST00000262741.5	-	9	1827	c.1138T>C	c.(1138-1140)Ttc>Ctc	p.F380L	PIK3R3_ENST00000423209.1_Missense_Mutation_p.F321L|PIK3R3_ENST00000420542.1_Missense_Mutation_p.F380L|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000372006.1_Missense_Mutation_p.F380L|PIK3R3_ENST00000340332.6_Missense_Mutation_p.F285L|PIK3R3_ENST00000354242.4_Missense_Mutation_p.F321L|PIK3R3_ENST00000540385.1_Missense_Mutation_p.F426L	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	380	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.F380L(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CGAATTAAGAATGCACCATCA	0.398000													154	616					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61869884	61869884	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:61869884G>A	ENST00000359353.5	+	0	300				DDX42_ENST00000578681.1_Missense_Mutation_p.D112N|DDX42_ENST00000389924.2_Missense_Mutation_p.D112N|DDX42_ENST00000583590.1_Missense_Mutation_p.D112N|DDX42_ENST00000457800.2_Missense_Mutation_p.D112N			Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.D112N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTGACAGCGATGATGATCC	0.398000													50	207					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131646712	131646712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:131646712G>A	ENST00000368648.3	-	11	1117	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.Q358*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	358					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.Q349*(3)|p.Q358*(3)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCAACCTCTGAAAGCCGTAA	0.468000													18	86					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306641	205306641	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:205306641G>A	ENST00000367156.3	-	9	1755	c.939C>T	c.(937-939)ccC>ccT	p.P313P	KLHDC8A_ENST00000539253.1_Silent_p.P313P|KLHDC8A_ENST00000537168.1_Silent_p.P200P|KLHDC8A_ENST00000367155.3_Silent_p.P313P|KLHDC8A_ENST00000460687.1_Silent_p.P179P	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	313								p.P313P(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCGGGGTGTGGGCATGGCAG	0.592000													9	252					0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3938098	3938098	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:3938098G>A	ENST00000228820.4	-	3	390	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PARP11_ENST00000447133.3_Intron|PARP11_ENST00000397096.2_Silent_p.F75F|PARP11_ENST00000427057.2_Intron	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	75	WWE.						NAD+ ADP-ribosyltransferase activity	p.F75F(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTGTAGCTGAATTTGGAAG	0.358000													8	45					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178402821	178402821	+	Silent	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:178402821A>G	ENST00000264167.4	+	20	2021	c.1875A>G	c.(1873-1875)caA>caG	p.Q625Q	AGPS_ENST00000409888.1_Silent_p.Q156Q	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	625					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.Q625Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TACGGAAGCAATGGCTAAAGG	0.388000													35	219					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21557918	21557918	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:21557918G>C	ENST00000382592.4	-	5	2332	c.1927C>G	c.(1927-1929)Cag>Gag	p.Q643E	LATS2_ENST00000542899.1_Missense_Mutation_p.Q643E	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	643					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q643E(4)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTCCGCATCTGCTCCTGCTCA	0.458000													8	37					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113256703	113256703	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:113256703C>T	ENST00000297405.5	-	65	10566	c.10322G>A	c.(10321-10323)gGc>gAc	p.G3441D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3272D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3371D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3401D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3441	Sushi 28.					integral to membrane|plasma membrane		p.G3441D(1)|p.G3401D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGAAGAAGCCAGGCTGACA	0.448000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	395					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18937479	18937479	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:18937479C>T	ENST00000377304.4	-	2	589	c.171G>A	c.(169-171)gtG>gtA	p.V57V	RP11-139J15.7_ENST00000606425.1_Silent_p.V45V	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	57							methyltransferase activity|RNA binding	p.V57V(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGTATTCACTCTGACAG	0.338000													29	102					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49048414	49048414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:49048414G>A	ENST00000380950.2	-	20	3218	c.3031C>T	c.(3031-3033)Cag>Tag	p.Q1011*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q1011*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q918*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1011					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.Q1011*(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTCTCCTTCTGAAGAAGTAGT	0.393000													94	185					0	0	1	0	0
RASA4CP	401331	broad.mit.edu	37	7	44076350	44076350	+	RNA	SNP	T	T	C	rs28378571	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:44076350T>C	ENST00000446874.1	-	0	202																											GCTGCCAAAGTTCTTTTCCTC	0.617000													4	27					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36967453	36967453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:36967453G>A	ENST00000454319.1	-	2	141	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000472909.2_5'UTR|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3*	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q3*(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TATCTCACCTGAGCCATGGCT	0.398000													23	121					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45606340	45606340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:45606340G>T	ENST00000267430.5	+	2	662	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	FANCM_ENST00000556036.1_Missense_Mutation_p.V193F|FANCM_ENST00000542564.2_Missense_Mutation_p.V193F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	193	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.V193F(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TACACCTCAGGTCATGGTAAA	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	505					3.08376e-08	3.45547e-08	1	1	0
TSPAN3	10099	broad.mit.edu	37	15	77348204	77348204	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:77348204A>T	ENST00000561277.1	-	0	311				TSPAN3_ENST00000267970.4_Splice_Site_p.F86_splice|TSPAN3_ENST00000424443.3_Splice_Site_p.F22_splice|TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000346495.2_Intron			O60637	TSN3_HUMAN	tetraspanin 3							integral to membrane		p.F86Y(2)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GATGATGACAAACTGTAAGAA	0.289000													28	65					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30769763	30769763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:30769763C>T	ENST00000282538.5	-	15	1687	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	513					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.E513K(2)|p.E329K(2)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGTCTATCTCATCCAGGAGG	0.537000													85	260					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72295931	72295931	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:72295931T>G	ENST00000579490.1	+	6	1105	c.970T>G	c.(970-972)Tat>Gat	p.Y324D	DNAI2_ENST00000307504.5_Missense_Mutation_p.Y124D|DNAI2_ENST00000582036.1_Missense_Mutation_p.Y267D|DNAI2_ENST00000446837.2_Missense_Mutation_p.Y267D|DNAI2_ENST00000311014.6_Missense_Mutation_p.Y267D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	267					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.Y267D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGACCCTGTGTATGGCACCAT	0.607000									Kartagener syndrome				22	43					0	0	1	0	0
ZNF655	79027	broad.mit.edu	37	7	99171066	99171066	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:99171066C>T	ENST00000424881.1	+	4	1660	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	ZNF655_ENST00000493277.1_Silent_p.F480F|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Silent_p.F445F|ZNF655_ENST00000252713.4_Silent_p.F445F	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	445					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.F480F(2)|p.F445F(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGGGCAGTTTCAGTCATAGCT	0.408000													42	210					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833121	31833121	+	Silent	SNP	C	C	T	rs142009471		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:31833121C>T	ENST00000544672.1	-	17	1799	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	SLC44A4_ENST00000375562.4_Silent_p.A535A|SLC44A4_ENST00000229729.6_Silent_p.A577A	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	577						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A577A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTAGCATGAACGCATTTTTGG	0.562000													24	143					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587670	37587670	+	Silent	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:37587670T>C	ENST00000378616.3	+	3	1493	c.1290T>C	c.(1288-1290)ccT>ccC	p.P430P	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	430					amino acid transport	integral to membrane	protein binding|transporter activity	p.P430P(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AAACAAGTCCTGAGCCTGGTC	0.473000													10	290					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208732	53208732	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:53208732C>G	ENST00000543227.1	-	6	1850	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	ZNF611_ENST00000595798.1_Missense_Mutation_p.E457Q|ZNF611_ENST00000319783.1_Missense_Mutation_p.E526Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E526Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E457Q|ZNF611_ENST00000453741.2_Missense_Mutation_p.E457Q	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E526Q(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTATGTGTCTCAAGGCTTGAT	0.358000													135	264					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11941942	11941942	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:11941942C>T	ENST00000339865.5	+	9	1678	c.915C>T	c.(913-915)ttC>ttT	p.F305F	USP47_ENST00000399455.2_Silent_p.F393F|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.F373F	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	393					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.F305F(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGAAAAGATTCGATTTTGATT	0.358000													10	148					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521497	64521497	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:64521497T>A	ENST00000355086.3	+	20	3057	c.2533T>A	c.(2533-2535)Tta>Ata	p.L845I	SRGAP1_ENST00000543397.1_Missense_Mutation_p.L782I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L822I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	845					axon guidance	cytosol		p.L845I(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGACGGCTATTTAGCCAGGTA	0.597000													19	168					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878061	28878061	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:28878061G>C	ENST00000337120.5	+	1	3937	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SH2B1_ENST00000322610.8_Missense_Mutation_p.D216H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.D216H|SH2B1_ENST00000359285.5_Missense_Mutation_p.D216H|SH2B1_ENST00000545570.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	216	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.D216H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACTGGTCAGTGATGGAACGTC	0.622000													11	14					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91691111	91691111	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:91691111G>T	ENST00000518868.1	+	17	2490	c.1800G>T	c.(1798-1800)ctG>ctT	p.L600L	C14orf159_ENST00000523816.1_Silent_p.L595L|C14orf159_ENST00000523576.1_3'UTR|C14orf159_ENST00000523771.1_Silent_p.L595L|C14orf159_ENST00000522322.1_Silent_p.L595L|C14orf159_ENST00000521077.2_Silent_p.L560L|C14orf159_ENST00000520328.1_Silent_p.L543L|C14orf159_ENST00000428926.2_Silent_p.L595L|C14orf159_ENST00000412671.2_Silent_p.L600L|C14orf159_ENST00000256324.10_Silent_p.L600L|C14orf159_ENST00000525393.2_Silent_p.L471L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	595						mitochondrion		p.L595L(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGATGGGCTGCCCTTCCACA	0.572000													43	18					3.09479e-21	3.71671e-21	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	153					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64029532	64029532	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:64029532C>T	ENST00000540288.1	+	17	2125	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L	PLCB3_ENST00000279230.6_Silent_p.L674L|PLCB3_ENST00000325234.5_Silent_p.L607L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	674	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L674L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TTGTTGCGCTCAACTTCCAGA	0.607000													3	17					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71631126	71631126	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:71631126G>A	ENST00000409544.1	+	17	3586	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	ZNF638_ENST00000355812.3_Missense_Mutation_p.E986K|ZNF638_ENST00000264447.4_Missense_Mutation_p.E986K	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	986					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.E986K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATAAAAGATGAGGTAAATCA	0.328000													81	482					0	0	1	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906022	96906022	+	RNA	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:96906022T>C	ENST00000446816.1	+	0	564																											CCCTTCAGAATACATGGACAA	0.418000													8	33					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080108	57080108	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:57080108A>G	ENST00000532437.1	-	4	2365	c.2054T>C	c.(2053-2055)cTg>cCg	p.L685P	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L685P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	685	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.L685P(2)		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)				GAGGTCGTCCAGCCAGCGGGA	0.647000													4	14					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53576594	53576594	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:53576594A>C	ENST00000355147.5	-	7	848	c.440T>G	c.(439-441)tTc>tGc	p.F147C	ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000418871.1_Intron			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	0					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACAATCTTAGAAGATAGAACC	0.478000													38	76					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757602	99757602	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:99757602G>A	ENST00000360039.4	-	4	1802	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Silent_p.F470F|GAL3ST4_ENST00000426974.2_Silent_p.F408F	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	470					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.F470F(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGTAGGGGGGAACTGCTTGG	0.532000													11	71					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53589517	53589517	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:53589517G>T	ENST00000429604.1	-	4	428	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5K	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	5					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q5K(2)|p.Q5E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CACTTTACCTGAGTAAGGGCC	0.428000													58	115					1.85257e-25	2.24636e-25	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228547306	228547306	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:228547306C>A	ENST00000284548.11	+	81	18787	c.18713C>A	c.(18712-18714)aCc>aAc	p.T6238N	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.T3357N|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6238					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.T6238N(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGAAGAGACCATCACCACT	0.642000													2	1					0.0784	0.0799935	1	1	0
VCP	7415	broad.mit.edu	37	9	35059557	35059557	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:35059557G>T	ENST00000358901.6	-	14	2832	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	646					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.P646Q(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCAGGAAGTGGGATGTAGAT	0.522000													54	57					1.13205e-32	1.39972e-32	1	1	0
FBN2	2201	broad.mit.edu	37	5	127599169	127599169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:127599169C>A	ENST00000508053.1	-	69	9114	c.8140G>T	c.(8140-8142)Gag>Tag	p.E2714*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2714*			P35556	FBN2_HUMAN	fibrillin 2	2714	EGF-like 47; 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	p.E2714*(4)		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)		TAGCCCCCCTCCGTGTTAGAG	0.587000													119	80					3.63811e-69	4.61194e-69	1	1	0
TRAV8-6	28680	broad.mit.edu	37	14	22446767	22446767	+	RNA	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:22446767C>G	ENST00000390443.3	+	0	69																											CATCCAGGCTCCTTAAGGGAA	0.517000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201469469	201469469	+	Silent	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:201469469A>G	ENST00000374700.2	+	9	961	c.720A>G	c.(718-720)agA>agG	p.R240R		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	240	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.R240R(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCAGTGAGAGAATGATGTGGT	0.463000													93	415					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1394491	1394491	+	Missense_Mutation	SNP	G	G	A	rs114280977	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:1394491G>A	ENST00000324385.5	+	18	1887	c.1729G>A	c.(1729-1731)Gac>Aac	p.D577N	BAIAP3_ENST00000397489.1_Missense_Mutation_p.D559N|BAIAP3_ENST00000562208.1_Missense_Mutation_p.D519N|BAIAP3_ENST00000568887.1_Missense_Mutation_p.D514N|BAIAP3_ENST00000397488.2_Missense_Mutation_p.D559N|BAIAP3_ENST00000426824.3_Missense_Mutation_p.D542N|BAIAP3_ENST00000421665.2_Missense_Mutation_p.D506N	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	577					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGAGTGGTACGACAGGATCCT	0.602000													3	15					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108113084	108113084	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:108113084C>T	ENST00000426128.2	-	10	2049	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	PNPLA8_ENST00000257694.8_Missense_Mutation_p.D704N|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D604N|PNPLA8_ENST00000422087.1_Missense_Mutation_p.D704N|PNPLA8_ENST00000388728.5_Missense_Mutation_p.D642N|PNPLA8_ENST00000436062.1_Missense_Mutation_p.D704N	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	704					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	p.D704N(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AAATAGGTGTCAGGAGGTAAC	0.378000													5	105					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71701932	71701932	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:71701932G>C	ENST00000254799.6	-	2	574	c.457C>G	c.(457-459)Cga>Gga	p.R153G	GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.R35G|GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	153	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.R153G(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			CCTTGAGCTCGAATGAGAAAG	0.398000													4	39					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113505180	113505180	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:113505180A>C	ENST00000273398.3	+	6	774	c.666A>C	c.(664-666)ccA>ccC	p.P222P	ATP6V1A_ENST00000538620.1_Silent_p.P189P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	222					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.P222P(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAGCTGCCAGCCAATCATC	0.463000													80	475					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35827584	35827584	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:35827584C>G	ENST00000237530.6	+	4	746	c.435C>G	c.(433-435)ctC>ctG	p.L145L	RPN2_ENST00000373622.5_Silent_p.L113L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	145					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.L145L(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AAGAAGCACTCAGTGCCCTTA	0.527000													141	418					0	0	1	0	0
HHEX	3087	broad.mit.edu	37	10	94452138	94452138	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:94452138C>G	ENST00000282728.5	+	2	2174	c.375C>G	c.(373-375)ctC>ctG	p.L125L	HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	125	Pro-rich.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	p.L125L(2)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AACCTCTACTCTGGAGCCCCT	0.617000													6	7					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967651	106967651	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:106967651G>T	ENST00000369066.3	+	2	1831	c.1344G>T	c.(1342-1344)caG>caT	p.Q448H		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	448							sugar binding	p.Q448H(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAAAGCCACAGCATACATTTT	0.502000													5	62					0.014758	0.0152439	1	1	0
GPR152	390212	broad.mit.edu	37	11	67219321	67219321	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:67219321G>T	ENST00000312457.2	-	1	879	c.875C>A	c.(874-876)cCc>cAc	p.P292H		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	292						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P292H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCAGAGGAAGGGGCTGAGGCA	0.652000													9	15					2.17888e-05	2.35732e-05	1	1	0
VCAN	1462	broad.mit.edu	37	5	82816704	82816704	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:82816704G>A	ENST00000265077.3	+	7	3144	c.2579G>A	c.(2578-2580)aGt>aAt	p.S860N	VCAN_ENST00000512590.2_Missense_Mutation_p.S812N|VCAN_ENST00000342785.4_Missense_Mutation_p.S860N|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	860	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.S860I(1)|p.S860N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTCCAGATAGTACTCAAAAG	0.413000													9	186					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27426971	27426971	+	Missense_Mutation	SNP	C	C	T	rs140504210	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:27426971C>T	ENST00000263980.3	-	12	2850	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.D420N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	759					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.D759N(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ATGCCCCCATCGTCGTCCTCG	0.602000													7	63					0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37387544	37387544	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:37387544A>T	ENST00000405091.2	-	6	974	c.723T>A	c.(721-723)caT>caA	p.H241Q	TEX33_ENST00000402860.3_Missense_Mutation_p.H156Q|TEX33_ENST00000381821.1_Missense_Mutation_p.H241Q			O43247	EAN57_HUMAN	testis expressed 33	241								p.H156Q(2)									TCTTCCTGCCATGCCAGTGTT	0.542000													158	234					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072821	17072821	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:17072821G>T	ENST00000359963.3	-	1	879	c.620C>A	c.(619-621)gCg>gAg	p.A207E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207G(1)|p.A207V(1)|p.A207E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGGCAGCGCGCACACCCC	0.617000													9	44					0.00621372	0.0065257	1	1	0
GGN	199720	broad.mit.edu	37	19	38876616	38876616	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:38876616G>T	ENST00000334928.6	-	3	1418	c.1286C>A	c.(1285-1287)cCg>cAg	p.P429Q	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	429	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.P429Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGGCCCCGGGCGCATGGG	0.721000													3	5					5.9392e-07	6.56713e-07	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34962140	34962140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:34962140C>T	ENST00000329357.5	+	1	1228	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	398								p.R398C(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCCCCATCTCCGCCTGGTGCT	0.582000													74	34					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812634	49812634	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:49812634A>C	ENST00000454748.3	-	6	1112	c.911T>G	c.(910-912)aTc>aGc	p.I304S	SLC6A16_ENST00000335875.4_Missense_Mutation_p.I304S			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	304						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.I304S(2)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ACCGACAATGATGAAACAGGG	0.493000													31	179					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36112407	36112407	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:36112407A>T	ENST00000377966.3	+	16	2560	c.1994A>T	c.(1993-1995)cAg>cTg	p.Q665L		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	665	Kazal-like 1.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	p.Q665L(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAGACCATCAGTTTGAGTTT	0.463000													87	78					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944871	117944871	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:117944871A>C	ENST00000356554.3	+	2	1101	c.366A>C	c.(364-366)gcA>gcC	p.A122A	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	122					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A122A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGGAAGAAGCAAAAGAAAAAT	0.373000													24	100					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881693	26881693	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:26881693T>C	ENST00000231021.4	-	12	2094	c.1922A>G	c.(1921-1923)aAa>aGa	p.K641R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K641R(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGTTCCTTTTTTCTTTGCCT	0.388000													47	119					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266387	85266387	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:85266387T>A	ENST00000266682.5	-	8	1837	c.1296A>T	c.(1294-1296)ctA>ctT	p.L432L	SLC6A15_ENST00000309283.7_Silent_p.L140L|SLC6A15_ENST00000552192.1_Silent_p.L325L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	432					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.L432L(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TAACTTTATTTAGCTCTTCTT	0.328000													11	65					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51440599	51440599	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:51440599C>A	ENST00000335891.5	-	16	3105	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1481					interspecies interaction between organisms	cytoplasm|nucleus	protein binding	p.E1485D(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCAGTTCCACCTCCTCATCTG	0.527000													27	36					1.414e-09	1.59871e-09	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54305729	54305729	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:54305729G>A	ENST00000545554.1	+	1	629	c.629G>A	c.(628-630)aGa>aAa	p.R210K	UNC13C_ENST00000260323.11_Missense_Mutation_p.R210K|UNC13C_ENST00000537900.1_Missense_Mutation_p.R210K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	210					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R210K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGGAATAAGAAGTAAGTCT	0.438000													46	296					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:204948557C>A	ENST00000367172.4	+	19	2374	c.2046C>A	c.(2044-2046)ccC>ccA	p.P682P	NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000367169.4_Silent_p.P682P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572000													38	101					5.04308e-16	5.91501e-16	1	1	0
MARCO	8685	broad.mit.edu	37	2	119735488	119735488	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:119735488A>T	ENST00000541757.1	+	9	889	c.509A>T	c.(508-510)gAg>gTg	p.E170V	MARCO_ENST00000327097.4_Missense_Mutation_p.E248V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	248	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.E248V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACTAAGGGAGAGAAAGGAGAC	0.602000													5	27					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44351558	44351558	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:44351558G>C	ENST00000324461.7	+	7	1102	c.805G>C	c.(805-807)Ggg>Cgg	p.G269R	ZNF283_ENST00000588797.1_Missense_Mutation_p.G130R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G269R(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TAAGGAATGTGGGAAGACCTT	0.403000													22	147					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75756265	75756265	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:75756265G>A	ENST00000260113.2	+	3	502	c.323G>A	c.(322-324)tGc>tAc	p.C108Y	PI15_ENST00000523773.1_Missense_Mutation_p.C108Y|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	108						extracellular region	peptidase inhibitor activity	p.C108Y(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GCGGCTACTTGCATTTGGGAC	0.428000													58	213					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87045236	87045236	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:87045236G>C	ENST00000370563.3	+	13	2364	c.2322G>C	c.(2320-2322)tgG>tgC	p.W774C	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	774						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.W774C(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTCTTACATGGACAGCACCAG	0.408000													266	352					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37727024	37727024	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:37727024C>G	ENST00000265107.4	+	17	1910	c.1754C>G	c.(1753-1755)tCt>tGt	p.S585C		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	585								p.S585C(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCACTCTCTCTTCCTATATT	0.448000													128	280					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108776234	108776234	+	Silent	SNP	G	G	A	rs144305402		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:108776234G>A	ENST00000232603.5	-	13	1213	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	MORC1_ENST00000483760.1_Silent_p.I377I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	377					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.I377I(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATGCATTTTGATCAAACGGT	0.388000													154	319					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553584	140553584	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:140553584C>T	ENST00000231137.3	+	1	1342	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P390S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGATGTCCCCTTCATCCT	0.473000													18	20					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940248	64940248	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:64940248C>T	ENST00000377185.2	+	6	692	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	204					cell cycle	nucleus	protein kinase binding	p.R204C(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GGTCCCTGTTCGCCTTCCCCG	0.652000													19	21					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122748723	122748723	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:122748723T>A	ENST00000267199.4	-	2	238	c.126A>T	c.(124-126)ctA>ctT	p.L42L	VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Silent_p.L42L|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	42					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.L42L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGGTCCAGTTAGGTATTCAT	0.343000													30	118					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:7578433G>C	ENST00000420246.2	-	5	629	c.497C>G	c.(496-498)tCa>tGa	p.S166*	TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTGCTGTGACTGCTTGTA	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			74	77					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47566113	47566113	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:47566113A>T	ENST00000426342.1	-	6	991	c.245T>A	c.(244-246)aTt>aAt	p.I82N	MDGA2_ENST00000439988.2_Missense_Mutation_p.I311N|MDGA2_ENST00000357362.3_Missense_Mutation_p.I82N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I380N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	311	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTATTGGCAATGCAGCTGTA	0.433000													164	3168					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561527	15561527	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr21:15561527C>T	ENST00000344577.2	-	2	348	c.323G>A	c.(322-324)gGc>gAc	p.G108D	LIPI_ENST00000536861.1_Missense_Mutation_p.G87D	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	87					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.G108D(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGGGATGGAGCCTACTGGTCT	0.393000													11	152					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518680	93518680	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:93518680C>T	ENST00000377067.3	+	8	2079	c.1707C>T	c.(1705-1707)ccC>ccT	p.P569P		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	569						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P569P(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTTACTTCCCGGGATTTGGT	0.433000													153	388					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46641940	46641940	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr21:46641940C>T	ENST00000539173.1	+	12	2489	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	ADARB1_ENST00000348831.4_Missense_Mutation_p.S645F|ADARB1_ENST00000389863.4_Missense_Mutation_p.S685F|ADARB1_ENST00000360697.3_Missense_Mutation_p.S685F|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	685	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.S685F(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGGTTCCCTCCCACTTACTA	0.488000													6	4					0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227472	56227472	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:56227472G>A	ENST00000341744.3	-	4	820	c.501C>T	c.(499-501)ctC>ctT	p.L167L	PMEPA1_ENST00000347215.4_Silent_p.L132L|PMEPA1_ENST00000395814.1_Silent_p.L117L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000265626.4_Silent_p.L117L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	167					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.L167L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCGAAGCTGGAGGGTGCAGG	0.642000													5	48					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220835506	220835506	+	Nonstop_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:220835506T>G	ENST00000402574.1	+	17	2938	c.1936T>G	c.(1936-1938)Taa>Gaa	p.*646E	MARK1_ENST00000366917.4_Nonstop_Mutation_p.*796E|MARK1_ENST00000366918.4_Nonstop_Mutation_p.*759E	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	0					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.*796E(3)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCTTAAGCTGTAAAGAAGTCC	0.393000													11	70					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631628	101631628	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:101631628G>A	ENST00000310954.6	-	1	625	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	113					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.L113L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGACGGCCAAGAGGCAGTAGT	0.632000													14	12					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70687463	70687463	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:70687463G>C	ENST00000370950.3	+	2	226	c.144G>C	c.(142-144)caG>caC	p.Q48H	SRSF11_ENST00000436161.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000370951.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000454435.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000405432.1_Missense_Mutation_p.Q48H			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	48	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.Q48H(2)		large_intestine(3)|ovary(2)|skin(1)	6						GCTCTGAGCAGATGCGGACTC	0.647000													57	41					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539807	142539807	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:142539807C>T	ENST00000295992.3	-	8	1336	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R264K	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	344	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.E344K(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAATTTCCCTCTTTGTAGATG	0.507000													92	181					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004819	25004819	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:25004819G>T	ENST00000533227.1	+	9	774	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	LUZP2_ENST00000336930.6_Missense_Mutation_p.D249Y	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	249						extracellular region		p.D249Y(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TAAGCTTCCAGATGCAGCGGC	0.428000													84	340					3.57987e-33	4.44825e-33	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328774	88328774	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:88328774G>T	ENST00000325089.6	+	2	1350	c.1131G>T	c.(1129-1131)gcG>gcT	p.A377A	SLITRK5_ENST00000400028.3_Silent_p.A136A	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	377	LRRNT.					integral to membrane		p.A377A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTCCCACCGCGTGCTCTTGCA	0.577000													11	23					1.52009e-12	1.7502e-12	1	1	0
RIN3	79890	broad.mit.edu	37	14	93118640	93118640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:93118640C>T	ENST00000216487.7	+	6	1405	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	416	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.Q416*(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTGCCTCCCCAAGGGACCTC	0.657000													3	11					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406296	38406296	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:38406296G>A	ENST00000322350.5	+	7	1127	c.781G>A	c.(781-783)Gat>Aat	p.D261N	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D261N|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D27N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	261						cell junction|proteinaceous extracellular matrix|synapse		p.D261N(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGTGAGGATGATGAAGGATT	0.473000													76	118					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56999683	56999683	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:56999683C>T	ENST00000179765.5	-	14	2533	c.2334G>A	c.(2332-2334)cgG>cgA	p.R778R	BAZ2A_ENST00000379441.3_Silent_p.R780R|BAZ2A_ENST00000549884.1_Silent_p.R808R|BAZ2A_ENST00000551812.1_Silent_p.R810R			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	810	Lys-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.R810R(4)|p.R846R(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCTGCCTCTGCCGTTCCTCCA	0.517000													16	13					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39734751	39734751	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:39734751A>G	ENST00000413851.2	-	3	343	c.305T>C	c.(304-306)cTg>cCg	p.L102P		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L102P(1)									CAGAACCTTCAGCGTCAGGGC	0.652000													18	40					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18456297	18456297	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:18456297G>C	ENST00000541669.1	+	5	540	c.429G>C	c.(427-429)ttG>ttC	p.L143F	LDHC_ENST00000535809.1_Missense_Mutation_p.L143F|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.L129F|LDHC_ENST00000544105.1_Missense_Mutation_p.L143F|LDHC_ENST00000546146.1_Missense_Mutation_p.L85F|LDHC_ENST00000280704.4_Missense_Mutation_p.L143F			P07864	LDHC_HUMAN	lactate dehydrogenase C	143					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L143F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TGGATATTTTGACATATATAG	0.308000													38	237					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247123	77247123	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:77247123G>C	ENST00000388914.3	-	22	3196	c.3044C>G	c.(3043-3045)tCt>tGt	p.S1015C		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1015	Ser-rich.							p.S1015C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCTTAGGAGAAGAATTGAA	0.358000													107	450					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47892633	47892633	+	Silent	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:47892633T>G	ENST00000507489.1	-	12	1716	c.1540A>C	c.(1540-1542)Aga>Cga	p.R514R	NFXL1_ENST00000329043.3_Silent_p.R514R|NFXL1_ENST00000381538.3_Silent_p.R514R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	514						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R514R(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTTTACCTCTGTGACAGACA	0.348000													49	122					0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24087099	24087099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:24087099G>A	ENST00000341976.3	-	2	689	c.229C>T	c.(229-231)Caa>Taa	p.Q77*		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	77						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q77*(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGGATACTTTGATGCTGAACA	0.488000													52	258					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545619	54545619	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:54545619G>A	ENST00000338372.2	-	5	574	c.399C>T	c.(397-399)acC>acT	p.T133T	VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Silent_p.T45T|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	133						integral to membrane		p.T133T(2)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGATGGTTCTGGTGTCTGGAG	0.537000													33	87					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227946805	227946805	+	Missense_Mutation	SNP	C	C	T	rs143092410	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:227946805C>T	ENST00000366759.4	+	3	1156	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	SNAP47_ENST00000315781.5_Missense_Mutation_p.P248S|SNAP47_ENST00000366760.1_Missense_Mutation_p.P6S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	248						endomembrane system|membrane|perinuclear region of cytoplasm		p.P248S(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CAGTTGTGAACCCTTTGGGAA	0.493000													4	78					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17612097	17612097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:17612097C>A	ENST00000252595.7	+	11	1749	c.1652C>A	c.(1651-1653)gCa>gAa	p.A551E	SLC27A1_ENST00000442725.1_Missense_Mutation_p.A551E|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A372E|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	551					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	p.A551E(4)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAGGGTAAGGCAGGGATGGCG	0.642000													10	7					0.000978159	0.00103594	1	1	0
DCST1	149095	broad.mit.edu	37	1	155015885	155015885	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:155015885G>A	ENST00000295542.1	+	10	1168	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	DCST1_ENST00000392480.1_Missense_Mutation_p.E358K|DCST1_ENST00000368419.2_Missense_Mutation_p.E358K|DCST1_ENST00000423025.2_Missense_Mutation_p.E333K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	358						integral to membrane	zinc ion binding	p.E358K(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	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)			CGTGAGCACCGAGGTGCGGGA	0.667000													17	60					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372586	180372586	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:180372586C>A	ENST00000273654.4	-	13	1765	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H	CCDC39_ENST00000442201.2_Missense_Mutation_p.Q298H			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	298					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.Q298H(2)|p.Q382H(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCATGGTCCTGATATGCCG	0.343000													38	90					1.07234e-20	1.28171e-20	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103364245	103364245	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:103364245G>A	ENST00000358392.2	-	56	4578	c.4261C>T	c.(4261-4263)Ctt>Ttt	p.L1421F	COL11A1_ENST00000370096.3_Missense_Mutation_p.L1409F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1293F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1370F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1409	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.L1409F(2)|p.L1421F(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGCCCCGAAGACCTTCTGGA	0.453000													17	59					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88661457	88661457	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:88661457C>G	ENST00000388712.3	-	5	563	c.395G>C	c.(394-396)gGc>gCc	p.G132A	GOLM1_ENST00000388711.3_Missense_Mutation_p.G132A|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	132						Golgi apparatus|integral to plasma membrane		p.G132A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGCAGCCTGCCGTAATTCCT	0.532000													32	23					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632679	33632679	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:33632679C>A	ENST00000374316.5	+	13	2241	c.1181C>A	c.(1180-1182)aCc>aAc	p.T394N	ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	394	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.T394N(4)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACCTCTGCACCAACACGTGG	0.662000													11	39					0.0242445	0.0249401	1	1	0
GALNT11	63917	broad.mit.edu	37	7	151818708	151818708	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:151818708C>T	ENST00000434507.1	+	14	2210	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V	GALNT11_ENST00000320311.2_Silent_p.V591V|GALNT11_ENST00000452146.2_Silent_p.V510V|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000430044.2_Silent_p.V591V			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	591	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V591V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGGGCTCTGTCGCCATGGCGA	0.532000													14	55					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747039	26747039	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:26747039G>T	ENST00000529632.2	+	12	2625	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V	SEZ6L_ENST00000403121.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G7V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G810V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G810V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G810V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	810	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.G810V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACCGACCCCGGAGAGGTGGAT	0.527000													21	97					3.28513e-13	3.81744e-13	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20112537	20112537	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:20112537G>A	ENST00000381569.1	-	2	513	c.156C>T	c.(154-156)caC>caT	p.H52H	LZTS1_ENST00000265801.6_Silent_p.H52H|LZTS1_ENST00000522290.1_Silent_p.H52H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	52					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H52H(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGGACTTGCCGTGACCGGAGT	0.577000													33	42					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5219402	5219402	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:5219402T>C	ENST00000372412.4	-	23	4078	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	PTPRS_ENST00000587303.1_Missense_Mutation_p.E1281G|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1281G|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1259G|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1277G|PTPRS_ENST00000353284.2_Missense_Mutation_p.E850G|PTPRS_ENST00000592099.1_Missense_Mutation_p.E850G|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1259G			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1281					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GATAAGCCCCTCCTCGCCATC	0.587000													4	21					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969183	5969183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:5969183C>A	ENST00000329564.6	+	1	614	c.607C>A	c.(607-609)Caa>Aaa	p.Q203K		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q203K(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTTTACCAATTTGCTGG	0.478000													45	392					2.81731e-22	3.39973e-22	1	1	0
MSH2	4436	broad.mit.edu	37	2	47709956	47709956	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:47709956G>C	ENST00000233146.2	+	16	2896	c.2673G>C	c.(2671-2673)gtG>gtC	p.V891V	MSH2_ENST00000461394.1_Intron|MSH2_ENST00000543555.1_Silent_p.V825V|MSH2_ENST00000406134.1_Intron	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	891					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.V891V(2)|p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTCCAAGGTGAAACAAATGC	0.313000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				12	37					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													6	96					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219874697	219874697	+	Missense_Mutation	SNP	G	G	T	rs145107151	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:219874697G>T	ENST00000341552.5	-	27	4502	c.4419C>A	c.(4417-4419)ttC>ttA	p.F1473L	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.F1473L|CCDC108_ENST00000453220.1_Missense_Mutation_p.F1473L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1473						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCCAGGAGAAGGCAATTT	0.552000													3	4					0.00909568	0.00943395	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503320	140503320	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:140503320G>A	ENST00000194152.1	+	1	1740	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		580	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.E580E(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGGCCGAGCCGGGCTACC	0.697000													5	12					0	0	1	0	0
ID3	3399	broad.mit.edu	37	1	23885762	23885762	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:23885762C>T	ENST00000374561.5	-	1	523	c.156G>A	c.(154-156)cgG>cgA	p.R52R	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	52	Helix-loop-helix motif.				negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	p.R52R(2)		central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GTACCAGTTCCCGCAGGCGGG	0.642000													10	25					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733114	152733114	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:152733114C>G	ENST00000368773.1	+	2	1108	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	KPRP_ENST00000606109.1_Missense_Mutation_p.I350M	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	350	Pro-rich.					cytoplasm		p.I350M(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCCATCAGACGCCGCT	0.652000													11	50					0	0	1	0	0
CES1P1	51716	broad.mit.edu	37	16	55806422	55806422	+	RNA	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:55806422T>A	ENST00000571348.1	+	0	724					NR_003276.2																						GAGGAGAAAGTGTCTCTGTTC	0.557000													14	34					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75471230	75471230	+	RNA	SNP	C	C	T	rs11716994	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:75471230C>T	ENST00000459803.1	-	0	1911					NR_024241.1																						CTGCAGGAGTCGCAGCAGCTC	0.522000													3	24					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55175634	55175634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:55175634G>A	ENST00000421030.2	+	24	4031	c.3746G>A	c.(3745-3747)aGa>aAa	p.R1249K	MROH7_ENST00000454855.2_Missense_Mutation_p.R767K|MROH7_ENST00000409996.1_Missense_Mutation_p.R817K|MROH7_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553.2			maestro heat-like repeat family member 7									p.R1246K(2)|p.R1249K(2)									GATAACTTGAGACATGACCCA	0.572000													19	93					0	0	1	0	0
TSSK3	81629	broad.mit.edu	37	1	32829545	32829545	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:32829545G>C	ENST00000373534.3	+	2	1000	c.495G>C	c.(493-495)ctG>ctC	p.L165L	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	165	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L165L(2)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACCGGGAGCTGAGCCAGACCT	0.572000													33	78					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115171264	115171264	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:115171264C>G	ENST00000398805.3	+	4	585	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000262542.7_5'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	120						peroxisome	oxidoreductase activity|sterol binding	p.L120V(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GAGATTGGATCTGATGATGAA	0.408000													89	289					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942315	144942315	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:144942315C>T	ENST00000525985.1	-	2	5178	c.5107G>A	c.(5107-5109)Gtg>Atg	p.V1703M				P58107	EPIPL_HUMAN	epiplakin 1	1703						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGTAGGCCACGTCCACGGGC	0.677000													3	10					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356290	37356290	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:37356290C>A	ENST00000217420.1	+	2	849	c.586C>A	c.(586-588)Ccg>Acg	p.P196T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	196					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.P196T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGCTGCGCCCCGCGCTTCCC	0.632000													8	14					0.00829132	0.00867134	1	1	0
SAP30BP	29115	broad.mit.edu	37	17	73689542	73689542	+	Missense_Mutation	SNP	G	G	C	rs150596591	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:73689542G>C	ENST00000584667.1	+	4	544	c.287G>C	c.(286-288)cGa>cCa	p.R96P	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R80P	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	96					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.R96P(2)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGAAAAGCGAGACCCCCAG	0.552000													11	53					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201719419	201719419	+	Splice_Site	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:201719419C>A	ENST00000434813.2	-	11	1601		c.e11-1		CLK1_ENST00000409769.2_Splice_Site|CLK1_ENST00000321356.4_Splice_Site	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1						cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.?(4)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATCGTGTGTCTAGAAATAAA	0.368000													39	203					1.48646e-12	1.71936e-12	1	1	0
OSER1	51526	broad.mit.edu	37	20	42831602	42831602	+	Splice_Site	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:42831602C>A	ENST00000372970.2	-	5	370	c.191_splice	c.e5+1	p.G64_splice	OSER1_ENST00000255174.2_Splice_Site_p.G64_splice					oxidative stress responsive serine-rich 1									p.G64W(2)									AGCTCTTACCCGTGCCAACTG	0.383000													48	133					3.16986e-14	3.70063e-14	1	1	0
LRCH4	4034	broad.mit.edu	37	7	100179736	100179736	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:100179736G>T	ENST00000310300.6	-	3	472	c.420C>A	c.(418-420)gtC>gtA	p.V140V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	140					nervous system development	PML body	protein binding	p.V140V(2)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGATGAGGACCCTCAGGG	0.637000													7	12					1.26484e-09	1.43654e-09	1	1	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000545426.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000513339.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1									p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000													16	227					0	0	1	0	0
SDCBP2	27111	broad.mit.edu	37	20	1298989	1298989	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:1298989G>A	ENST00000360779.3	-	4	371	c.198C>T	c.(196-198)agC>agT	p.S66S	SDCBP2_ENST00000339987.3_Silent_p.S66S|SDCBP2_ENST00000381812.1_Silent_p.S66S	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	66					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity	p.S66S(2)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TCTGAAGCAGGCTCTCCTGGA	0.478000													4	78					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127693657	127693657	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:127693657T>C	ENST00000373555.4	-	4	497	c.164A>G	c.(163-165)gAt>gGt	p.D55G		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	55						Golgi cisterna membrane		p.D55G(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GGATGAAAGATCTTCTCTGGA	0.433000													51	45					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679947	63679947	+	Missense_Mutation	SNP	G	G	C	rs144368985	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:63679947G>C	ENST00000301459.4	-	11	1474	c.1087C>G	c.(1087-1089)Ctg>Gtg	p.L363V		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	363	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						ACCTGGGTCAGAGTCTTGTTC	0.567000													3	27					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969302	118969302	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:118969302C>A	ENST00000334549.1	+	3	647	c.647C>A	c.(646-648)aCa>aAa	p.T216K		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	216						integral to membrane|plasma membrane		p.T216K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAACTTGGCACATGTCCTTCA	0.527000													14	42					7.05477e-17	8.31336e-17	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108380461	108380461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:108380461C>T	ENST00000265843.4	-	6	5883	c.5773G>A	c.(5773-5775)Gat>Aat	p.D1925N	EXPH5_ENST00000428840.1_Missense_Mutation_p.D1849N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1737N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1918N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1925					intracellular protein transport		Rab GTPase binding	p.D1925N(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCTCAAATCATCTTTTAGG	0.408000													20	55					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20608525	20608525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:20608525G>C	ENST00000382869.3	+	11	2351	c.2100G>C	c.(2098-2100)aaG>aaC	p.K700N	ZMYM2_ENST00000382874.2_Missense_Mutation_p.K700N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.K700N|ZMYM2_ENST00000382883.3_Missense_Mutation_p.K182N|ZMYM2_ENST00000382870.2_Missense_Mutation_p.K80N	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.K700N(4)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTGGCGTTAAGAGACCTTTCT	0.343000													82	280					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371624	55371624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:55371624C>A	ENST00000302231.4	-	1	250	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A76S(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATCTAGGGGCTGTGGAAGTT	0.398000													97	48					8.62921e-31	1.06173e-30	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140431299	140431299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:140431299G>C	ENST00000306549.3	+	1	321	c.244G>C	c.(244-246)Gga>Cga	p.G82R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		82	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G82R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCAAGACGGGAGATTTGTT	0.572000													24	81					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46913983	46913983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:46913983C>T	ENST00000218343.4	+	9	1694	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	PHF16_ENST00000397189.1_Missense_Mutation_p.H466Y	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		466					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.H466Y(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGAAAGCATTCACACTCGAAT	0.453000													27	24					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083381	171083381	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:171083381A>C	ENST00000367755.4	+	7	1173	c.1062A>C	c.(1060-1062)aaA>aaC	p.K354N	FMO3_ENST00000542847.1_Missense_Mutation_p.K334N|FMO3_ENST00000538429.1_Missense_Mutation_p.K291N|FMO3_ENST00000392085.2_Missense_Mutation_p.K354N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	354					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.K354N(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTTATTTAAAGGAGTATTTC	0.443000													65	189					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122828657	122828657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:122828657C>A	ENST00000264811.5	-	6	2057	c.1639G>T	c.(1639-1641)Gtg>Ttg	p.V547L	TRPC3_ENST00000513531.1_Missense_Mutation_p.V492L|TRPC3_ENST00000379645.3_Missense_Mutation_p.V620L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	535					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.V547L(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGCTGAGCACAACAGCTATG	0.443000													95	107					3.18938e-35	3.98276e-35	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77847609	77847609	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:77847609G>C	ENST00000407578.2	-	5	1209	c.943C>G	c.(943-945)Cag>Gag	p.Q315E	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q277E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q277E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.Q277E(4)|p.Q315E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAAATACCTGAATAGTTTGG	0.398000													34	152					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678562	186678562	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:186678562G>C	ENST00000343098.5	+	18	20385	c.20385G>C	c.(20383-20385)acG>acC	p.T6795T	FSIP2_ENST00000424728.1_Silent_p.T6706T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.T1404T(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CACTAAGCACGAGCAGCCTGA	0.358000													57	57					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28211923	28211923	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:28211923A>T	ENST00000354638.3	-	15	1704	c.1549T>A	c.(1549-1551)Tgc>Agc	p.C517S	OCA2_ENST00000382996.2_Missense_Mutation_p.C517S|OCA2_ENST00000353809.5_Missense_Mutation_p.C493S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	517					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.C517S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAACAAGGCAAATCCCAATG	0.493000									Oculocutaneous Albinism				29	50					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367007	367007	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:367007G>A	ENST00000240499.7	+	4	930	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	261					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.G261S(2)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGAAGAATGTGGCAAAGCCTT	0.368000													70	79					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42702827	42702827	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:42702827C>G	ENST00000397163.3	+	21	2445	c.2226C>G	c.(2224-2226)atC>atG	p.I742M	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.I649M|CAPN3_ENST00000569136.1_Missense_Mutation_p.I77M|CAPN3_ENST00000357568.3_Missense_Mutation_p.I736M|CAPN3_ENST00000561817.1_Missense_Mutation_p.I77M|CAPN3_ENST00000397200.4_Missense_Mutation_p.I230M|CAPN3_ENST00000397204.4_Missense_Mutation_p.I77M|CAPN3_ENST00000349748.3_Missense_Mutation_p.I650M|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000318023.7_Missense_Mutation_p.I736M|CAPN3_ENST00000337571.4_Missense_Mutation_p.I77M	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	742	Domain IV.|EF-hand 3.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.I649M(2)|p.I736M(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCGGCACCATCAACAGCTACG	0.512000													61	125					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967174	52967174	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:52967174C>T	ENST00000549343.1	-	1	426	c.388G>A	c.(388-390)Gac>Aac	p.D130N	KRT74_ENST00000305620.2_Missense_Mutation_p.D130N			Q7RTS7	K2C74_HUMAN	keratin 74	130	Head.					keratin filament	structural molecule activity	p.D130N(2)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATCTCAGGGTCCAGCTCCACG	0.602000													15	111					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451720	55451720	+	Missense_Mutation	SNP	C	C	T	rs61746625	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:55451720C>T	ENST00000588756.1	-	6	953	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	NLRP7_ENST00000590030.1_Missense_Mutation_p.R156Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.R156Q|NLRP7_ENST00000448121.2_Missense_Mutation_p.R156Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.R184Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.R156Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.R156Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	156							ATP binding	p.R156Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAATGAACCGTTGGTTTCT	0.502000													10	320					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049473	175049473	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:175049473G>T	ENST00000239462.4	+	4	1072	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	320	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G320V(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGATTCTTGGTTTGCTGCCT	0.537000													13	54					0.000308642	0.000328259	1	1	0
SOX7	83595	broad.mit.edu	37	8	10583367	10583367	+	Missense_Mutation	SNP	C	C	A	rs147348948	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:10583367C>A	ENST00000304501.1	-	2	1126	c.1048G>T	c.(1048-1050)Gcc>Tcc	p.A350S	SOX7_ENST00000554914.1_Missense_Mutation_p.A402S|SOX7_ENST00000553390.1_Missense_Mutation_p.A402S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	350	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCACTGAGGGCCATGGCCCCT	0.597000													3	30					0.115264	0.117131	1	1	0
PIGM	93183	broad.mit.edu	37	1	160001137	160001137	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:160001137C>G	ENST00000368090.2	-	1	646	c.393G>C	c.(391-393)tgG>tgC	p.W131C		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	131					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.W131C(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTAAGAAGCCAAAAGACAC	0.562000													29	149					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154332	22154332	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:22154332G>T	ENST00000397126.4	-	4	3652	c.3504C>A	c.(3502-3504)ccC>ccA	p.P1168P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P1040P(4)|p.P1168P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTA	0.363000													29	32					7.16026e-08	7.98767e-08	1	1	0
ZNF852	285346	broad.mit.edu	37	3	44541963	44541963	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:44541963G>A	ENST00000436261.1	-	4	466	c.306C>T	c.(304-306)ccC>ccT	p.P102P	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	102					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P102P(4)|p.P52P(2)		endometrium(2)|kidney(1)|lung(5)	8						CTTCATTTGAGGGTTGTCCTT	0.408000													20	19					0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65152098	65152098	+	Silent	SNP	C	C	T	rs28503503		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:65152098C>T	ENST00000323544.4	+	4	413	c.285C>T	c.(283-285)agC>agT	p.S95S	AC069368.3_ENST00000437723.1_Silent_p.S95S	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	95	PH.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGGTCAGCGACATCAAAT	0.483000													11	291					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429161	10429161	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:10429161T>A	ENST00000245503.5	-	31	4604	c.4220A>T	c.(4219-4221)gAg>gTg	p.E1407V	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1407V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1407					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACATGTTCCTCAGCTGCCTG	0.483000													4	79					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827176	5827176	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:5827176C>A	ENST00000381095.3	-	4	1357	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264Y|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244Y	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	244					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.D244F(1)|p.D244Y(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTCTTGGGGTCCCCGCCAAAG	0.567000													10	37					5.16669e-11	5.92164e-11	1	1	0
TOMM70A	9868	broad.mit.edu	37	3	100100548	100100548	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:100100548C>A	ENST00000284320.5	-	5	1243	c.795G>T	c.(793-795)acG>acT	p.T265T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	265					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.T265T(2)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGATATCATCCGTGAAAGAAC	0.378000													70	168					3.4779e-39	4.36476e-39	1	1	0
ATMIN	23300	broad.mit.edu	37	16	81069732	81069732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:81069732G>T	ENST00000299575.4	+	1	281	c.257G>T	c.(256-258)tGc>tTc	p.C86F		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	86					response to DNA damage stimulus	nucleus	zinc ion binding	p.C86F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AACATCCTGTGCACCGTGCGC	0.736000													3	8					0.00909568	0.00943395	1	1	0
MYO7A	4647	broad.mit.edu	37	11	76871264	76871264	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:76871264G>C	ENST00000409709.3	+	11	1408	c.1136G>C	c.(1135-1137)gGg>gCg	p.G379A	MYO7A_ENST00000409893.1_Missense_Mutation_p.G379A|MYO7A_ENST00000458637.2_Missense_Mutation_p.G379A|MYO7A_ENST00000409619.2_Missense_Mutation_p.G368A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	379	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.G379A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCACCCGCGGGGAGACGGTG	0.667000													4	10					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35042966	35042966	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:35042966C>A	ENST00000312292.5	+	2	387	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	C9orf131_ENST00000421362.2_Missense_Mutation_p.L66M|C9orf131_ENST00000354479.5_Missense_Mutation_p.L41M	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	114								p.L114M(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			cgaggCATCTCTGGATCCACT	0.557000													58	55					9.40535e-28	1.14599e-27	1	1	0
CTBP2	1488	broad.mit.edu	37	10	126683170	126683170	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:126683170C>A	ENST00000309035.6	-	5	2398	c.2268G>T	c.(2266-2268)ggG>ggT	p.G756G	CTBP2_ENST00000334808.6_Silent_p.G284G|CTBP2_ENST00000494626.2_Silent_p.G216G|CTBP2_ENST00000531469.1_Silent_p.G216G|CTBP2_ENST00000411419.2_Silent_p.G216G|CTBP2_ENST00000337195.5_Silent_p.G216G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	216					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	p.G756G(1)|p.G216G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ACCGCTCGATCCCATCCTGCA	0.557000													28	67					2.42023e-17	2.86546e-17	1	1	0
PRG4	10216	broad.mit.edu	37	1	186277527	186277527	+	Silent	SNP	T	T	C	rs75928540	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:186277527T>C	ENST00000445192.2	+	7	2721	c.2676T>C	c.(2674-2676)agT>agC	p.S892S	PRG4_ENST00000367485.4_Silent_p.S799S|PRG4_ENST00000367483.4_Silent_p.S851S|PRG4_ENST00000367484.3_Silent_p.S421S|PRG4_ENST00000367486.3_Silent_p.S849S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	892					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.S892S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTGAAAACAGTCCCAAGGAAC	0.458000													4	40					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86311732	86311732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:86311732G>T	ENST00000337975.5	-	2	1584	c.1310C>A	c.(1309-1311)gCc>gAc	p.A437D	KLHL25_ENST00000536947.1_Missense_Mutation_p.A437D|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	437						cytoplasm		p.A437D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACCACTGCGGCATTGCTGAC	0.587000													11	55					7.93312e-07	8.73339e-07	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													5	59					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564674	37564674	+	Missense_Mutation	SNP	G	G	A	rs138417070	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:37564674G>A	ENST00000300651.6	-	17	4023	c.3800C>T	c.(3799-3801)aCg>aTg	p.T1267M	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1267	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.T1267M(2)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGAAGATGCCGTACAGGAATT	0.478000										HNSCC(31;0.082)			5	84					0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1920356	1920356	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:1920356C>T	ENST00000434971.2	-	3	156	c.124G>A	c.(124-126)Gag>Aag	p.E42K				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	0								p.E42K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGTCATCCTCAGCTTCCTGT	0.532000													3	23					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128366435	128366435	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:128366435G>A	ENST00000389524.4	+	22	2849	c.2796G>A	c.(2794-2796)caG>caA	p.Q932Q	MYO7B_ENST00000428314.1_Silent_p.Q932Q|MYO7B_ENST00000409816.2_Silent_p.Q932Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	932						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.Q932Q(4)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGAGGGCCAGGCCTCGCCGC	0.622000													5	9					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599915	123599915	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:123599915G>A	ENST00000340011.5	+	5	1779	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	SPAM1_ENST00000460182.1_Silent_p.E474E|SPAM1_ENST00000402183.2_Silent_p.E474E|SPAM1_ENST00000439500.1_Silent_p.E474E|SPAM1_ENST00000223028.7_Silent_p.E474E	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	474					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.E474E(4)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCCCATGGAGACAGAAGAAC	0.383000													59	142					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88935340	88935340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:88935340C>A	ENST00000556564.1	-	18	3600	c.3316G>T	c.(3316-3318)Gtc>Ttc	p.V1106F	PTPN21_ENST00000328736.3_Missense_Mutation_p.V1106F	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1106	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.V1106F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCAGTGGACCAACAACGGA	0.498000													8	107					0.411799	0.415106	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163253285	163253285	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:163253285C>G	ENST00000332142.5	-	11	2677	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	860					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.E860Q(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAAGTCAACTCTAGGTTTGTT	0.363000													79	61					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66933233	66933233	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:66933233C>G	ENST00000269080.2	-	4	462	c.325G>C	c.(325-327)Gat>Cat	p.D109H	ABCA8_ENST00000586539.1_Missense_Mutation_p.D109H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	109						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D109H(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTTTCCTCATCTGGCAGTCCC	0.338000													56	78					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51581323	51581323	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:51581323C>T	ENST00000391802.1	-	7	963	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	KLK14_ENST00000156499.2_Missense_Mutation_p.V249I	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	249	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	p.V233I(2)|p.V249I(2)		kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		TTGGTGTAGACACCGGGGTAG	0.622000													18	113					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86305044	86305044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:86305044C>T	ENST00000263857.6	-	11	1696	c.1318G>A	c.(1318-1320)Gct>Act	p.A440T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A440T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	440				YA -> ST (in Ref. 1; AAC99959).	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.A440T(2)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGCGCGCAGCGTAGTCCACT	0.453000													77	407					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59988888	59988888	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:59988888C>G	ENST00000444766.3	-	7	1046	c.971G>C	c.(970-972)gGa>gCa	p.G324A	INTS2_ENST00000251334.6_Missense_Mutation_p.G316A	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	324					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.G324A(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CACCTGCTGTCCATTTCGGAT	0.388000													44	77					0	0	1	0	0
SLC35A1	10559	broad.mit.edu	37	6	88218187	88218187	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:88218187G>A	ENST00000369552.4	+	6	651	c.624G>A	c.(622-624)gtG>gtA	p.V208V	SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000544441.1_Silent_p.V74V|SLC35A1_ENST00000369556.3_Intron|C6orf165_ENST00000506888.1_3'UTR	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	208					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity	p.V208V(2)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTTTGGGTGAGAAACATTC	0.294000													28	42					0	0	1	0	0
SFTPC	6440	broad.mit.edu	37	8	22019351	22019351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:22019351G>A	ENST00000521315.1	+	1	42	c.10G>A	c.(10-12)Ggc>Agc	p.G4S	SFTPC_ENST00000524255.1_Missense_Mutation_p.G4S|SFTPC_ENST00000522109.1_Missense_Mutation_p.G4S|SFTPC_ENST00000520605.1_Missense_Mutation_p.G4S|SFTPC_ENST00000437090.2_Missense_Mutation_p.G4S|SFTPC_ENST00000318561.3_Missense_Mutation_p.G4S			P11686	PSPC_HUMAN	surfactant protein C	4					respiratory gaseous exchange	extracellular space		p.G4S(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GATGGATGTGGGCAGCAAAGA	0.587000													3	30					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280019	73280019	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:73280019C>T	ENST00000320531.2	+	3	650	c.614C>T	c.(613-615)aCc>aTc	p.T205I		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	205						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TATCTCATCACCTGGACCACC	0.617000													5	108					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108434855	108434855	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:108434855A>C	ENST00000263054.6	-	14	1899	c.1892T>G	c.(1891-1893)tTt>tGt	p.F631C	SORCS1_ENST00000344440.6_Missense_Mutation_p.F631C|SORCS1_ENST00000369698.1_Missense_Mutation_p.F166C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	631						integral to membrane	neuropeptide receptor activity|protein binding	p.F631C(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCATCCACAAAAAGTGGAAT	0.398000													137	163					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75756266	75756266	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:75756266C>T	ENST00000260113.2	+	3	503	c.324C>T	c.(322-324)tgC>tgT	p.C108C	PI15_ENST00000523773.1_Silent_p.C108C|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	108						extracellular region	peptidase inhibitor activity	p.C108Y(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CGGCTACTTGCATTTGGGACC	0.433000													57	214					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894884	139894884	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:139894884C>T	ENST00000458420.3	+	2	391	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	67	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A67A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACTGGTAGCCCTGGATAAAG	0.468000										HNSCC(16;0.037)			36	218					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345909	119345909	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:119345909C>T	ENST00000338891.7	-	2	672	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000352896.5_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.E77K|FAM184A_ENST00000368475.4_5'UTR|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	77								p.E77K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTTCTTCTTCATGAGCATCT	0.338000													43	23					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131630701	131630701	+	Splice_Site	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:131630701A>T	ENST00000200652.3	+	1	566	c.393_splice	c.e1+1	p.E131_splice	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	131					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E131V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCGTGACCGAGGTGGGTGCC	0.701000													2	2					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202874	28202874	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:28202874C>A	ENST00000354638.3	-	16	1799	c.1644G>T	c.(1642-1644)aaG>aaT	p.K548N	OCA2_ENST00000382996.2_Missense_Mutation_p.K548N|OCA2_ENST00000353809.5_Missense_Mutation_p.K524N	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	548					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.K548N(2)|p.K548K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATCTCGTGCTTCAGTTCTG	0.612000									Oculocutaneous Albinism				22	54					2.79863e-10	3.19299e-10	1	1	0
HNRNPC	3183	broad.mit.edu	37	14	21699132	21699132	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:21699132G>A	ENST00000320084.7	-	3	580	c.341C>T	c.(340-342)cCg>cTg	p.P114L	HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000555914.1_Intron|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000336053.6_Intron|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P114L|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000553753.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000449098.1_Intron	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	114						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	p.P114L(1)		breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TAGAGGGGACGGAGAAGGGTG	0.478000													17	247					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73458031	73458031	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:73458031T>C	ENST00000377110.2	-	5	932	c.689A>G	c.(688-690)cAt>cGt	p.H230R	TRPM3_ENST00000377105.1_Missense_Mutation_p.H77R|TRPM3_ENST00000377111.2_Missense_Mutation_p.H230R|TRPM3_ENST00000396280.5_Missense_Mutation_p.H77R|TRPM3_ENST00000358082.3_Missense_Mutation_p.H77R|TRPM3_ENST00000361823.5_Missense_Mutation_p.H77R|TRPM3_ENST00000377101.1_Missense_Mutation_p.H77R|TRPM3_ENST00000396285.1_Missense_Mutation_p.H77R|TRPM3_ENST00000396292.4_Missense_Mutation_p.H77R|TRPM3_ENST00000396283.1_Missense_Mutation_p.H77R|TRPM3_ENST00000377106.1_Missense_Mutation_p.H77R|TRPM3_ENST00000408909.2_Missense_Mutation_p.H77R|TRPM3_ENST00000377097.3_Missense_Mutation_p.H77R|TRPM3_ENST00000423814.3_Missense_Mutation_p.H232R|TRPM3_ENST00000360823.2_Missense_Mutation_p.H77R|TRPM3_ENST00000357533.2_Missense_Mutation_p.H232R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	230						integral to membrane	calcium channel activity	p.H77R(1)|p.H232R(1)|p.H230R(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATCGCCAACATGACGAATAAC	0.403000													6	61					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81601108	81601108	+	Missense_Mutation	SNP	C	C	T	rs78086631	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:81601108C>T	ENST00000356860.3	-	26	2464	c.2126G>A	c.(2125-2127)aGt>aAt	p.S709N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S721N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	721						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTCTGCTTACTCCAGTAATT	0.308000													4	80					0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12939476	12939476	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:12939476C>T	ENST00000393233.2	-	5	785	c.236G>A	c.(235-237)aGg>aAg	p.R79K	RTBDN_ENST00000589272.1_Silent_p.Q152Q|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000458671.2_Silent_p.Q120Q|RTBDN_ENST00000322912.5_Silent_p.Q152Q|RTBDN_ENST00000592204.1_Silent_p.Q130Q	NM_001270440.1	NP_001257369.1	Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region		p.Q152Q(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCTACCAGGCCTGGCAGAGCT	0.647000													4	13					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077532	19077532	+	Missense_Mutation	SNP	G	G	A	rs60756581	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:19077532G>A	ENST00000329773.2	-	2	505	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	140					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.R140C(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGGGGCGGCGGCAGCGATAC	0.607000													64	222					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64045267	64045267	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:64045267C>A	ENST00000443617.2	-	8	1879	c.1792G>T	c.(1792-1794)Gat>Tat	p.D598Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	598					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.D598Y(4)		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						CTGTTGGTATCACCATGACCA	0.343000													18	79					0.006122	0.0064564	1	1	0
FLNB	2317	broad.mit.edu	37	3	58156414	58156414	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:58156414G>T	ENST00000295956.4	+	46	7899	c.7734G>T	c.(7732-7734)agG>agT	p.R2578S	FLNB_ENST00000429972.2_Missense_Mutation_p.R2567S|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.R2398S|FLNB_ENST00000358537.3_Missense_Mutation_p.R2554S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.R2537S|FLNB_ENST00000493452.1_Missense_Mutation_p.R2385S|FLNB_ENST00000490882.1_Missense_Mutation_p.R2609S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2578	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.R2609S(1)|p.R2578S(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCAAGGAGAGGGGCGATTATG	0.547000													4	85					1	1	1	1	0
HOXB3	3213	broad.mit.edu	37	17	46628504	46628504	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:46628504C>T	ENST00000470495.1	-	2	1935	c.488G>A	c.(487-489)gGa>gAa	p.G163E	HOXB3_ENST00000311626.4_Missense_Mutation_p.G163E|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.G29E|HOXB3_ENST00000460160.1_Missense_Mutation_p.G31E|HOXB3_ENST00000472863.1_Missense_Mutation_p.G90E|HOXB3_ENST00000485909.2_Missense_Mutation_p.G31E|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.G163E|HOXB3_ENST00000476342.1_Missense_Mutation_p.G163E|HOXB3_ENST00000489475.1_Missense_Mutation_p.G90E			P14651	HXB3_HUMAN	homeobox B3	163	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G163E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						accactgcctccgccgccgcc	0.711000													2	0					0	0	1	0	0
CEP57	9702	broad.mit.edu	37	11	95546154	95546154	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:95546154G>C	ENST00000325542.5	+	3	499	c.261G>C	c.(259-261)agG>agC	p.R87S	CEP57_ENST00000537677.1_Missense_Mutation_p.R60S|CEP57_ENST00000538658.1_Missense_Mutation_p.R87S|CEP57_ENST00000325486.5_Missense_Mutation_p.R87S|CEP57_ENST00000541150.1_Missense_Mutation_p.R78S|CEP57_ENST00000536587.1_3'UTR	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	87	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	p.R87S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTTGAGAGGATTCAGGCAG	0.368000									Mosaic Variegated Aneuploidy Syndrome				25	151					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	515659	515659	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:515659G>C	ENST00000453061.2	+	8	1649	c.1543G>C	c.(1543-1545)Gcc>Ccc	p.A515P	PIGG_ENST00000310340.5_Missense_Mutation_p.A507P|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.A382P|PIGG_ENST00000509768.1_Missense_Mutation_p.A426P|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.A426P|PIGG_ENST00000536264.1_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	515					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.A507P(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GATGGTGCTGGCCTCGGCGCT	0.587000													21	58					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757573	99757573	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:99757573G>A	ENST00000360039.4	-	4	1831	c.1439C>T	c.(1438-1440)aCt>aTt	p.T480I	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.T480I|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.T418I	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	480					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCCTTGAAGTCTTGAGGGG	0.547000													6	73					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46305469	46305469	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:46305469C>A	ENST00000221538.3	-	4	1849	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L	RSPH6A_ENST00000597055.1_Silent_p.L569L|RSPH6A_ENST00000600188.1_Silent_p.L305L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	569	Glu-rich.					intracellular		p.L569L(1)		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						cctcctcccccaggtcctcct	0.627000													2	1					0.0784	0.0799935	1	1	0
RYR2	6262	broad.mit.edu	37	1	237995884	237995884	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:237995884G>T	ENST00000366574.2	+	105	15158	c.14841G>T	c.(14839-14841)agG>agT	p.R4947S	RYR2_ENST00000542537.1_Missense_Mutation_p.R4931S|RYR2_ENST00000360064.6_Missense_Mutation_p.R4953S|RYR2_ENST00000462585.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAAGAAAGGTGTTGGGAAT	0.388000													48	110					9.40535e-28	1.14599e-27	1	1	0
SLC6A16	28968	broad.mit.edu	37	19	49812634	49812634	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:49812634A>C	ENST00000454748.3	-	6	1112	c.911T>G	c.(910-912)aTc>aGc	p.I304S	SLC6A16_ENST00000335875.4_Missense_Mutation_p.I304S			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	304						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.I304S(2)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ACCGACAATGATGAAACAGGG	0.493000													11	81					0	0	0.020292	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444131	5444131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:5444131C>A	ENST00000300778.4	+	1	791	c.701C>A	c.(700-702)gCt>gAt	p.A234D	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A234D(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACCTGGGCTGAGCGACTC	0.483000													96	131					1.69331e-39	2.20035e-39	0.048971	1	0
LIG3	3980	broad.mit.edu	37	17	33329065	33329065	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:33329065G>A	ENST00000378526.4	+	18	2749	c.2616G>A	c.(2614-2616)aaG>aaA	p.K872K	LIG3_ENST00000262327.5_Silent_p.K872K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	872					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	p.K872K(1)|p.K785K(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCCCCAGCAAGCCCTCAGCCA	0.572000								Other BER factors					9	103					0	0	0.047766	0	0
RPN2	6185	broad.mit.edu	37	20	35827457	35827457	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:35827457C>G	ENST00000237530.6	+	4	619	c.308C>G	c.(307-309)tCt>tGt	p.S103C	RPN2_ENST00000373622.5_Missense_Mutation_p.S71C	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	103					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.S103C(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCTTAGATCTCTATTTCAAAT	0.468000													70	164					0	0	0.048971	0	0
RMND5B	64777	broad.mit.edu	37	5	177570722	177570722	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:177570722C>T	ENST00000515098.1	+	7	872	c.521C>T	c.(520-522)gCg>gTg	p.A174V	RMND5B_ENST00000313386.4_Missense_Mutation_p.A174V|RMND5B_ENST00000542098.1_Missense_Mutation_p.A161V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	174	CTLH.							p.A174V(2)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGTCCTGCGTTGGAGTAA	0.527000													19	40					0	0	0.043863	0	0
CMYA5	202333	broad.mit.edu	37	5	79054629	79054629	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:79054629A>G	ENST00000446378.2	+	7	11195	c.11164A>G	c.(11164-11166)Aca>Gca	p.T3722A	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3722	Fibronectin type-III 1.					perinuclear region of cytoplasm		p.T3722A(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CACCAGCACAACAATTGCAGT	0.378000													38	30					0	0	0.023175	0	0
RPP40	10799	broad.mit.edu	37	6	4996626	4996626	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:4996626A>T	ENST00000380051.2	-	6	632	c.588T>A	c.(586-588)taT>taA	p.Y196*	RPP40_ENST00000319533.5_Nonsense_Mutation_p.Y173*|RPP40_ENST00000464646.1_Nonsense_Mutation_p.Y136*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	196					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.Y196*(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ACTTGGAAAAATATGACATCA	0.453000													17	162					0	0	0.033300	0	0
PCDH17	27253	broad.mit.edu	37	13	58208543	58208543	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:58208543G>T	ENST00000377918.3	+	1	1889	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	621	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGAGAGCGGGCGTCTCACCT	0.657000													10	162					4.3838e-07	4.73368e-07	0.016723	1	0
DLL4	54567	broad.mit.edu	37	15	41222861	41222861	+	Silent	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:41222861A>T	ENST00000249749.5	+	3	651	c.375A>T	c.(373-375)ccA>ccT	p.P125P		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	125					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	p.P125P(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCACGCGCCAGGAGACGACC	0.652000											OREG0023070	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	25					0	0	0.013537	0	0
CLCA2	9635	broad.mit.edu	37	1	86900422	86900422	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:86900422G>T	ENST00000370565.4	+	6	1128	c.966G>T	c.(964-966)atG>atT	p.M322I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	322	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCAGCAAGATGGCAGAGGTAA	0.398000													5	131					0.000602214	0.000626739	0.014758	1	0
TANK	10010	broad.mit.edu	37	2	162036261	162036261	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:162036261T>A	ENST00000392749.2	+	2	327	c.88T>A	c.(88-90)Tta>Ata	p.L30I	TANK_ENST00000457476.1_Missense_Mutation_p.L30I|TANK_ENST00000402568.1_Missense_Mutation_p.L88I|TANK_ENST00000406287.1_Missense_Mutation_p.L88I|TANK_ENST00000405852.1_Missense_Mutation_p.L30I|TANK_ENST00000403609.1_Missense_Mutation_p.L30I|TANK_ENST00000259075.2_Missense_Mutation_p.L30I	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	30						cytosol	metal ion binding|protein binding	p.L30I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AGTAAAAGAATTACAGCAAAA	0.378000													4	36					0	0	0.014758	0	0
PDZD2	23037	broad.mit.edu	37	5	31799826	31799826	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:31799826G>C	ENST00000438447.1	+	2	859	c.471G>C	c.(469-471)ggG>ggC	p.G157G	PDZD2_ENST00000282493.3_Silent_p.G157G			O15018	PDZD2_HUMAN	PDZ domain containing 2	157	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						ATGTCAGTGGGGCCAGGTAAG	0.572000													7	222					0	0	0.029380	0	0
C11orf30	56946	broad.mit.edu	37	11	76227233	76227233	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:76227233C>T	ENST00000529032.1	+	10	1561	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	C11orf30_ENST00000524490.1_Missense_Mutation_p.R437W|C11orf30_ENST00000525919.1_Missense_Mutation_p.R522W|C11orf30_ENST00000525038.1_Missense_Mutation_p.R536W|C11orf30_ENST00000334736.3_Missense_Mutation_p.R521W|C11orf30_ENST00000533248.1_Missense_Mutation_p.R535W|C11orf30_ENST00000524767.1_Missense_Mutation_p.R536W|C11orf30_ENST00000343878.3_Missense_Mutation_p.R521W			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	521	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R521W(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCCATTGGTCGGATGGCTGC	0.473000													37	128					0	0	0.021022	0	0
LTBP3	4054	broad.mit.edu	37	11	65318931	65318931	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:65318931C>G	ENST00000301873.5	-	10	1831	c.1563G>C	c.(1561-1563)gaG>gaC	p.E521D	LTBP3_ENST00000322147.4_Missense_Mutation_p.E521D|LTBP3_ENST00000536982.1_Missense_Mutation_p.E147D	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	521						extracellular region	calcium ion binding|growth factor binding	p.E521D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCACTGACCTCTCCTCACTCA	0.637000													25	79					0	0	0.027356	0	0
LHX8	431707	broad.mit.edu	37	1	75608822	75608822	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:75608822T>G	ENST00000294638.5	+	6	1073	c.409T>G	c.(409-411)Tct>Gct	p.S137A	LHX8_ENST00000356261.3_Missense_Mutation_p.S127A	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	137	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S137A(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AACTCGCTGCTCTCGATGTGG	0.443000													17	61					0	0	0.055883	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050777	196050777	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:196050777G>T	ENST00000446879.1	-	5	662	c.537C>A	c.(535-537)ttC>ttA	p.F179L	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L155M|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000273695.3_Missense_Mutation_p.L181M			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane		p.L181M(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CTGATGCACAGAAGGGCGGAG	0.567000													19	116					3.57192e-18	4.36991e-18	0.038395	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766598	27766598	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:27766598C>T	ENST00000451261.2	+	5	1985	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.A496V(2)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTGTGTTGGCGTGCAGTGGC	0.473000													17	4					0	0	0.028581	0	0
PIK3R3	8503	broad.mit.edu	37	1	46511639	46511639	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:46511639A>G	ENST00000262741.5	-	9	1827	c.1138T>C	c.(1138-1140)Ttc>Ctc	p.F380L	PIK3R3_ENST00000423209.1_Missense_Mutation_p.F321L|PIK3R3_ENST00000354242.4_Missense_Mutation_p.F321L|PIK3R3_ENST00000340332.6_Missense_Mutation_p.F285L|PIK3R3_ENST00000372006.1_Missense_Mutation_p.F380L|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000420542.1_Missense_Mutation_p.F380L|PIK3R3_ENST00000540385.1_Missense_Mutation_p.F426L	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	380	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	p.F380L(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CGAATTAAGAATGCACCATCA	0.398000													30	132					0	0	0.054565	0	0
DDX42	11325	broad.mit.edu	37	17	61869884	61869884	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:61869884G>A	ENST00000359353.5	+	0	300				DDX42_ENST00000578681.1_Missense_Mutation_p.D112N|DDX42_ENST00000583590.1_Missense_Mutation_p.D112N|DDX42_ENST00000457800.2_Missense_Mutation_p.D112N|DDX42_ENST00000389924.2_Missense_Mutation_p.D112N			Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.D112N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTGACAGCGATGATGATCC	0.398000													15	102					0	0	0.012319	0	0
EBF3	253738	broad.mit.edu	37	10	131646712	131646712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:131646712G>A	ENST00000368648.3	-	11	1117	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.Q358*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	358					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.Q349*(3)|p.Q358*(3)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCAACCTCTGAAAGCCGTAA	0.468000													53	192					0	0	0.048971	0	0
PTPRT	11122	broad.mit.edu	37	20	40730910	40730910	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:40730910G>A	ENST00000373198.3	-	27	3869	c.3634C>T	c.(3634-3636)Cgg>Tgg	p.R1212W	PTPRT_ENST00000373193.3_Missense_Mutation_p.R1193W|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1180W|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1190W|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1189W|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1200W|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1199W	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1190	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCCTCGGGCCGCACACGGGGT	0.562000													5	203					0	0	0.021553	0	0
PARP11	57097	broad.mit.edu	37	12	3938098	3938098	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:3938098G>A	ENST00000228820.4	-	3	390	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PARP11_ENST00000427057.2_Intron|PARP11_ENST00000447133.3_Intron|PARP11_ENST00000397096.2_Silent_p.F75F	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	75	WWE.						NAD+ ADP-ribosyltransferase activity	p.F75F(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTGTAGCTGAATTTGGAAG	0.358000													11	80					0	0	0.008291	0	0
AGPS	8540	broad.mit.edu	37	2	178402821	178402821	+	Silent	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:178402821A>G	ENST00000264167.4	+	20	2021	c.1875A>G	c.(1873-1875)caA>caG	p.Q625Q	AGPS_ENST00000409888.1_Silent_p.Q156Q	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	625					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.Q625Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TACGGAAGCAATGGCTAAAGG	0.388000													6	84					0	0	0.038147	0	0
GPR124	25960	broad.mit.edu	37	8	37692771	37692771	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:37692771G>A	ENST00000412232.2	+	12	1701	c.1688G>A	c.(1687-1689)aGg>aAg	p.R563K	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	563					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R556K(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCTTCCAGAGGAGGGAGGGA	0.672000													23	52					0	0	0.021523	0	0
LATS2	26524	broad.mit.edu	37	13	21557918	21557918	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:21557918G>C	ENST00000382592.4	-	5	2332	c.1927C>G	c.(1927-1929)Cag>Gag	p.Q643E	LATS2_ENST00000542899.1_Missense_Mutation_p.Q643E	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	643					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q643E(4)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTCCGCATCTGCTCCTGCTCA	0.458000													17	64					0	0	0.043863	0	0
NSUN6	221078	broad.mit.edu	37	10	18937479	18937479	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:18937479C>T	ENST00000377304.4	-	2	589	c.171G>A	c.(169-171)gtG>gtA	p.V57V	RP11-139J15.7_ENST00000606425.1_Silent_p.V45V	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	57							methyltransferase activity|RNA binding	p.V57V(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGTATTCACTCTGACAG	0.338000													11	51					0	0	0.010729	0	0
CEP152	22995	broad.mit.edu	37	15	49048414	49048414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:49048414G>A	ENST00000380950.2	-	20	3218	c.3031C>T	c.(3031-3033)Cag>Tag	p.Q1011*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q918*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q1011*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1011					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.Q1011*(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTCTCCTTCTGAAGAAGTAGT	0.393000													35	62					0	0	0.015359	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747039	26747039	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:26747039G>T	ENST00000529632.2	+	12	2625	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V	SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G810V|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G7V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G810V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G810V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	810	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.G810V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACCGACCCCGGAGAGGTGGAT	0.527000													31	214					9.8876e-21	1.23595e-20	0.021022	1	0
FANCM	57697	broad.mit.edu	37	14	45606340	45606340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:45606340G>T	ENST00000267430.5	+	2	662	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	FANCM_ENST00000556036.1_Missense_Mutation_p.V193F|FANCM_ENST00000542564.2_Missense_Mutation_p.V193F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	193	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.V193F(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TACACCTCAGGTCATGGTAAA	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	565					5.35267e-07	5.75287e-07	0.043863	1	0
KMT2C	58508	broad.mit.edu	37	7	151945303	151945303	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:151945303G>C	ENST00000355193.2	-	14	2434	c.2216C>G	c.(2215-2217)tCt>tGt	p.S739C	KMT2C_ENST00000262189.6_Missense_Mutation_p.S739C					lysine (K)-specific methyltransferase 2C																		AGTCATTTCAGAGTCCATCAA	0.363000													3	78					0	0	0.009096	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348204	77348204	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:77348204A>T	ENST00000561277.1	-	0	311				TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000424443.3_Splice_Site_p.F22_splice|TSPAN3_ENST00000267970.4_Splice_Site_p.F86_splice|TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000346495.2_Intron			O60637	TSN3_HUMAN	tetraspanin 3							integral to membrane		p.F86Y(2)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GATGATGACAAACTGTAAGAA	0.289000													41	86					0	0	0.030466	0	0
DCST1	149095	broad.mit.edu	37	1	155015885	155015885	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:155015885G>A	ENST00000295542.1	+	10	1168	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	DCST1_ENST00000392480.1_Missense_Mutation_p.E358K|DCST1_ENST00000368419.2_Missense_Mutation_p.E358K|DCST1_ENST00000423025.2_Missense_Mutation_p.E333K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	358						integral to membrane	zinc ion binding	p.E358K(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	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)			CGTGAGCACCGAGGTGCGGGA	0.667000													27	109					0	0	0.030593	0	0
DNAI2	64446	broad.mit.edu	37	17	72295931	72295931	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:72295931T>G	ENST00000579490.1	+	6	1105	c.970T>G	c.(970-972)Tat>Gat	p.Y324D	DNAI2_ENST00000311014.6_Missense_Mutation_p.Y267D|DNAI2_ENST00000446837.2_Missense_Mutation_p.Y267D|DNAI2_ENST00000307504.5_Missense_Mutation_p.Y124D|DNAI2_ENST00000582036.1_Missense_Mutation_p.Y267D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	267					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.Y267D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGACCCTGTGTATGGCACCAT	0.607000									Kartagener syndrome				38	50					0	0	0.027894	0	0
ZNF655	79027	broad.mit.edu	37	7	99171066	99171066	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:99171066C>T	ENST00000424881.1	+	4	1660	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	ZNF655_ENST00000493277.1_Silent_p.F480F|ZNF655_ENST00000394163.2_Silent_p.F445F|ZNF655_ENST00000252713.4_Silent_p.F445F|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	445					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.F480F(2)|p.F445F(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGGGCAGTTTCAGTCATAGCT	0.408000													41	80					0	0	0.036044	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833121	31833121	+	Silent	SNP	C	C	T	rs142009471		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:31833121C>T	ENST00000544672.1	-	17	1799	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	SLC44A4_ENST00000229729.6_Silent_p.A577A|SLC44A4_ENST00000375562.4_Silent_p.A535A	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	577						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A577A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTAGCATGAACGCATTTTTGG	0.562000													52	269					0	0	0.048971	0	0
PCSK4	54760	broad.mit.edu	37	19	1483662	1483662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:1483662G>A	ENST00000300954.5	-	11	1439	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	460					proteolysis	integral to membrane	serine-type endopeptidase activity	p.Q460*(1)		cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GGGCGGCTCTGGACCCGGACG	0.697000													9	7					0	0	0.028581	0	0
USP47	55031	broad.mit.edu	37	11	11941942	11941942	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:11941942C>T	ENST00000339865.5	+	9	1678	c.915C>T	c.(913-915)ttC>ttT	p.F305F	USP47_ENST00000527733.1_Silent_p.F373F|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.F393F	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	393					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.F305F(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGAAAAGATTCGATTTTGATT	0.358000													16	59					0	0	0.033300	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521497	64521497	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:64521497T>A	ENST00000355086.3	+	20	3057	c.2533T>A	c.(2533-2535)Tta>Ata	p.L845I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L822I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L782I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	845					axon guidance	cytosol		p.L845I(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGACGGCTATTTAGCCAGGTA	0.597000													21	117					0	0	0.055883	0	0
SH2B1	25970	broad.mit.edu	37	16	28878061	28878061	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:28878061G>C	ENST00000337120.5	+	1	3937	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SH2B1_ENST00000322610.8_Missense_Mutation_p.D216H|SH2B1_ENST00000359285.5_Missense_Mutation_p.D216H|SH2B1_ENST00000395532.4_Missense_Mutation_p.D216H|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	216	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.D216H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACTGGTCAGTGATGGAACGTC	0.622000													37	49					0	0	0.021022	0	0
C14orf159	80017	broad.mit.edu	37	14	91691111	91691111	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:91691111G>T	ENST00000518868.1	+	17	2490	c.1800G>T	c.(1798-1800)ctG>ctT	p.L600L	C14orf159_ENST00000525393.2_Silent_p.L471L|C14orf159_ENST00000523816.1_Silent_p.L595L|C14orf159_ENST00000428926.2_Silent_p.L595L|C14orf159_ENST00000412671.2_Silent_p.L600L|C14orf159_ENST00000523771.1_Silent_p.L595L|C14orf159_ENST00000522322.1_Silent_p.L595L|C14orf159_ENST00000256324.10_Silent_p.L600L|C14orf159_ENST00000521077.2_Silent_p.L560L|C14orf159_ENST00000520328.1_Silent_p.L543L|C14orf159_ENST00000523576.1_3'UTR			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	595						mitochondrion		p.L595L(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGATGGGCTGCCCTTCCACA	0.572000													39	18					8.16277e-20	1.01483e-19	0.027894	1	0
PLCB3	5331	broad.mit.edu	37	11	64029532	64029532	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:64029532C>T	ENST00000540288.1	+	17	2125	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L	PLCB3_ENST00000279230.6_Silent_p.L674L|PLCB3_ENST00000325234.5_Silent_p.L607L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	674	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L674L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TTGTTGCGCTCAACTTCCAGA	0.607000													37	88					0	0	0.027894	0	0
ZNF638	27332	broad.mit.edu	37	2	71631126	71631126	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:71631126G>A	ENST00000409544.1	+	17	3586	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	ZNF638_ENST00000355812.3_Missense_Mutation_p.E986K|ZNF638_ENST00000264447.4_Missense_Mutation_p.E986K	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	986					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.E986K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATAAAAGATGAGGTAAATCA	0.328000													38	197					0	0	0.027894	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906022	96906022	+	RNA	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:96906022T>C	ENST00000446816.1	+	0	564																											CCCTTCAGAATACATGGACAA	0.418000													3	27					0	0	0.004672	0	0
MN1	4330	broad.mit.edu	37	22	28193194	28193194	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:28193194G>A	ENST00000302326.4	-	1	4292	c.3338C>T	c.(3337-3339)tCg>tTg	p.S1113L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1113							binding	p.S1113L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTCAGGGGTCGAGGTAGAGTT	0.751000			T	ETV6	"""AML, meningioma"""								6	10					0	0	0.021553	0	0
ZNF160	90338	broad.mit.edu	37	19	53576594	53576594	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:53576594A>C	ENST00000355147.5	-	7	848	c.440T>G	c.(439-441)tTc>tGc	p.F147C	ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000418871.1_Intron			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	0					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACAATCTTAGAAGATAGAACC	0.478000													21	56					0	0	0.055883	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227472	56227472	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:56227472G>A	ENST00000341744.3	-	4	820	c.501C>T	c.(499-501)ctC>ctT	p.L167L	PMEPA1_ENST00000395814.1_Silent_p.L117L|PMEPA1_ENST00000347215.4_Silent_p.L132L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000265626.4_Silent_p.L117L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	167					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.L167L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCGAAGCTGGAGGGTGCAGG	0.642000													14	68					0	0	0.016723	0	0
ZNF160	90338	broad.mit.edu	37	19	53589517	53589517	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:53589517G>T	ENST00000429604.1	-	4	428	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5K|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5K	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	5					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q5K(2)|p.Q5E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CACTTTACCTGAGTAAGGGCC	0.428000													38	84					2.87052e-16	3.40319e-16	0.023175	1	0
VCP	7415	broad.mit.edu	37	9	35059557	35059557	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:35059557G>T	ENST00000358901.6	-	14	2832	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	646					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.P646Q(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCAGGAAGTGGGATGTAGAT	0.522000													39	46					1.49673e-21	1.88114e-21	0.025465	1	0
FBN2	2201	broad.mit.edu	37	5	127599169	127599169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:127599169C>A	ENST00000508053.1	-	69	9114	c.8140G>T	c.(8140-8142)Gag>Tag	p.E2714*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2714*			P35556	FBN2_HUMAN	fibrillin 2	2714	EGF-like 47; 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	p.E2714*(4)		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)		TAGCCCCCCTCCGTGTTAGAG	0.587000													50	59					6.26901e-30	8.05515e-30	0.048971	1	0
TRAV8-6	28680	broad.mit.edu	37	14	22446767	22446767	+	RNA	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:22446767C>G	ENST00000390443.3	+	0	69																											CATCCAGGCTCCTTAAGGGAA	0.517000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	5					0	0	0.010729	0	0
AOX1	316	broad.mit.edu	37	2	201469469	201469469	+	Silent	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:201469469A>G	ENST00000374700.2	+	9	961	c.720A>G	c.(718-720)agA>agG	p.R240R		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	240	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.R240R(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCAGTGAGAGAATGATGTGGT	0.463000													30	117					0	0	0.041601	0	0
GRSF1	2926	broad.mit.edu	37	4	71701932	71701932	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:71701932G>C	ENST00000254799.6	-	2	574	c.457C>G	c.(457-459)Cga>Gga	p.R153G	GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.R35G	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	153	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.R153G(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			CCTTGAGCTCGAATGAGAAAG	0.398000													17	137					0	0	0.028581	0	0
ATP6V1A	523	broad.mit.edu	37	3	113505180	113505180	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:113505180A>C	ENST00000273398.3	+	6	774	c.666A>C	c.(664-666)ccA>ccC	p.P222P	ATP6V1A_ENST00000538620.1_Silent_p.P189P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	222					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.P222P(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAGCTGCCAGCCAATCATC	0.463000													42	223					0	0	0.039052	0	0
RPN2	6185	broad.mit.edu	37	20	35827584	35827584	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:35827584C>G	ENST00000237530.6	+	4	746	c.435C>G	c.(433-435)ctC>ctG	p.L145L	RPN2_ENST00000373622.5_Silent_p.L113L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	145					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.L145L(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AAGAAGCACTCAGTGCCCTTA	0.527000													47	141					0	0	0.042209	0	0
HHEX	3087	broad.mit.edu	37	10	94452138	94452138	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:94452138C>G	ENST00000282728.5	+	2	2174	c.375C>G	c.(373-375)ctC>ctG	p.L125L	HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	125	Pro-rich.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	p.L125L(2)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AACCTCTACTCTGGAGCCCCT	0.617000													64	84					0	0	0.048971	0	0
GPR152	390212	broad.mit.edu	37	11	67219321	67219321	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:67219321G>T	ENST00000312457.2	-	1	879	c.875C>A	c.(874-876)cCc>cAc	p.P292H		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	292						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P292H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCAGAGGAAGGGGCTGAGGCA	0.652000													27	88					9.58827e-17	1.14264e-16	0.048971	1	0
FGF9	2254	broad.mit.edu	37	13	22255205	22255205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:22255205C>A	ENST00000382353.5	+	2	832	c.302C>A	c.(301-303)gCa>gAa	p.A101E		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	101					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	p.A101E(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ATCAGTATAGCAGTGGGCCTG	0.517000													27	22					2.61193e-14	3.06502e-14	0.041601	1	0
SPDYC	387778	broad.mit.edu	37	11	64940248	64940248	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:64940248C>T	ENST00000377185.2	+	6	692	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	204					cell cycle	nucleus	protein kinase binding	p.R204C(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GGTCCCTGTTCGCCTTCCCCG	0.652000													54	87					0	0	0.048971	0	0
TEX33	339669	broad.mit.edu	37	22	37387544	37387544	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:37387544A>T	ENST00000405091.2	-	6	974	c.723T>A	c.(721-723)caT>caA	p.H241Q	TEX33_ENST00000381821.1_Missense_Mutation_p.H241Q|TEX33_ENST00000402860.3_Missense_Mutation_p.H156Q			O43247	EAN57_HUMAN	testis expressed 33	241								p.H156Q(2)									TCTTCCTGCCATGCCAGTGTT	0.542000													120	209					0	0	0.048971	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072821	17072821	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:17072821G>T	ENST00000359963.3	-	1	879	c.620C>A	c.(619-621)gCg>gAg	p.A207E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207G(1)|p.A207V(1)|p.A207E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGGCAGCGCGCACACCCC	0.617000													35	149					1.836e-18	2.25818e-18	0.017118	1	0
AQP12B	653437	broad.mit.edu	37	2	241621963	241621963	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:241621963G>T	ENST00000407834.3	-	1	354	c.292C>A	c.(292-294)Ctg>Atg	p.L98M		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	86						integral to membrane	transporter activity	p.L98M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AACTCCTGCAGGGACACGGTG	0.687000													13	74					7.03913e-09	7.67298e-09	0.013537	1	0
FBXO46	23403	broad.mit.edu	37	19	46216187	46216187	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:46216187G>C	ENST00000317683.3	-	2	700	c.567C>G	c.(565-567)agC>agG	p.S189R		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	189							protein binding	p.S189R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTCGTGGGTAGCTCTGCAGGG	0.697000													5	16					0	0	0.014758	0	0
HRH2	3274	broad.mit.edu	37	5	175111158	175111158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:175111158G>A	ENST00000231683.2	+	1	2695	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	HRH2_ENST00000377291.2_Missense_Mutation_p.A308T	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	308					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTGCAGGCTGGCCAACCGCAA	0.582000													4	117					0	0	0.009096	0	0
TRIO	7204	broad.mit.edu	37	5	14291189	14291189	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:14291189C>T	ENST00000344204.4	+	5	929	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TRIO_ENST00000537187.1_Missense_Mutation_p.A302V|TRIO_ENST00000509967.2_Missense_Mutation_p.A253V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	302					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCAGGCAATGCGGACCTGCAG	0.562000													5	222					0	0	0.014758	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944871	117944871	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:117944871A>C	ENST00000356554.3	+	2	1101	c.366A>C	c.(364-366)gcA>gcC	p.A122A	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	122					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A122A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGGAAGAAGCAAAAGAAAAAT	0.373000													10	34					0	0	0.006214	0	0
CDH9	1007	broad.mit.edu	37	5	26881693	26881693	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:26881693T>C	ENST00000231021.4	-	12	2094	c.1922A>G	c.(1921-1923)aAa>aGa	p.K641R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K641R(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGTTCCTTTTTTCTTTGCCT	0.388000													16	61					0	0	0.033300	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266387	85266387	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:85266387T>A	ENST00000266682.5	-	8	1837	c.1296A>T	c.(1294-1296)ctA>ctT	p.L432L	SLC6A15_ENST00000309283.7_Silent_p.L140L|SLC6A15_ENST00000552192.1_Silent_p.L325L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	432					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.L432L(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TAACTTTATTTAGCTCTTCTT	0.328000													9	60					0	0	0.047766	0	0
VPRBP	9730	broad.mit.edu	37	3	51440599	51440599	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:51440599C>A	ENST00000335891.5	-	16	3105	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1481					interspecies interaction between organisms	cytoplasm|nucleus	protein binding	p.E1485D(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCAGTTCCACCTCCTCATCTG	0.527000													34	26					1.07121e-22	1.35372e-22	0.027894	1	0
UNC13C	440279	broad.mit.edu	37	15	54305729	54305729	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:54305729G>A	ENST00000545554.1	+	1	629	c.629G>A	c.(628-630)aGa>aAa	p.R210K	UNC13C_ENST00000537900.1_Missense_Mutation_p.R210K|UNC13C_ENST00000260323.11_Missense_Mutation_p.R210K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	210					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R210K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGGAATAAGAAGTAAGTCT	0.438000													38	151					0	0	0.023175	0	0
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:204948557C>A	ENST00000367172.4	+	19	2374	c.2046C>A	c.(2044-2046)ccC>ccA	p.P682P	NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000404907.1_Silent_p.P678P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572000													44	216					5.78141e-17	6.92565e-17	0.045515	1	0
KIAA0430	9665	broad.mit.edu	37	16	15705448	15705448	+	Splice_Site	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:15705448C>A	ENST00000396368.3	-	18	3824		c.e18+1		KIAA0430_ENST00000551742.1_Splice_Site|KIAA0430_ENST00000548025.1_Splice_Site|KIAA0430_ENST00000602337.1_Splice_Site|KIAA0430_ENST00000540441.2_Splice_Site|KIAA0430_ENST00000344181.3_Splice_Site	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430							peroxisome	nucleotide binding|RNA binding	p.?(2)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CATCAACTCACCAGTGATAAG	0.368000													31	52					7.16026e-08	7.76821e-08	0.050027	1	0
MARCO	8685	broad.mit.edu	37	2	119735488	119735488	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:119735488A>T	ENST00000541757.1	+	9	889	c.509A>T	c.(508-510)gAg>gTg	p.E170V	MARCO_ENST00000327097.4_Missense_Mutation_p.E248V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	248	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.E248V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACTAAGGGAGAGAAAGGAGAC	0.602000													5	20					0	0	0.014758	0	0
MANF	7873	broad.mit.edu	37	3	51425216	51425216	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:51425216G>A	ENST00000528157.1	+	3	567	c.271G>A	c.(271-273)Gag>Aag	p.E91K	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	91					response to unfolded protein	extracellular region	growth factor activity	p.E91K(1)|p.E94K(1)		lung(1)|ovary(1)	2						AATCATCAATGAGGTATCAAA	0.483000													11	22					0	0	0.008291	0	0
CHCHD6	84303	broad.mit.edu	37	3	126676372	126676372	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:126676372G>A	ENST00000508789.1	+	7	755	c.683G>A	c.(682-684)cGc>cAc	p.R228H	CHCHD6_ENST00000290913.3_Missense_Mutation_p.R227H			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	227	CHCH.							p.R227H(1)		endometrium(2)|large_intestine(3)|lung(3)	8						GCATACCAGCGCTGCGTGAGC	0.617000													16	22					0	0	0.028581	0	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.119_splice	c.e4-1	p.M41_splice	TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000													3	30					0	0	0.009096	0	0
CLCA4	22802	broad.mit.edu	37	1	87045236	87045236	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:87045236G>C	ENST00000370563.3	+	13	2364	c.2322G>C	c.(2320-2322)tgG>tgC	p.W774C	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	774						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.W774C(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTCTTACATGGACAGCACCAG	0.408000													47	75					0	0	0.048971	0	0
WDR70	55100	broad.mit.edu	37	5	37727024	37727024	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:37727024C>G	ENST00000265107.4	+	17	1910	c.1754C>G	c.(1753-1755)tCt>tGt	p.S585C		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	585								p.S585C(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCACTCTCTCTTCCTATATT	0.448000													81	183					0	0	0.048971	0	0
MORC1	27136	broad.mit.edu	37	3	108776234	108776234	+	Silent	SNP	G	G	A	rs144305402		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:108776234G>A	ENST00000232603.5	-	13	1213	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	MORC1_ENST00000483760.1_Silent_p.I377I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	377					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.I377I(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATGCATTTTGATCAAACGGT	0.388000													41	69					0	0	0.033182	0	0
FLNA	2316	broad.mit.edu	37	X	153593044	153593044	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:153593044G>A	ENST00000422373.1	-	13	2120	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	FLNA_ENST00000344736.4_Silent_p.D624D|FLNA_ENST00000360319.4_Silent_p.D624D|FLNA_ENST00000369850.3_Silent_p.D624D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	624					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.D624D(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCCTTGTCGTCACATTCGA	0.632000													44	64					0	0	0.048971	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553584	140553584	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:140553584C>T	ENST00000231137.3	+	1	1342	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P390S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGATGTCCCCTTCATCCT	0.473000													44	34					0	0	0.033182	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878691	12878691	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:12878691T>A	ENST00000524591.2	+	5	992	c.503T>A	c.(502-504)cTc>cAc	p.L168H	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	168							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGTTCCCAGCTCTTCTCAGAG	0.512000													16	52					0	0	0.055883	0	0
VPS33A	65082	broad.mit.edu	37	12	122748723	122748723	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:122748723T>A	ENST00000267199.4	-	2	238	c.126A>T	c.(124-126)ctA>ctT	p.L42L	VPS33A_ENST00000451053.2_Silent_p.L42L|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	42					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.L42L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGGTCCAGTTAGGTATTCAT	0.343000													49	208					0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:7578433G>C	ENST00000420246.2	-	5	629	c.497C>G	c.(496-498)tCa>tGa	p.S166*	TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTGCTGTGACTGCTTGTA	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			66	47					0	0	0.048971	0	0
MDGA2	161357	broad.mit.edu	37	14	47566113	47566113	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:47566113A>T	ENST00000426342.1	-	6	991	c.245T>A	c.(244-246)aTt>aAt	p.I82N	MDGA2_ENST00000357362.3_Missense_Mutation_p.I82N|MDGA2_ENST00000439988.2_Missense_Mutation_p.I311N|MDGA2_ENST00000399232.2_Missense_Mutation_p.I380N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	311	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTATTGGCAATGCAGCTGTA	0.433000													14	406					0	0	0.020292	0	0
GPC5	2262	broad.mit.edu	37	13	93518680	93518680	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:93518680C>T	ENST00000377067.3	+	8	2079	c.1707C>T	c.(1705-1707)ccC>ccT	p.P569P		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	569						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P569P(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTTACTTCCCGGGATTTGGT	0.433000													24	88					0	0	0.016522	0	0
ADARB1	104	broad.mit.edu	37	21	46641940	46641940	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr21:46641940C>T	ENST00000539173.1	+	12	2489	c.2054C>T	c.(2053-2055)tCc>tTc	p.S685F	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.S685F|ADARB1_ENST00000348831.4_Missense_Mutation_p.S645F|ADARB1_ENST00000360697.3_Missense_Mutation_p.S685F	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	685	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.S685F(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGGTTCCCTCCCACTTACTA	0.488000													33	29					0	0	0.050027	0	0
ZNF283	284349	broad.mit.edu	37	19	44351558	44351558	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:44351558G>C	ENST00000324461.7	+	7	1102	c.805G>C	c.(805-807)Ggg>Cgg	p.G269R	ZNF283_ENST00000588797.1_Missense_Mutation_p.G130R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G269R(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TAAGGAATGTGGGAAGACCTT	0.403000													8	65					0	0	0.038147	0	0
FBXW8	26259	broad.mit.edu	37	12	117426577	117426577	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:117426577T>G	ENST00000455858.2	+	7	1017	c.944T>G	c.(943-945)cTt>cGt	p.L315R	FBXW8_ENST00000309909.5_Missense_Mutation_p.L381R	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	381							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		AGAACCCTCCTTTACGCCCAC	0.547000													8	403					0	0	0.038147	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631628	101631628	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:101631628G>A	ENST00000310954.6	-	1	625	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	113					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.L113L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGACGGCCAAGAGGCAGTAGT	0.632000													39	34					0	0	0.033182	0	0
SKOR1	390598	broad.mit.edu	37	15	68119495	68119495	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:68119495C>G	ENST00000380035.2	+	2	1387	c.1329C>G	c.(1327-1329)gcC>gcG	p.A443A	SKOR1_ENST00000389002.1_Silent_p.A399A|SKOR1_ENST00000554054.1_Silent_p.A415A|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554240.1_Silent_p.A404A			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	443					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	p.A443A(1)|p.A399A(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						gcccgggagccagccacttgc	0.786000													2	1					0	0	0.004672	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539807	142539807	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:142539807C>T	ENST00000295992.3	-	8	1336	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R264K	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	344	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.E344K(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAATTTCCCTCTTTGTAGATG	0.507000													30	76					0	0	0.034045	0	0
LUZP2	338645	broad.mit.edu	37	11	25004819	25004819	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:25004819G>T	ENST00000533227.1	+	9	774	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	LUZP2_ENST00000336930.6_Missense_Mutation_p.D249Y	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	249						extracellular region		p.D249Y(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TAAGCTTCCAGATGCAGCGGC	0.428000													14	77					8.60227e-14	9.8434e-14	0.028581	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328774	88328774	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:88328774G>T	ENST00000325089.6	+	2	1350	c.1131G>T	c.(1129-1131)gcG>gcT	p.A377A	SLITRK5_ENST00000400028.3_Silent_p.A136A	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	377	LRRNT.					integral to membrane		p.A377A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTCCCACCGCGTGCTCTTGCA	0.577000													60	84					5.47352e-35	7.07253e-35	0.048971	1	0
RIN3	79890	broad.mit.edu	37	14	93118640	93118640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:93118640C>T	ENST00000216487.7	+	6	1405	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	416	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.Q416*(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTGCCTCCCCAAGGGACCTC	0.657000													23	69					0	0	0.021523	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406296	38406296	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:38406296G>A	ENST00000322350.5	+	7	1127	c.781G>A	c.(781-783)Gat>Aat	p.D261N	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D261N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D27N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	261						cell junction|proteinaceous extracellular matrix|synapse		p.D261N(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGTGAGGATGATGAAGGATT	0.473000													36	55					0	0	0.015359	0	0
BAZ2A	11176	broad.mit.edu	37	12	56999683	56999683	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:56999683C>T	ENST00000179765.5	-	14	2533	c.2334G>A	c.(2332-2334)cgG>cgA	p.R778R	BAZ2A_ENST00000549884.1_Silent_p.R808R|BAZ2A_ENST00000551812.1_Silent_p.R810R|BAZ2A_ENST00000379441.3_Silent_p.R780R			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	810	Lys-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.R810R(4)|p.R846R(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCTGCCTCTGCCGTTCCTCCA	0.517000													8	14					0	0	0.006214	0	0
IFNL3	282617	broad.mit.edu	37	19	39734751	39734751	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:39734751A>G	ENST00000413851.2	-	3	343	c.305T>C	c.(304-306)cTg>cCg	p.L102P		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L102P(1)									CAGAACCTTCAGCGTCAGGGC	0.652000													30	79					0	0	0.054565	0	0
LDHC	3948	broad.mit.edu	37	11	18456297	18456297	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:18456297G>C	ENST00000541669.1	+	5	540	c.429G>C	c.(427-429)ttG>ttC	p.L143F	LDHC_ENST00000546146.1_Missense_Mutation_p.L85F|LDHC_ENST00000535809.1_Missense_Mutation_p.L143F|LDHC_ENST00000544105.1_Missense_Mutation_p.L143F|LDHC_ENST00000280704.4_Missense_Mutation_p.L143F|LDHC_ENST00000536880.1_Missense_Mutation_p.L129F|LDHC_ENST00000537486.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	143					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L143F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TGGATATTTTGACATATATAG	0.308000													28	152					0	0	0.050027	0	0
CCDC158	339965	broad.mit.edu	37	4	77247123	77247123	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:77247123G>C	ENST00000388914.3	-	22	3196	c.3044C>G	c.(3043-3045)tCt>tGt	p.S1015C		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1015	Ser-rich.							p.S1015C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCTTAGGAGAAGAATTGAA	0.358000													65	214					0	0	0.048971	0	0
NFXL1	152518	broad.mit.edu	37	4	47892633	47892633	+	Silent	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:47892633T>G	ENST00000507489.1	-	12	1716	c.1540A>C	c.(1540-1542)Aga>Cga	p.R514R	NFXL1_ENST00000329043.3_Silent_p.R514R|NFXL1_ENST00000381538.3_Silent_p.R514R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	514						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R514R(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTTTACCTCTGTGACAGACA	0.348000													11	40					0	0	0.010729	0	0
ZNF70	7621	broad.mit.edu	37	22	24087099	24087099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:24087099G>A	ENST00000341976.3	-	2	689	c.229C>T	c.(229-231)Caa>Taa	p.Q77*		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	77						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q77*(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GGGATACTTTGATGCTGAACA	0.488000													55	204					0	0	0.048971	0	0
VSTM1	284415	broad.mit.edu	37	19	54545619	54545619	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:54545619G>A	ENST00000338372.2	-	5	574	c.399C>T	c.(397-399)acC>acT	p.T133T	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Intron|VSTM1_ENST00000366170.2_Silent_p.T45T	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	133						integral to membrane		p.T133T(2)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGATGGTTCTGGTGTCTGGAG	0.537000													16	47					0	0	0.033300	0	0
SLC27A1	376497	broad.mit.edu	37	19	17612097	17612097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:17612097C>A	ENST00000252595.7	+	11	1749	c.1652C>A	c.(1651-1653)gCa>gAa	p.A551E	SLC27A1_ENST00000598848.1_Intron|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A551E|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A372E	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	551					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	p.A551E(4)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAGGGTAAGGCAGGGATGGCG	0.642000													40	18					1.76056e-25	2.23717e-25	0.042209	1	0
GADL1	339896	broad.mit.edu	37	3	30769763	30769763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:30769763C>T	ENST00000282538.5	-	15	1687	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	513					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.E513K(2)|p.E329K(2)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGTCTATCTCATCCAGGAGG	0.537000													58	152					0	0	0.048971	0	0
CCDC39	339829	broad.mit.edu	37	3	180372586	180372586	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:180372586C>A	ENST00000273654.4	-	13	1765	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H	CCDC39_ENST00000442201.2_Missense_Mutation_p.Q298H			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	298					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.Q298H(2)|p.Q382H(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCATGGTCCTGATATGCCG	0.343000													5	9					0.014758	0.0152898	0.014758	1	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126881	19126881	+	Silent	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:19126881A>T	ENST00000381440.3	+	1	1628	c.1098A>T	c.(1096-1098)gcA>gcT	p.A366A	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	366						integral to membrane		p.A366A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGGAACGGGCAGCTCCAGGTG	0.667000													30	112					0	0	0.041601	0	0
COL11A1	1301	broad.mit.edu	37	1	103364245	103364245	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:103364245G>A	ENST00000358392.2	-	56	4578	c.4261C>T	c.(4261-4263)Ctt>Ttt	p.L1421F	COL11A1_ENST00000370096.3_Missense_Mutation_p.L1409F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1370F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1293F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1409	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.L1409F(2)|p.L1421F(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGCCCCGAAGACCTTCTGGA	0.453000													43	69					0	0	0.048971	0	0
GOLM1	51280	broad.mit.edu	37	9	88661457	88661457	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:88661457C>G	ENST00000388712.3	-	5	563	c.395G>C	c.(394-396)gGc>gCc	p.G132A	GOLM1_ENST00000388711.3_Missense_Mutation_p.G132A|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	132						Golgi apparatus|integral to plasma membrane		p.G132A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGCAGCCTGCCGTAATTCCT	0.532000													13	10					0	0	0.016723	0	0
ITPR3	3710	broad.mit.edu	37	6	33632679	33632679	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:33632679C>A	ENST00000374316.5	+	13	2241	c.1181C>A	c.(1180-1182)aCc>aAc	p.T394N	ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	394	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.T394N(4)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACCTCTGCACCAACACGTGG	0.662000													24	48					2.48779e-11	2.77764e-11	0.027356	1	0
GALNT11	63917	broad.mit.edu	37	7	151818708	151818708	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:151818708C>T	ENST00000434507.1	+	14	2210	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V	GALNT11_ENST00000452146.2_Silent_p.V510V|GALNT11_ENST00000430044.2_Silent_p.V591V|GALNT11_ENST00000320311.2_Silent_p.V591V|RP5-981O7.2_ENST00000424630.1_RNA			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	591	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V591V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGGGCTCTGTCGCCATGGCGA	0.532000													27	72					0	0	0.034045	0	0
UBE2J1	51465	broad.mit.edu	37	6	90062268	90062268	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:90062268C>A	ENST00000435041.2	-	1	299	c.21G>T	c.(19-21)ctG>ctT	p.L7L		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	7						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.L7L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CCGGACTCTTCAGGTTGTAGC	0.756000													15	7					4.7546e-09	5.20742e-09	0.028581	1	0
LZTS1	11178	broad.mit.edu	37	8	20112537	20112537	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:20112537G>A	ENST00000381569.1	-	2	513	c.156C>T	c.(154-156)caC>caT	p.H52H	LZTS1_ENST00000265801.6_Silent_p.H52H|LZTS1_ENST00000522290.1_Silent_p.H52H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	52					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.H52H(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGGACTTGCCGTGACCGGAGT	0.577000													71	69					0	0	0.048971	0	0
OR56A3	390083	broad.mit.edu	37	11	5969183	5969183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:5969183C>A	ENST00000329564.6	+	1	614	c.607C>A	c.(607-609)Caa>Aaa	p.Q203K		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q203K(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTTTACCAATTTGCTGG	0.478000													31	210					4.74835e-14	5.46061e-14	0.045705	1	0
MSH2	4436	broad.mit.edu	37	2	47709956	47709956	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:47709956G>C	ENST00000233146.2	+	16	2896	c.2673G>C	c.(2671-2673)gtG>gtC	p.V891V	MSH2_ENST00000543555.1_Silent_p.V825V|MSH2_ENST00000461394.1_Intron|MSH2_ENST00000406134.1_Intron	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	891					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.V891V(2)|p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTCCAAGGTGAAACAAATGC	0.313000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	42					0	0	0.010729	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827176	5827176	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:5827176C>A	ENST00000381095.3	-	4	1357	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264Y	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	244					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.D244F(1)|p.D244Y(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTCTTGGGGTCCCCGCCAAAG	0.567000													17	49					3.99206e-14	4.63724e-14	0.043863	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503320	140503320	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:140503320G>A	ENST00000194152.1	+	1	1740	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		580	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.E580E(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGGCCGAGCCGGGCTACC	0.697000													38	29					0	0	0.048971	0	0
ID3	3399	broad.mit.edu	37	1	23885762	23885762	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:23885762C>T	ENST00000374561.5	-	1	523	c.156G>A	c.(154-156)cgG>cgA	p.R52R	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	52	Helix-loop-helix motif.				negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	p.R52R(2)		central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GTACCAGTTCCCGCAGGCGGG	0.642000													32	144					0	0	0.019004	0	0
KPRP	448834	broad.mit.edu	37	1	152733114	152733114	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:152733114C>G	ENST00000368773.1	+	2	1108	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	KPRP_ENST00000606109.1_Missense_Mutation_p.I350M	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	350	Pro-rich.					cytoplasm		p.I350M(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCCATCAGACGCCGCT	0.652000													35	100					0	0	0.021022	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79066595	79066595	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:79066595C>T	ENST00000388820.4	-	13	2134	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	642	Cys-rich.			E -> K (in Ref. 1; AAD56358).	proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCAGCTTCTCGGCAAAGTAC	0.627000													3	20					0	0	0.009096	0	0
CES1P1	51716	broad.mit.edu	37	16	55806422	55806422	+	RNA	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:55806422T>A	ENST00000571348.1	+	0	724					NR_003276.2																						GAGGAGAAAGTGTCTCTGTTC	0.557000													6	25					0	0	0.029380	0	0
PIGM	93183	broad.mit.edu	37	1	160001137	160001137	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:160001137C>G	ENST00000368090.2	-	1	646	c.393G>C	c.(391-393)tgG>tgC	p.W131C		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	131					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.W131C(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTAAGAAGCCAAAAGACAC	0.562000													12	22					0	0	0.028581	0	0
TSSK3	81629	broad.mit.edu	37	1	32829545	32829545	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:32829545G>C	ENST00000373534.3	+	2	1000	c.495G>C	c.(493-495)ctG>ctC	p.L165L	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	165	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L165L(2)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACCGGGAGCTGAGCCAGACCT	0.572000													54	102					0	0	0.048971	0	0
VPS51	738	broad.mit.edu	37	11	64875899	64875899	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:64875899C>T	ENST00000279281.3	+	5	1048	c.956C>T	c.(955-957)gCg>gTg	p.A319V	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		TGCCAGGTGGCGGCGGCCTAC	0.697000													3	46					0	0	0.009096	0	0
HSDL2	84263	broad.mit.edu	37	9	115171264	115171264	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:115171264C>G	ENST00000398805.3	+	4	585	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V	HSDL2_ENST00000539114.1_5'UTR|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_5'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	120						peroxisome	oxidoreductase activity|sterol binding	p.L120V(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GAGATTGGATCTGATGATGAA	0.408000													28	67					0	0	0.054565	0	0
URB2	9816	broad.mit.edu	37	1	229794951	229794951	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:229794951G>A	ENST00000258243.2	+	10	4618	c.4482G>A	c.(4480-4482)caG>caA	p.Q1494Q		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1494						nucleolus		p.P1495S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCTCGCTGCAGCCGGGAATGA	0.502000													6	332					0	0	0.021553	0	0
SAP30BP	29115	broad.mit.edu	37	17	73689542	73689542	+	Missense_Mutation	SNP	G	G	C	rs150596591	byFrequency	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:73689542G>C	ENST00000584667.1	+	4	544	c.287G>C	c.(286-288)cGa>cCa	p.R96P	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R80P	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	96					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.R96P(2)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGAAAAGCGAGACCCCCAG	0.552000													17	73					0	0	0.049695	0	0
INTS2	57508	broad.mit.edu	37	17	59988888	59988888	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:59988888C>G	ENST00000444766.3	-	7	1046	c.971G>C	c.(970-972)gGa>gCa	p.G324A	INTS2_ENST00000251334.6_Missense_Mutation_p.G316A	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	324					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.G324A(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CACCTGCTGTCCATTTCGGAT	0.388000													26	30					0	0	0.024334	0	0
OSER1	51526	broad.mit.edu	37	20	42831602	42831602	+	Splice_Site	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:42831602C>A	ENST00000372970.2	-	5	370	c.191_splice	c.e5+1	p.G64_splice	OSER1_ENST00000255174.2_Splice_Site_p.G64_splice					oxidative stress responsive serine-rich 1									p.G64W(2)									AGCTCTTACCCGTGCCAACTG	0.383000													19	71					1.45105e-14	1.7115e-14	0.038395	1	0
NOXA1	10811	broad.mit.edu	37	9	140327948	140327948	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:140327948T>C	ENST00000341349.2	+	11	1133	c.953T>C	c.(952-954)gTg>gCg	p.V318A	NOXA1_ENST00000392815.2_Missense_Mutation_p.V262A	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	318	OPR.		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	p.V318A(1)		cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		ACTGTCACCGTGCAGTGCGCC	0.711000													5	7					0	0	0.014758	0	0
LRCH4	4034	broad.mit.edu	37	7	100179736	100179736	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:100179736G>T	ENST00000310300.6	-	3	472	c.420C>A	c.(418-420)gtC>gtA	p.V140V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	140					nervous system development	PML body	protein binding	p.V140V(2)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGATGAGGACCCTCAGGG	0.637000													27	61					5.77227e-19	7.13775e-19	0.037714	1	0
FAM184A	79632	broad.mit.edu	37	6	119345909	119345909	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:119345909C>T	ENST00000338891.7	-	2	672	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FAM184A_ENST00000352896.5_5'UTR|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.E77K|FAM184A_ENST00000368475.4_5'UTR	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	77								p.E77K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTTCTTCTTCATGAGCATCT	0.338000													33	21					0	0	0.045705	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356290	37356290	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:37356290C>A	ENST00000217420.1	+	2	849	c.586C>A	c.(586-588)Ccg>Acg	p.P196T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	196					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.P196T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGCTGCGCCCCGCGCTTCCC	0.632000													28	67					3.99451e-17	4.81014e-17	0.041601	1	0
TNMD	64102	broad.mit.edu	37	X	99854065	99854065	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:99854065C>G	ENST00000373031.4	+	6	847	c.630C>G	c.(628-630)gcC>gcG	p.A210A		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	210						integral to membrane		p.A210A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						ACTTTCCTGCCAACGAAAAAA	0.423000													16	5					0	0	0.028581	0	0
GOLGA1	2800	broad.mit.edu	37	9	127693657	127693657	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:127693657T>C	ENST00000373555.4	-	4	497	c.164A>G	c.(163-165)gAt>gGt	p.D55G		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	55						Golgi cisterna membrane		p.D55G(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GGATGAAAGATCTTCTCTGGA	0.433000													39	22					0	0	0.030466	0	0
KCNK18	338567	broad.mit.edu	37	10	118969302	118969302	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:118969302C>A	ENST00000334549.1	+	3	647	c.647C>A	c.(646-648)aCa>aAa	p.T216K		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	216						integral to membrane|plasma membrane		p.T216K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAACTTGGCACATGTCCTTCA	0.527000													48	130					3.16986e-14	3.70086e-14	0.048971	1	0
URB2	9816	broad.mit.edu	37	1	229794952	229794952	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:229794952C>T	ENST00000258243.2	+	10	4619	c.4483C>T	c.(4483-4485)Ccg>Tcg	p.P1495S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1495						nucleolus		p.P1495S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTCGCTGCAGCCGGGAATGAG	0.502000													6	334					0	0	0.021553	0	0
RPP25	54913	broad.mit.edu	37	15	75248342	75248342	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:75248342C>T	ENST00000322177.5	-	1	1463	c.583G>A	c.(583-585)Gag>Aag	p.E195K	RPP25_ENST00000499788.2_Missense_Mutation_p.E195K	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	195					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding	p.E195K(1)		breast(1)|lung(1)	2						GTCTGATCCTCGTCCGCAACC	0.662000													9	50					0	0	0.006214	0	0
DLX1	1745	broad.mit.edu	37	2	172952956	172952956	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:172952956G>C	ENST00000361725.4	+	3	1191	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	247						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGCGCACCAAGAAGCTATGCA	0.617000													7	342					0	0	0.047766	0	0
ZMYM2	7750	broad.mit.edu	37	13	20608525	20608525	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:20608525G>C	ENST00000382869.3	+	11	2351	c.2100G>C	c.(2098-2100)aaG>aaC	p.K700N	ZMYM2_ENST00000382870.2_Missense_Mutation_p.K80N|ZMYM2_ENST00000382883.3_Missense_Mutation_p.K182N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.K700N|ZMYM2_ENST00000382874.2_Missense_Mutation_p.K700N	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	700					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.K700N(4)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTGGCGTTAAGAGACCTTTCT	0.343000													34	84					0	0	0.019004	0	0
OR4C11	219429	broad.mit.edu	37	11	55371624	55371624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:55371624C>A	ENST00000302231.4	-	1	250	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A76S(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATCTAGGGGCTGTGGAAGTT	0.398000													36	20					6.90743e-12	7.7498e-12	0.017118	1	0
PCDHB1	29930	broad.mit.edu	37	5	140431299	140431299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:140431299G>C	ENST00000306549.3	+	1	321	c.244G>C	c.(244-246)Gga>Cga	p.G82R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		82	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G82R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCAAGACGGGAGATTTGTT	0.572000													22	61					0	0	0.014323	0	0
JADE3	9767	broad.mit.edu	37	X	46913983	46913983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:46913983C>T	ENST00000218343.4	+	9	1694	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	PHF16_ENST00000397189.1_Missense_Mutation_p.H466Y	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		466					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.H466Y(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGAAAGCATTCACACTCGAAT	0.453000													18	16					0	0	0.033300	0	0
FMO3	2328	broad.mit.edu	37	1	171083381	171083381	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:171083381A>C	ENST00000367755.4	+	7	1173	c.1062A>C	c.(1060-1062)aaA>aaC	p.K354N	FMO3_ENST00000392085.2_Missense_Mutation_p.K354N|FMO3_ENST00000542847.1_Missense_Mutation_p.K334N|FMO3_ENST00000538429.1_Missense_Mutation_p.K291N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	354					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.K354N(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTTATTTAAAGGAGTATTTC	0.443000													25	81					0	0	0.021523	0	0
TRPC3	7222	broad.mit.edu	37	4	122828657	122828657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:122828657C>A	ENST00000264811.5	-	6	2057	c.1639G>T	c.(1639-1641)Gtg>Ttg	p.V547L	TRPC3_ENST00000513531.1_Missense_Mutation_p.V492L|TRPC3_ENST00000379645.3_Missense_Mutation_p.V620L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	535					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.V547L(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGCTGAGCACAACAGCTATG	0.443000													39	43					3.61848e-18	4.40344e-18	0.030466	1	0
MYCBP2	23077	broad.mit.edu	37	13	77847609	77847609	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:77847609G>C	ENST00000407578.2	-	5	1209	c.943C>G	c.(943-945)Cag>Gag	p.Q315E	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q277E|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q277E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.Q277E(4)|p.Q315E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAAATACCTGAATAGTTTGG	0.398000													14	45					0	0	0.033300	0	0
FSIP2	401024	broad.mit.edu	37	2	186678562	186678562	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:186678562G>C	ENST00000343098.5	+	18	20385	c.20385G>C	c.(20383-20385)acG>acC	p.T6795T	FSIP2_ENST00000424728.1_Silent_p.T6706T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.T1404T(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CACTAAGCACGAGCAGCCTGA	0.358000													33	13					0	0	0.054565	0	0
OCA2	4948	broad.mit.edu	37	15	28211923	28211923	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:28211923A>T	ENST00000354638.3	-	15	1704	c.1549T>A	c.(1549-1551)Tgc>Agc	p.C517S	OCA2_ENST00000353809.5_Missense_Mutation_p.C493S|OCA2_ENST00000382996.2_Missense_Mutation_p.C517S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	517					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.C517S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAACAAGGCAAATCCCAATG	0.493000									Oculocutaneous Albinism				20	47					0	0	0.012319	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626979	108626979	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:108626979G>A	ENST00000264047.2	+	9	1681	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	SLC5A7_ENST00000409059.1_Missense_Mutation_p.D469N|SLC5A7_ENST00000540517.1_Missense_Mutation_p.D364N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	469					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D469N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTACCCTGATGATAATGGTAT	0.398000													16	114					0	0	0.028581	0	0
CAPN3	825	broad.mit.edu	37	15	42702827	42702827	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:42702827C>G	ENST00000397163.3	+	21	2445	c.2226C>G	c.(2224-2226)atC>atG	p.I742M	CAPN3_ENST00000318023.7_Missense_Mutation_p.I736M|CAPN3_ENST00000569136.1_Missense_Mutation_p.I77M|CAPN3_ENST00000397200.4_Missense_Mutation_p.I230M|CAPN3_ENST00000397204.4_Missense_Mutation_p.I77M|CAPN3_ENST00000357568.3_Missense_Mutation_p.I736M|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000561817.1_Missense_Mutation_p.I77M|CAPN3_ENST00000356316.3_Missense_Mutation_p.I649M|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.I650M|CAPN3_ENST00000337571.4_Missense_Mutation_p.I77M	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	742	Domain IV.|EF-hand 3.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.I649M(2)|p.I736M(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCGGCACCATCAACAGCTACG	0.512000													15	30					0	0	0.020292	0	0
KRT74	121391	broad.mit.edu	37	12	52967174	52967174	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:52967174C>T	ENST00000549343.1	-	1	426	c.388G>A	c.(388-390)Gac>Aac	p.D130N	KRT74_ENST00000305620.2_Missense_Mutation_p.D130N			Q7RTS7	K2C74_HUMAN	keratin 74	130	Head.					keratin filament	structural molecule activity	p.D130N(2)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATCTCAGGGTCCAGCTCCACG	0.602000													39	230					0	0	0.039052	0	0
SRSF11	9295	broad.mit.edu	37	1	70687463	70687463	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:70687463G>C	ENST00000370950.3	+	2	226	c.144G>C	c.(142-144)caG>caC	p.Q48H	SRSF11_ENST00000405432.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000370951.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000436161.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000454435.2_Missense_Mutation_p.Q48H			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	48	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.Q48H(2)		large_intestine(3)|ovary(2)|skin(1)	6						GCTCTGAGCAGATGCGGACTC	0.647000													101	109					0	0	0.048971	0	0
TNN	63923	broad.mit.edu	37	1	175049473	175049473	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:175049473G>T	ENST00000239462.4	+	4	1072	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	320	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G320V(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGATTCTTGGTTTGCTGCCT	0.537000													39	136					2.40579e-17	2.91227e-17	0.025465	1	0
FAM47B	170062	broad.mit.edu	37	X	34962140	34962140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:34962140C>T	ENST00000329357.5	+	1	1228	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	398								p.R398C(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCCCCATCTCCGCCTGGTGCT	0.582000													47	18					0	0	0.048971	0	0
MROH7	374977	broad.mit.edu	37	1	55175634	55175634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:55175634G>A	ENST00000421030.2	+	24	4031	c.3746G>A	c.(3745-3747)aGa>aAa	p.R1249K	MROH7_ENST00000454855.2_Missense_Mutation_p.R767K|MROH7_ENST00000409996.1_Missense_Mutation_p.R817K|MROH7_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553.2			maestro heat-like repeat family member 7									p.R1246K(2)|p.R1249K(2)									GATAACTTGAGACATGACCCA	0.572000													25	116					0	0	0.030593	0	0
ZNF208	7757	broad.mit.edu	37	19	22154332	22154332	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:22154332G>T	ENST00000397126.4	-	4	3652	c.3504C>A	c.(3502-3504)ccC>ccA	p.P1168P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P1040P(4)|p.P1168P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTA	0.363000													20	16					3.51602e-12	3.96414e-12	0.049695	1	0
ZNF852	285346	broad.mit.edu	37	3	44541963	44541963	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:44541963G>A	ENST00000436261.1	-	4	466	c.306C>T	c.(304-306)ccC>ccT	p.P102P	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	102					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P102P(4)|p.P52P(2)		endometrium(2)|kidney(1)|lung(5)	8						CTTCATTTGAGGGTTGTCCTT	0.408000													27	17					0	0	0.024334	0	0
C9orf131	138724	broad.mit.edu	37	9	35042966	35042966	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:35042966C>A	ENST00000312292.5	+	2	387	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	C9orf131_ENST00000354479.5_Missense_Mutation_p.L41M|C9orf131_ENST00000421362.2_Missense_Mutation_p.L66M	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	114								p.L114M(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			cgaggCATCTCTGGATCCACT	0.557000													54	43					2.01872e-29	2.57947e-29	0.048971	1	0
ATMIN	23300	broad.mit.edu	37	16	81069732	81069732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:81069732G>T	ENST00000299575.4	+	1	281	c.257G>T	c.(256-258)tGc>tTc	p.C86F		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	86					response to DNA damage stimulus	nucleus	zinc ion binding	p.C86F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AACATCCTGTGCACCGTGCGC	0.736000													8	32					0.000157383	0.000164537	0.038147	1	0
MYO7A	4647	broad.mit.edu	37	11	76871264	76871264	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:76871264G>C	ENST00000409709.3	+	11	1408	c.1136G>C	c.(1135-1137)gGg>gCg	p.G379A	MYO7A_ENST00000409619.2_Missense_Mutation_p.G368A|MYO7A_ENST00000458637.2_Missense_Mutation_p.G379A|MYO7A_ENST00000409893.1_Missense_Mutation_p.G379A	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	379	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.G379A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCACCCGCGGGGAGACGGTG	0.667000													5	4					0	0	0.014758	0	0
GPR123	84435	broad.mit.edu	37	10	134896297	134896297	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:134896297G>A	ENST00000607359.1	+	7	1309	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V437M(1)|p.V437L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTGGATGCGTGTGCCAGGG	0.672000													8	28					0	0	0.047766	0	0
PLXND1	23129	broad.mit.edu	37	3	129308193	129308193	+	Splice_Site	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:129308193C>T	ENST00000393239.1	-	2	1667		c.e2+1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACCATACCTACCTTGAGAAGC	0.667000													10	27					0	0	0.016723	0	0
CTBP2	1488	broad.mit.edu	37	10	126683170	126683170	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:126683170C>A	ENST00000309035.6	-	5	2398	c.2268G>T	c.(2266-2268)ggG>ggT	p.G756G	CTBP2_ENST00000334808.6_Silent_p.G284G|CTBP2_ENST00000337195.5_Silent_p.G216G|CTBP2_ENST00000494626.2_Silent_p.G216G|CTBP2_ENST00000531469.1_Silent_p.G216G|CTBP2_ENST00000411419.2_Silent_p.G216G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	216					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	p.G756G(1)|p.G216G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ACCGCTCGATCCCATCCTGCA	0.557000													22	136					2.79863e-10	3.09464e-10	0.024334	1	0
LGI1	9211	broad.mit.edu	37	10	95549856	95549856	+	Splice_Site	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:95549856G>T	ENST00000371418.4	+	5	692	c.431_splice	c.e5-1	p.L144_splice	LGI1_ENST00000542308.1_Splice_Site_p.L96_splice|LGI1_ENST00000371413.3_Splice_Site_p.L144_splice	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	144					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.L144F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTTTTTCCAGGAGCCTTGCAA	0.338000													9	33					2.17888e-05	2.28832e-05	0.006214	1	0
FTH1P3	2498	broad.mit.edu	37	5	17354234	17354234	+	RNA	SNP	C	C	T	rs2652638	by1000genomes	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:17354234C>T	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							CACACTCCATCGCATTCAGCC	0.468000													6	167					0	0	0.020292	0	0
C1orf222	339457	broad.mit.edu	37	1	1920356	1920356	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:1920356C>T	ENST00000434971.2	-	3	156	c.124G>A	c.(124-126)Gag>Aag	p.E42K				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	0								p.E42K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGTCATCCTCAGCTTCCTGT	0.532000													12	59					0	0	0.033300	0	0
MYO7B	4648	broad.mit.edu	37	2	128366435	128366435	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:128366435G>A	ENST00000389524.4	+	22	2849	c.2796G>A	c.(2794-2796)caG>caA	p.Q932Q	MYO7B_ENST00000428314.1_Silent_p.Q932Q|MYO7B_ENST00000409816.2_Silent_p.Q932Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	932						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.Q932Q(4)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGAGGGCCAGGCCTCGCCGC	0.622000													15	20					0	0	0.014323	0	0
SPAM1	6677	broad.mit.edu	37	7	123599915	123599915	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr7:123599915G>A	ENST00000340011.5	+	5	1779	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	SPAM1_ENST00000460182.1_Silent_p.E474E|SPAM1_ENST00000439500.1_Silent_p.E474E|SPAM1_ENST00000402183.2_Silent_p.E474E|SPAM1_ENST00000223028.7_Silent_p.E474E	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	474					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.E474E(4)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCCCATGGAGACAGAAGAAC	0.383000													16	46					0	0	0.028581	0	0
KCNH7	90134	broad.mit.edu	37	2	163253285	163253285	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:163253285C>G	ENST00000332142.5	-	11	2677	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	860					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.E860Q(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAAGTCAACTCTAGGTTTGTT	0.363000													16	22					0	0	0.028581	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080108	57080108	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:57080108A>G	ENST00000532437.1	-	4	2365	c.2054T>C	c.(2053-2055)cTg>cCg	p.L685P	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L685P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	685	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.L685P(2)		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)				GAGGTCGTCCAGCCAGCGGGA	0.647000													47	78					0	0	0.048971	0	0
ABCA8	10351	broad.mit.edu	37	17	66933233	66933233	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:66933233C>G	ENST00000269080.2	-	4	462	c.325G>C	c.(325-327)Gat>Cat	p.D109H	ABCA8_ENST00000586539.1_Missense_Mutation_p.D109H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	109						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D109H(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTTTCCTCATCTGGCAGTCCC	0.338000													21	29					0	0	0.049695	0	0
KLK14	43847	broad.mit.edu	37	19	51581323	51581323	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:51581323C>T	ENST00000391802.1	-	7	963	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	KLK14_ENST00000156499.2_Missense_Mutation_p.V249I	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	249	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	p.V233I(2)|p.V249I(2)		kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		TTGGTGTAGACACCGGGGTAG	0.622000													22	156					0	0	0.018920	0	0
POLR1A	25885	broad.mit.edu	37	2	86305044	86305044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:86305044C>T	ENST00000263857.6	-	11	1696	c.1318G>A	c.(1318-1320)Gct>Act	p.A440T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A440T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	440				YA -> ST (in Ref. 1; AAC99959).	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.A440T(2)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGCGCGCAGCGTAGTCCACT	0.453000													48	215					0	0	0.048971	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704500	29704500	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:29704500C>T	ENST00000471961.1	+	1	1453	c.405C>T	c.(403-405)agC>agT	p.S135S	GAS2L1_ENST00000360113.2_Silent_p.S135S|GAS2L1_ENST00000407647.2_Silent_p.S135S|GAS2L1_ENST00000406549.3_Silent_p.S135S|GAS2L1_ENST00000341313.6_Silent_p.S135S|GAS2L1_ENST00000403764.1_Silent_p.S135S|GAS2L1_ENST00000407854.1_Silent_p.S135S			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	135	CH.				cell cycle arrest	cytoplasm|cytoskeleton		p.S135S(2)		endometrium(2)|lung(2)|prostate(1)	5						ACGAGAAGAGCGTGGTGCTGT	0.667000													5	30					0	0	0.014758	0	0
SLC35A1	10559	broad.mit.edu	37	6	88218187	88218187	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:88218187G>A	ENST00000369552.4	+	6	651	c.624G>A	c.(622-624)gtG>gtA	p.V208V	SLC35A1_ENST00000544441.1_Silent_p.V74V|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000369556.3_Intron	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	208					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity	p.V208V(2)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTTTGGGTGAGAAACATTC	0.294000													16	14					0	0	0.055883	0	0
PI15	51050	broad.mit.edu	37	8	75756265	75756265	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:75756265G>A	ENST00000260113.2	+	3	502	c.323G>A	c.(322-324)tGc>tAc	p.C108Y	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.C108Y|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	108						extracellular region	peptidase inhibitor activity	p.C108Y(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GCGGCTACTTGCATTTGGGAC	0.428000													29	128					0	0	0.037714	0	0
ZNF566	84924	broad.mit.edu	37	19	36967453	36967453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:36967453G>A	ENST00000454319.1	-	2	141	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000472909.2_5'UTR	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q3*(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TATCTCACCTGAGCCATGGCT	0.398000													13	66					0	0	0.016723	0	0
SORCS1	114815	broad.mit.edu	37	10	108434855	108434855	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:108434855A>C	ENST00000263054.6	-	14	1899	c.1892T>G	c.(1891-1893)tTt>tGt	p.F631C	SORCS1_ENST00000369698.1_Missense_Mutation_p.F166C|SORCS1_ENST00000344440.6_Missense_Mutation_p.F631C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	631						integral to membrane	neuropeptide receptor activity|protein binding	p.F631C(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCATCCACAAAAAGTGGAAT	0.398000													49	78					0	0	0.048971	0	0
SPACA1	81833	broad.mit.edu	37	6	88773828	88773828	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:88773828A>T	ENST00000237201.1	+	6	739	c.622A>T	c.(622-624)Aga>Tga	p.R208*	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	208						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ATTGCAGATGAGAAGATCAAG	0.323000													5	54					0	0	0.014758	0	0
PI15	51050	broad.mit.edu	37	8	75756266	75756266	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:75756266C>T	ENST00000260113.2	+	3	503	c.324C>T	c.(322-324)tgC>tgT	p.C108C	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Silent_p.C108C|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	108						extracellular region	peptidase inhibitor activity	p.C108Y(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CGGCTACTTGCATTTGGGACC	0.433000													29	128					0	0	0.034045	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894884	139894884	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:139894884C>T	ENST00000458420.3	+	2	391	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	67	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A67A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACTGGTAGCCCTGGATAAAG	0.468000										HNSCC(16;0.037)			8	108					0	0	0.047766	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077532	19077532	+	Missense_Mutation	SNP	G	G	A	rs60756581	byFrequency	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:19077532G>A	ENST00000329773.2	-	2	505	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	140					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.R140C(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGGGGCGGCGGCAGCGATAC	0.607000													22	90					0	0	0.018920	0	0
SLC22A4	6583	broad.mit.edu	37	5	131630701	131630701	+	Splice_Site	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:131630701A>T	ENST00000200652.3	+	1	566	c.393_splice	c.e1+1	p.E131_splice	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	131					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.E131V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCGTGACCGAGGTGGGTGCC	0.701000													10	6					0	0	0.010729	0	0
RECK	8434	broad.mit.edu	37	9	36112407	36112407	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:36112407A>T	ENST00000377966.3	+	16	2560	c.1994A>T	c.(1993-1995)cAg>cTg	p.Q665L		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	665	Kazal-like 1.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	p.Q665L(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAGACCATCAGTTTGAGTTT	0.463000													43	68					0	0	0.048971	0	0
OCA2	4948	broad.mit.edu	37	15	28202874	28202874	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:28202874C>A	ENST00000354638.3	-	16	1799	c.1644G>T	c.(1642-1644)aaG>aaT	p.K548N	OCA2_ENST00000353809.5_Missense_Mutation_p.K524N|OCA2_ENST00000382996.2_Missense_Mutation_p.K548N	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	548					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.K548N(2)|p.K548K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATCTCGTGCTTCAGTTCTG	0.612000									Oculocutaneous Albinism				34	56					1.414e-09	1.55608e-09	0.017118	1	0
DST	667	broad.mit.edu	37	6	56480781	56480781	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:56480781C>T	ENST00000370765.6	-	24	7591	c.7484G>A	c.(7483-7485)gGc>gAc	p.G2495D	DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1791					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTACTTTTTGCCAGTAAGAGG	0.507000													5	152					0	0	0.021553	0	0
ZNF611	81856	broad.mit.edu	37	19	53208732	53208732	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:53208732C>G	ENST00000543227.1	-	6	1850	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	ZNF611_ENST00000453741.2_Missense_Mutation_p.E457Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E526Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E457Q|ZNF611_ENST00000319783.1_Missense_Mutation_p.E526Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E457Q	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E526Q(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTATGTGTCTCAAGGCTTGAT	0.358000													109	196					0	0	0.048971	0	0
HNRNPC	3183	broad.mit.edu	37	14	21699132	21699132	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:21699132G>A	ENST00000320084.7	-	3	580	c.341C>T	c.(340-342)cCg>cTg	p.P114L	HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P114L|HNRNPC_ENST00000336053.6_Intron|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000553753.1_Intron|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000555914.1_Intron	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	114						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	p.P114L(1)		breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TAGAGGGGACGGAGAAGGGTG	0.478000													19	168					0	0	0.043863	0	0
RTBDN	83546	broad.mit.edu	37	19	12939476	12939476	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:12939476C>T	ENST00000393233.2	-	5	785	c.236G>A	c.(235-237)aGg>aAg	p.R79K	RTBDN_ENST00000589272.1_Silent_p.Q152Q|RTBDN_ENST00000458671.2_Silent_p.Q120Q|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Silent_p.Q152Q|RTBDN_ENST00000592204.1_Silent_p.Q130Q	NM_001270440.1	NP_001257369.1	Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region		p.Q152Q(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCTACCAGGCCTGGCAGAGCT	0.647000													20	55					0	0	0.021523	0	0
CABLES2	81928	broad.mit.edu	37	20	60971600	60971600	+	Silent	SNP	G	G	C	rs148559612		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:60971600G>C	ENST00000279101.5	-	2	419	c.411C>G	c.(409-411)gcC>gcG	p.A137A		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	137					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGCATCCCACGGCATCTTCCA	0.667000													9	65					0	0	0.010729	0	0
MUC2	4583	broad.mit.edu	37	11	1093344	1093344	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:1093344G>T	ENST00000441003.2	+	30	5190	c.5163G>T	c.(5161-5163)ccG>ccT	p.P1721P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.P1688P|MUC2_ENST00000333592.6_Silent_p.P9P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1713	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.P1688P(1)|p.P1721P(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccccaaccccgacacccatct	0.642000													7	35					2.0095e-06	2.12011e-06	0.029380	1	0
HERC1	8925	broad.mit.edu	37	15	64045267	64045267	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:64045267C>A	ENST00000443617.2	-	8	1879	c.1792G>T	c.(1792-1794)Gat>Tat	p.D598Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	598					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.D598Y(4)		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						CTGTTGGTATCACCATGACCA	0.343000													10	53					7.48243e-07	8.00446e-07	0.006214	1	0
KLHL25	64410	broad.mit.edu	37	15	86311732	86311732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:86311732G>T	ENST00000337975.5	-	2	1584	c.1310C>A	c.(1309-1311)gCc>gAc	p.A437D	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.A437D	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	437						cytoplasm		p.A437D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACCACTGCGGCATTGCTGAC	0.587000													33	130					4.74835e-14	5.46061e-14	0.045705	1	0
TOMM70A	9868	broad.mit.edu	37	3	100100548	100100548	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:100100548C>A	ENST00000284320.5	-	5	1243	c.795G>T	c.(793-795)acG>acT	p.T265T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	265					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.T265T(2)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGATATCATCCGTGAAAGAAC	0.378000													42	59					6.45866e-13	7.35392e-13	0.033182	1	0
HOXB3	3213	broad.mit.edu	37	17	46628504	46628504	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:46628504C>T	ENST00000470495.1	-	2	1935	c.488G>A	c.(487-489)gGa>gAa	p.G163E	HOXB3_ENST00000498678.1_Missense_Mutation_p.G163E|HOXB3_ENST00000476342.1_Missense_Mutation_p.G163E|HOXB3_ENST00000489475.1_Missense_Mutation_p.G90E|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.G31E|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.G31E|HOXB3_ENST00000490677.1_Missense_Mutation_p.G29E|HOXB3_ENST00000311626.4_Missense_Mutation_p.G163E|HOXB3_ENST00000472863.1_Missense_Mutation_p.G90E			P14651	HXB3_HUMAN	homeobox B3	163	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G163E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						accactgcctccgccgccgcc	0.711000													5	8					0	0	0.021553	0	0
CEP57	9702	broad.mit.edu	37	11	95546154	95546154	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:95546154G>C	ENST00000325542.5	+	3	499	c.261G>C	c.(259-261)agG>agC	p.R87S	CEP57_ENST00000537677.1_Missense_Mutation_p.R60S|CEP57_ENST00000538658.1_Missense_Mutation_p.R87S|CEP57_ENST00000541150.1_Missense_Mutation_p.R78S|CEP57_ENST00000325486.5_Missense_Mutation_p.R87S|CEP57_ENST00000536587.1_3'UTR	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	87	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	p.R87S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTTGAGAGGATTCAGGCAG	0.368000									Mosaic Variegated Aneuploidy Syndrome				26	124					0	0	0.018920	0	0
PIGG	54872	broad.mit.edu	37	4	515659	515659	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:515659G>C	ENST00000453061.2	+	8	1649	c.1543G>C	c.(1543-1545)Gcc>Ccc	p.A515P	PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.A426P|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000509768.1_Missense_Mutation_p.A426P|PIGG_ENST00000383028.4_Missense_Mutation_p.A382P|PIGG_ENST00000310340.5_Missense_Mutation_p.A507P|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	515					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.A507P(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GATGGTGCTGGCCTCGGCGCT	0.587000													30	81					0	0	0.041601	0	0
ZNF141	7700	broad.mit.edu	37	4	367007	367007	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:367007G>A	ENST00000240499.7	+	4	930	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	261					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.G261S(2)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGAAGAATGTGGCAAAGCCTT	0.368000													91	81					0	0	0.048971	0	0
RSPH6A	81492	broad.mit.edu	37	19	46305469	46305469	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:46305469C>A	ENST00000221538.3	-	4	1849	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L	RSPH6A_ENST00000600188.1_Silent_p.L305L|RSPH6A_ENST00000597055.1_Silent_p.L569L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	569	Glu-rich.					intracellular		p.L569L(1)		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						cctcctcccccaggtcctcct	0.627000													13	10					2.68362e-12	3.04055e-12	0.013537	1	0
RYR2	6262	broad.mit.edu	37	1	237995884	237995884	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:237995884G>T	ENST00000366574.2	+	105	15158	c.14841G>T	c.(14839-14841)agG>agT	p.R4947S	RYR2_ENST00000360064.6_Missense_Mutation_p.R4953S|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAAGAAAGGTGTTGGGAAT	0.388000													17	21					8.34094e-07	8.88155e-07	0.049695	1	0
KIAA1456	57604	broad.mit.edu	37	8	12878692	12878692	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:12878692C>A	ENST00000524591.2	+	5	993	c.504C>A	c.(502-504)ctC>ctA	p.L168L	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	168							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTTCCCAGCTCTTCTCAGAGT	0.507000													16	53					1.96292e-10	2.18102e-10	0.055883	1	0
EXPH5	23086	broad.mit.edu	37	11	108380461	108380461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:108380461C>T	ENST00000265843.4	-	6	5883	c.5773G>A	c.(5773-5775)Gat>Aat	p.D1925N	EXPH5_ENST00000443411.1_Missense_Mutation_p.D1737N|EXPH5_ENST00000428840.1_Missense_Mutation_p.D1849N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1918N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1925					intracellular protein transport		Rab GTPase binding	p.D1925N(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCTCAAATCATCTTTTAGG	0.408000													47	64					0	0	0.039052	0	0
TTC16	158248	broad.mit.edu	37	9	130479208	130479208	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:130479208T>A	ENST00000373289.3	+	2	184	c.104T>A	c.(103-105)aTc>aAc	p.I35N	PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_5'UTR|TTC16_ENST00000393748.4_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	35							binding	p.I35N(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTGCAGCACATCTTTGGGACC	0.542000													15	23					0	0	1	0	0
EID3	493861	broad.mit.edu	37	12	104698247	104698247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:104698247C>A	ENST00000527879.1	+	1	731	c.535C>A	c.(535-537)Cgt>Agt	p.R179S	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000526390.1_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R179S(1)		large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAAGCTAGAACGTTCTGCACC	0.428000													14	118					4.7546e-09	5.30586e-09	1	1	0
LIG3	3980	broad.mit.edu	37	17	33329065	33329065	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:33329065G>A	ENST00000378526.4	+	18	2749	c.2616G>A	c.(2614-2616)aaG>aaA	p.K872K	LIG3_ENST00000262327.5_Silent_p.K872K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	872					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	p.K872K(1)|p.K785K(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCCCCAGCAAGCCCTCAGCCA	0.572000								Other BER factors					8	152					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177570722	177570722	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:177570722C>T	ENST00000515098.1	+	7	872	c.521C>T	c.(520-522)gCg>gTg	p.A174V	RMND5B_ENST00000542098.1_Missense_Mutation_p.A161V|RMND5B_ENST00000313386.4_Missense_Mutation_p.A174V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	174	CTLH.							p.A174V(2)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGTCCTGCGTTGGAGTAA	0.527000													4	34					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043731	119043731	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:119043731T>G	ENST00000334464.5	-	5	2752	c.2513A>C	c.(2512-2514)gAa>gCa	p.E838A		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	838					intracellular signal transduction		metal ion binding	p.E838A(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTGTTTGTTTTCTGTTAAACC	0.383000													63	71					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996626	4996626	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:4996626A>T	ENST00000380051.2	-	6	632	c.588T>A	c.(586-588)taT>taA	p.Y196*	RPP40_ENST00000464646.1_Nonsense_Mutation_p.Y136*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.Y173*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	196					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.Y196*(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ACTTGGAAAAATATGACATCA	0.453000													39	223					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525430	61525430	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr20:61525430C>G	ENST00000266070.4	-	12	3014	c.2689G>C	c.(2689-2691)Gat>Cat	p.D897H	DIDO1_ENST00000395335.2_Missense_Mutation_p.D897H|DIDO1_ENST00000395343.1_Missense_Mutation_p.D897H|DIDO1_ENST00000395340.1_Missense_Mutation_p.D897H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	897					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.D897H(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAGCTGAATCCGGAGCTGGG	0.478000													11	89					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878061	28878061	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:28878061G>C	ENST00000337120.5	+	1	3937	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SH2B1_ENST00000395532.4_Missense_Mutation_p.D216H|SH2B1_ENST00000359285.5_Missense_Mutation_p.D216H|SH2B1_ENST00000322610.8_Missense_Mutation_p.D216H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	216	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.D216H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACTGGTCAGTGATGGAACGTC	0.622000													11	14					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2977850	2977850	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:2977850A>T	ENST00000342628.2	-	4	838	c.725T>A	c.(724-726)aTg>aAg	p.M242K	FOXM1_ENST00000359843.3_Missense_Mutation_p.M242K|FOXM1_ENST00000361953.3_Missense_Mutation_p.M242K|FOXM1_ENST00000537018.1_5'UTR	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	242					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	p.M242K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TATCATGGCCATGTAAGAGTA	0.498000													64	190					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115636	68115636	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:68115636A>G	ENST00000294304.7	+	2	519	c.413A>G	c.(412-414)aAt>aGt	p.N138S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	138	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.N138S(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCAACCTCAATGGCACATCC	0.647000													52	107					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855382	31855382	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:31855382G>A	ENST00000395728.3	-	14	2153	c.2154C>T	c.(2152-2154)ggC>ggT	p.G718G	EHMT2_ENST00000375530.4_Silent_p.G627G|EHMT2_ENST00000375528.4_Silent_p.G684G|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.G661G			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	661					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCTGCAGCTCGCCCTGCTTCA	0.592000													4	60					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89102315	89102315	+	RNA	SNP	G	G	T	rs335126	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:89102315G>T	ENST00000393525.3	+	0	2789																											GCTTCATCGCGTCACTGCATC	0.378000													3	27					1	1	1	1	0
SHPRH	257218	broad.mit.edu	37	6	146266588	146266588	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:146266588C>A	ENST00000367503.3	-	8	1905	c.1507G>T	c.(1507-1509)Ggt>Tgt	p.G503C	SHPRH_ENST00000367505.2_Missense_Mutation_p.G503C|SHPRH_ENST00000275233.7_Missense_Mutation_p.G503C|SHPRH_ENST00000438092.2_Missense_Mutation_p.G503C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	503	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCAGAAAAACCATGGCCTTTG	0.348000													4	72					2.56e-06	2.77634e-06	1	1	0
OR51Q1	390061	broad.mit.edu	37	11	5444131	5444131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:5444131C>A	ENST00000300778.4	+	1	791	c.701C>A	c.(700-702)gCt>gAt	p.A234D	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A234D(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACCTGGGCTGAGCGACTC	0.483000													128	250					6.74356e-53	8.51236e-53	1	1	0
LIPI	149998	broad.mit.edu	37	21	15561527	15561527	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:15561527C>T	ENST00000344577.2	-	2	348	c.323G>A	c.(322-324)gGc>gAc	p.G108D	LIPI_ENST00000536861.1_Missense_Mutation_p.G87D	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	87					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.G108D(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGGGATGGAGCCTACTGGTCT	0.393000													11	152					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626979	108626979	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:108626979G>A	ENST00000264047.2	+	9	1681	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	SLC5A7_ENST00000540517.1_Missense_Mutation_p.D364N|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D469N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	469					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D469N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTACCCTGATGATAATGGTAT	0.398000													8	108					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72754901	72754901	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:72754901C>T	ENST00000325509.4	-	2	905	c.616G>A	c.(616-618)Gct>Act	p.A206T	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	206					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A206T(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCGATTTAAGCGGTGGTTCCA	0.493000													122	534					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75608822	75608822	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:75608822T>G	ENST00000294638.5	+	6	1073	c.409T>G	c.(409-411)Tct>Gct	p.S137A	LHX8_ENST00000356261.3_Missense_Mutation_p.S127A	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	137	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S137A(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AACTCGCTGCTCTCGATGTGG	0.443000													14	90					0	0	1	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050777	196050777	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:196050777G>T	ENST00000446879.1	-	5	662	c.537C>A	c.(535-537)ttC>ttA	p.F179L	TM4SF19_ENST00000273695.3_Missense_Mutation_p.L181M|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L155M			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane		p.L181M(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CTGATGCACAGAAGGGCGGAG	0.567000													12	66					0.00010058	0.000107565	1	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766598	27766598	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:27766598C>T	ENST00000451261.2	+	5	1985	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.A496V(2)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTGTGTTGGCGTGCAGTGGC	0.473000													63	28					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406296	38406296	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:38406296G>A	ENST00000322350.5	+	7	1127	c.781G>A	c.(781-783)Gat>Aat	p.D261N	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D27N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D261N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	261						cell junction|proteinaceous extracellular matrix|synapse		p.D261N(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGTGAGGATGATGAAGGATT	0.473000													76	118					0	0	1	0	0
SDCBP2	27111	broad.mit.edu	37	20	1298989	1298989	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr20:1298989G>A	ENST00000360779.3	-	4	371	c.198C>T	c.(196-198)agC>agT	p.S66S	SDCBP2_ENST00000339987.3_Silent_p.S66S|SDCBP2_ENST00000381812.1_Silent_p.S66S	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	66					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity	p.S66S(2)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TCTGAAGCAGGCTCTCCTGGA	0.478000													4	78					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617598	77617598	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:77617598C>A	ENST00000521891.2	+	2	1723	c.1275C>A	c.(1273-1275)ctC>ctA	p.L425L	ZFHX4_ENST00000518282.1_Silent_p.L425L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.L425L|ZFHX4_ENST00000050961.6_Silent_p.L425L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L425L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGTCTCCCTCAGCCACTCAT	0.502000										HNSCC(33;0.089)			24	32					7.01153e-11	8.01814e-11	1	1	0
DDX42	11325	broad.mit.edu	37	17	61869884	61869884	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:61869884G>A	ENST00000359353.5	+	0	300				DDX42_ENST00000389924.2_Missense_Mutation_p.D112N|DDX42_ENST00000578681.1_Missense_Mutation_p.D112N|DDX42_ENST00000457800.2_Missense_Mutation_p.D112N|DDX42_ENST00000583590.1_Missense_Mutation_p.D112N			Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.D112N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTGACAGCGATGATGATCC	0.398000													50	207					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131646712	131646712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:131646712G>A	ENST00000368648.3	-	11	1117	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.Q358*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	358					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.Q349*(3)|p.Q358*(3)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCAACCTCTGAAAGCCGTAA	0.468000													18	86					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306641	205306641	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:205306641G>A	ENST00000367156.3	-	9	1755	c.939C>T	c.(937-939)ccC>ccT	p.P313P	KLHDC8A_ENST00000367155.3_Silent_p.P313P|KLHDC8A_ENST00000460687.1_Silent_p.P179P|KLHDC8A_ENST00000539253.1_Silent_p.P313P|KLHDC8A_ENST00000537168.1_Silent_p.P200P	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	313								p.P313P(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCGGGGTGTGGGCATGGCAG	0.592000													9	252					0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3938098	3938098	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:3938098G>A	ENST00000228820.4	-	3	390	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PARP11_ENST00000447133.3_Intron|PARP11_ENST00000427057.2_Intron|PARP11_ENST00000397096.2_Silent_p.F75F	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	75	WWE.						NAD+ ADP-ribosyltransferase activity	p.F75F(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTGTAGCTGAATTTGGAAG	0.358000													8	45					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178402821	178402821	+	Silent	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:178402821A>G	ENST00000264167.4	+	20	2021	c.1875A>G	c.(1873-1875)caA>caG	p.Q625Q	AGPS_ENST00000409888.1_Silent_p.Q156Q	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	625					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.Q625Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TACGGAAGCAATGGCTAAAGG	0.388000													35	219					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88935340	88935340	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:88935340C>A	ENST00000556564.1	-	18	3600	c.3316G>T	c.(3316-3318)Gtc>Ttc	p.V1106F	PTPN21_ENST00000328736.3_Missense_Mutation_p.V1106F	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1106	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.V1106F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCAGTGGACCAACAACGGA	0.498000													8	107					0.411799	0.417217	1	1	0
LATS2	26524	broad.mit.edu	37	13	21557918	21557918	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:21557918G>C	ENST00000382592.4	-	5	2332	c.1927C>G	c.(1927-1929)Cag>Gag	p.Q643E	LATS2_ENST00000542899.1_Missense_Mutation_p.Q643E	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	643					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q643E(4)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTCCGCATCTGCTCCTGCTCA	0.458000													8	37					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113256703	113256703	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:113256703C>T	ENST00000297405.5	-	65	10566	c.10322G>A	c.(10321-10323)gGc>gAc	p.G3441D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3272D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3401D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3371D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3441	Sushi 28.					integral to membrane|plasma membrane		p.G3441D(1)|p.G3401D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGAAGAAGCCAGGCTGACA	0.448000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	395					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587670	37587670	+	Silent	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:37587670T>C	ENST00000378616.3	+	3	1493	c.1290T>C	c.(1288-1290)ccT>ccC	p.P430P	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	430					amino acid transport	integral to membrane	protein binding|transporter activity	p.P430P(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AAACAAGTCCTGAGCCTGGTC	0.473000													10	290					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18937479	18937479	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:18937479C>T	ENST00000377304.4	-	2	589	c.171G>A	c.(169-171)gtG>gtA	p.V57V	RP11-139J15.7_ENST00000606425.1_Silent_p.V45V	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	57							methyltransferase activity|RNA binding	p.V57V(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGTATTCACTCTGACAG	0.338000													29	102					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49048414	49048414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:49048414G>A	ENST00000380950.2	-	20	3218	c.3031C>T	c.(3031-3033)Cag>Tag	p.Q1011*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q918*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q1011*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1011					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.Q1011*(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTCTCCTTCTGAAGAAGTAGT	0.393000													94	185					0	0	1	0	0
RASA4CP	401331	broad.mit.edu	37	7	44076350	44076350	+	RNA	SNP	T	T	C	rs28378571	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:44076350T>C	ENST00000446874.1	-	0	202																											GCTGCCAAAGTTCTTTTCCTC	0.617000													4	27					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219516	133219516	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:133219516T>G	ENST00000320574.5	-	36	4661	c.4618A>C	c.(4618-4620)Aag>Cag	p.K1540Q	POLE_ENST00000535270.1_Missense_Mutation_p.K1513Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1540					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGGCCCACCTTCTCCAGGAGG	0.627000								DNA polymerases (catalytic subunits)					8	13					0	0	1	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348204	77348204	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:77348204A>T	ENST00000561277.1	-	0	311				TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000267970.4_Splice_Site_p.F86_splice|TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000346495.2_Intron|TSPAN3_ENST00000424443.3_Splice_Site_p.F22_splice			O60637	TSN3_HUMAN	tetraspanin 3							integral to membrane		p.F86Y(2)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GATGATGACAAACTGTAAGAA	0.289000													28	65					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30769763	30769763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:30769763C>T	ENST00000282538.5	-	15	1687	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	513					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.E513K(2)|p.E329K(2)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGTCTATCTCATCCAGGAGG	0.537000													85	260					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72295931	72295931	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:72295931T>G	ENST00000579490.1	+	6	1105	c.970T>G	c.(970-972)Tat>Gat	p.Y324D	DNAI2_ENST00000446837.2_Missense_Mutation_p.Y267D|DNAI2_ENST00000307504.5_Missense_Mutation_p.Y124D|DNAI2_ENST00000311014.6_Missense_Mutation_p.Y267D|DNAI2_ENST00000582036.1_Missense_Mutation_p.Y267D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	267					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.Y267D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGACCCTGTGTATGGCACCAT	0.607000									Kartagener syndrome				22	43					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077532	19077532	+	Missense_Mutation	SNP	G	G	A	rs60756581	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:19077532G>A	ENST00000329773.2	-	2	505	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	140					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.R140C(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGGGGCGGCGGCAGCGATAC	0.607000													64	222					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833121	31833121	+	Silent	SNP	C	C	T	rs142009471		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:31833121C>T	ENST00000544672.1	-	17	1799	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	SLC44A4_ENST00000229729.6_Silent_p.A577A|SLC44A4_ENST00000375562.4_Silent_p.A535A	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	577						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A577A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTAGCATGAACGCATTTTTGG	0.562000													24	143					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11941942	11941942	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:11941942C>T	ENST00000339865.5	+	9	1678	c.915C>T	c.(913-915)ttC>ttT	p.F305F	USP47_ENST00000527733.1_Silent_p.F373F|USP47_ENST00000399455.2_Silent_p.F393F|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	393					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.F305F(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGAAAAGATTCGATTTTGATT	0.358000													10	148					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521497	64521497	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:64521497T>A	ENST00000355086.3	+	20	3057	c.2533T>A	c.(2533-2535)Tta>Ata	p.L845I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.L822I|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L782I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	845					axon guidance	cytosol		p.L845I(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGACGGCTATTTAGCCAGGTA	0.597000													19	168					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827175	5827175	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:5827175T>A	ENST00000381095.3	-	4	1358	c.731A>T	c.(730-732)gAc>gTc	p.D244V	NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	244					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.D244F(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTCTTGGGGTCCCCGCCAAA	0.572000													10	38					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658255	72658255	+	RNA	SNP	A	A	G	rs2539089		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:72658255A>G	ENST00000425256.1	-	0	1656					NR_002164.1																						tcagttttgtaacaagcccgt	0.488000													5	42					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91691111	91691111	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:91691111G>T	ENST00000518868.1	+	17	2490	c.1800G>T	c.(1798-1800)ctG>ctT	p.L600L	C14orf159_ENST00000522322.1_Silent_p.L595L|C14orf159_ENST00000523816.1_Silent_p.L595L|C14orf159_ENST00000428926.2_Silent_p.L595L|C14orf159_ENST00000412671.2_Silent_p.L600L|C14orf159_ENST00000523771.1_Silent_p.L595L|C14orf159_ENST00000523576.1_3'UTR|C14orf159_ENST00000521077.2_Silent_p.L560L|C14orf159_ENST00000256324.10_Silent_p.L600L|C14orf159_ENST00000520328.1_Silent_p.L543L|C14orf159_ENST00000525393.2_Silent_p.L471L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	595						mitochondrion		p.L595L(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGATGGGCTGCCCTTCCACA	0.572000													43	18					3.09479e-21	3.70412e-21	1	1	0
PLCB3	5331	broad.mit.edu	37	11	64029532	64029532	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:64029532C>T	ENST00000540288.1	+	17	2125	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L	PLCB3_ENST00000279230.6_Silent_p.L674L|PLCB3_ENST00000325234.5_Silent_p.L607L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	674	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L674L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TTGTTGCGCTCAACTTCCAGA	0.607000													3	17					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962140	34962140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:34962140C>T	ENST00000329357.5	+	1	1228	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	398								p.R398C(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCCCCATCTCCGCCTGGTGCT	0.582000													74	34					0	0	1	0	0
LINC00854	100874261	broad.mit.edu	37	17	41382119	41382119	+	RNA	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:41382119G>C	ENST00000433702.2	-	0	14					NR_047479.1																						ggtgatagctggggaggagcg	0.562000													2	6					0	0	1	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906022	96906022	+	RNA	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:96906022T>C	ENST00000446816.1	+	0	564																											CCCTTCAGAATACATGGACAA	0.418000													8	33					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53576594	53576594	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:53576594A>C	ENST00000355147.5	-	7	848	c.440T>G	c.(439-441)tTc>tGc	p.F147C	ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000418871.1_Intron			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	0					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACAATCTTAGAAGATAGAACC	0.478000													38	76					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757602	99757602	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:99757602G>A	ENST00000360039.4	-	4	1802	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Silent_p.F470F|GAL3ST4_ENST00000426974.2_Silent_p.F408F	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	470					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.F470F(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGTAGGGGGGAACTGCTTGG	0.532000													11	71					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53589517	53589517	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:53589517G>T	ENST00000429604.1	-	4	428	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5K|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5K	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	5					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q5K(2)|p.Q5E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CACTTTACCTGAGTAAGGGCC	0.428000													58	115					1.85257e-25	2.25234e-25	1	1	0
RBM15	64783	broad.mit.edu	37	1	110882847	110882847	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:110882847G>A	ENST00000369784.3	+	1	1720	c.820G>A	c.(820-822)Ggg>Agg	p.G274R	RBM15_ENST00000487146.2_Missense_Mutation_p.G274R|RBM15_ENST00000602849.1_Missense_Mutation_p.G274R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	274					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.G274R(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGTGTGGTCGGGGCCTCTGT	0.597000			T	MKL1	acute megakaryocytic leukemia								8	31					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127599169	127599169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:127599169C>A	ENST00000508053.1	-	69	9114	c.8140G>T	c.(8140-8142)Gag>Tag	p.E2714*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2714*			P35556	FBN2_HUMAN	fibrillin 2	2714	EGF-like 47; 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	p.E2714*(4)		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)		TAGCCCCCCTCCGTGTTAGAG	0.587000													119	80					3.63811e-69	4.6176e-69	1	1	0
KIF2A	3796	broad.mit.edu	37	5	61658358	61658358	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:61658358A>G	ENST00000381103.2	+	13	1534	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	KIF2A_ENST00000401507.3_Missense_Mutation_p.Y370C|KIF2A_ENST00000407818.3_Missense_Mutation_p.Y370C|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.Y324C	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	370	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTGAAATTTATAGTGGAAAG	0.264000													5	3					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22446767	22446767	+	RNA	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:22446767C>G	ENST00000390443.3	+	0	69																											CATCCAGGCTCCTTAAGGGAA	0.517000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039045	11039045	+	RNA	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:11039045G>C	ENST00000470054.1	-	0	1158									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)		AGTCATTTCAGAGTCCATCAA	0.373000													98	1836					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108113084	108113084	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:108113084C>T	ENST00000426128.2	-	10	2049	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	PNPLA8_ENST00000257694.8_Missense_Mutation_p.D704N|PNPLA8_ENST00000436062.1_Missense_Mutation_p.D704N|PNPLA8_ENST00000422087.1_Missense_Mutation_p.D704N|PNPLA8_ENST00000453144.1_Missense_Mutation_p.D604N|PNPLA8_ENST00000388728.5_Missense_Mutation_p.D642N	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	704					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	p.D704N(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AAATAGGTGTCAGGAGGTAAC	0.378000													5	105					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71701932	71701932	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:71701932G>C	ENST00000254799.6	-	2	574	c.457C>G	c.(457-459)Cga>Gga	p.R153G	GRSF1_ENST00000502323.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000545193.1_Missense_Mutation_p.R35G|GRSF1_ENST00000439371.1_5'UTR	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	153	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.R153G(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			CCTTGAGCTCGAATGAGAAAG	0.398000													4	39					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113505180	113505180	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:113505180A>C	ENST00000273398.3	+	6	774	c.666A>C	c.(664-666)ccA>ccC	p.P222P	ATP6V1A_ENST00000538620.1_Silent_p.P189P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	222					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.P222P(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAGCTGCCAGCCAATCATC	0.463000													80	475					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85577259	85577259	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:85577259G>A	ENST00000295802.4	-	4	815	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	RETSAT_ENST00000263854.6_Missense_Mutation_p.L235F|RETSAT_ENST00000457495.2_Missense_Mutation_p.L174F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	235					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.L235F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GATGCTTGAAGGAATGGAGAG	0.587000													4	55					0	0	1	0	0
HHEX	3087	broad.mit.edu	37	10	94452138	94452138	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:94452138C>G	ENST00000282728.5	+	2	2174	c.375C>G	c.(373-375)ctC>ctG	p.L125L	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	125	Pro-rich.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	p.L125L(2)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AACCTCTACTCTGGAGCCCCT	0.617000													6	7					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967651	106967651	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:106967651G>T	ENST00000369066.3	+	2	1831	c.1344G>T	c.(1342-1344)caG>caT	p.Q448H		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	448							sugar binding	p.Q448H(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAAAGCCACAGCATACATTTT	0.502000													5	62					0.014758	0.0152192	1	1	0
GPR152	390212	broad.mit.edu	37	11	67219321	67219321	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:67219321G>T	ENST00000312457.2	-	1	879	c.875C>A	c.(874-876)cCc>cAc	p.P292H		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	292						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P292H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCAGAGGAAGGGGCTGAGGCA	0.652000													9	15					2.17888e-05	2.35197e-05	1	1	0
VCAN	1462	broad.mit.edu	37	5	82816704	82816704	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:82816704G>A	ENST00000265077.3	+	7	3144	c.2579G>A	c.(2578-2580)aGt>aAt	p.S860N	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S812N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S860N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	860	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.S860I(1)|p.S860N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTCCAGATAGTACTCAAAAG	0.413000													9	186					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27426971	27426971	+	Missense_Mutation	SNP	C	C	T	rs140504210	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:27426971C>T	ENST00000263980.3	-	12	2850	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.D420N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	759					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.D759N(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ATGCCCCCATCGTCGTCCTCG	0.602000													7	63					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626185	48626185	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:48626185G>C	ENST00000328333.8	-	19	2584	c.2477C>G	c.(2476-2478)aCa>aGa	p.T826R	COL7A1_ENST00000454817.1_Missense_Mutation_p.T826R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	826	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCAGAGTCTGTGTTTCCTGG	0.607000													7	6					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617600	77617600	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:77617600G>A	ENST00000521891.2	+	2	1725	c.1277G>A	c.(1276-1278)aGc>aAc	p.S426N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S426N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S426N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S426N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	426						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S426N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTCTCCCTCAGCCACTCATCG	0.502000										HNSCC(33;0.089)			25	33					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812634	49812634	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:49812634A>C	ENST00000454748.3	-	6	1112	c.911T>G	c.(910-912)aTc>aGc	p.I304S	SLC6A16_ENST00000335875.4_Missense_Mutation_p.I304S			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	304						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.I304S(2)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ACCGACAATGATGAAACAGGG	0.493000													31	179					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57099793	57099793	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:57099793C>T	ENST00000261556.6	+	13	1750	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	TMEM260_ENST00000536419.1_Missense_Mutation_p.S77F|TMEM260_ENST00000538838.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		CCATGGGGGTCTTGTGACAAA	0.368000													13	43					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36112407	36112407	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:36112407A>T	ENST00000377966.3	+	16	2560	c.1994A>T	c.(1993-1995)cAg>cTg	p.Q665L		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	665	Kazal-like 1.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	p.Q665L(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAGACCATCAGTTTGAGTTT	0.463000													87	78					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944871	117944871	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:117944871A>C	ENST00000356554.3	+	2	1101	c.366A>C	c.(364-366)gcA>gcC	p.A122A	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	122					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A122A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGGAAGAAGCAAAAGAAAAAT	0.373000													24	100					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881693	26881693	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:26881693T>C	ENST00000231021.4	-	12	2094	c.1922A>G	c.(1921-1923)aAa>aGa	p.K641R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K641R(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGTTCCTTTTTTCTTTGCCT	0.388000													47	119					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266387	85266387	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:85266387T>A	ENST00000266682.5	-	8	1837	c.1296A>T	c.(1294-1296)ctA>ctT	p.L432L	SLC6A15_ENST00000552192.1_Silent_p.L325L|SLC6A15_ENST00000309283.7_Silent_p.L140L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	432					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.L432L(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TAACTTTATTTAGCTCTTCTT	0.328000													11	65					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51440599	51440599	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:51440599C>A	ENST00000335891.5	-	16	3105	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1481					interspecies interaction between organisms	cytoplasm|nucleus	protein binding	p.E1485D(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCAGTTCCACCTCCTCATCTG	0.527000													27	36					1.414e-09	1.5856e-09	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54305729	54305729	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:54305729G>A	ENST00000545554.1	+	1	629	c.629G>A	c.(628-630)aGa>aAa	p.R210K	UNC13C_ENST00000537900.1_Missense_Mutation_p.R210K|UNC13C_ENST00000260323.11_Missense_Mutation_p.R210K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	210					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R210K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGGAATAAGAAGTAAGTCT	0.438000													46	296					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:204948557C>A	ENST00000367172.4	+	19	2374	c.2046C>A	c.(2044-2046)ccC>ccA	p.P682P	NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000513543.1_Silent_p.P678P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000404907.1_Silent_p.P678P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572000													38	101					5.04308e-16	5.91346e-16	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10600446	10600446	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:10600446C>T	ENST00000171111.5	-	4	1956	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470H	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATAAAGGAGACGATTGAGGAC	0.562000													9	11					0	0	1	0	0
ISCU	23479	broad.mit.edu	37	12	108957910	108957910	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:108957910G>T	ENST00000338291.4	+	2	206	c.18G>T	c.(16-18)atG>atT	p.M6I	ISCU_ENST00000539593.1_Intron|ISCU_ENST00000547005.1_Intron|ISCU_ENST00000392807.4_Missense_Mutation_p.M6I|ISCU_ENST00000535729.1_Intron|ISCU_ENST00000311893.9_Intron|ISCU_ENST00000431221.2_Intron			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	0					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	p.M6I(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TCATTGACATGAGTGTAGACC	0.403000													27	147					1.56738e-10	1.78357e-10	1	1	0
ZNF283	284349	broad.mit.edu	37	19	44351558	44351558	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:44351558G>C	ENST00000324461.7	+	7	1102	c.805G>C	c.(805-807)Ggg>Cgg	p.G269R	ZNF283_ENST00000588797.1_Missense_Mutation_p.G130R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G269R(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TAAGGAATGTGGGAAGACCTT	0.403000													22	147					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75756265	75756265	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:75756265G>A	ENST00000260113.2	+	3	502	c.323G>A	c.(322-324)tGc>tAc	p.C108Y	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.C108Y	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	108						extracellular region	peptidase inhibitor activity	p.C108Y(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GCGGCTACTTGCATTTGGGAC	0.428000													58	213					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													5	29					0.000602214	0.000635212	1	1	0
FANCM	57697	broad.mit.edu	37	14	45606340	45606340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:45606340G>T	ENST00000267430.5	+	2	662	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	FANCM_ENST00000542564.2_Missense_Mutation_p.V193F|FANCM_ENST00000556036.1_Missense_Mutation_p.V193F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	193	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.V193F(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TACACCTCAGGTCATGGTAAA	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	505					3.08376e-08	3.42476e-08	1	1	0
TEX33	339669	broad.mit.edu	37	22	37387544	37387544	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr22:37387544A>T	ENST00000405091.2	-	6	974	c.723T>A	c.(721-723)caT>caA	p.H241Q	TEX33_ENST00000381821.1_Missense_Mutation_p.H241Q|TEX33_ENST00000402860.3_Missense_Mutation_p.H156Q			O43247	EAN57_HUMAN	testis expressed 33	241								p.H156Q(2)									TCTTCCTGCCATGCCAGTGTT	0.542000													158	234					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553584	140553584	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:140553584C>T	ENST00000231137.3	+	1	1342	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P390S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGATGTCCCCTTCATCCT	0.473000													18	20					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38205058	38205058	+	Missense_Mutation	SNP	C	C	T	rs142206759		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:38205058C>T	ENST00000317025.8	-	2	1149	c.632G>A	c.(631-633)cGc>cAc	p.R211H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R211H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R211H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R211H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	211					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	p.R211H(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTGTGACTTGCGCTCTTCAGA	0.353000			T	NUP98	AML								81	334					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122748723	122748723	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:122748723T>A	ENST00000267199.4	-	2	238	c.126A>T	c.(124-126)ctA>ctT	p.L42L	VPS33A_ENST00000451053.2_Silent_p.L42L|VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	42					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.L42L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGGTCCAGTTAGGTATTCAT	0.343000													30	118					0	0	1	0	0
CENPN	55839	broad.mit.edu	37	16	81050942	81050942	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:81050942C>G	ENST00000305850.5	+	4	1019	c.229C>G	c.(229-231)Cat>Gat	p.H77D	CENPN_ENST00000569461.1_Intron|CENPN_ENST00000428963.2_Missense_Mutation_p.H77D|CENPN_ENST00000393335.3_Missense_Mutation_p.H77D|CENPN_ENST00000439957.3_Intron|RP11-303E16.3_ENST00000562315.1_RNA|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000299572.5_Missense_Mutation_p.H77D	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	77					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.H77D(3)		breast(1)|large_intestine(5)|lung(4)	10						TATGCAATTTCATCAGCACCA	0.333000													46	81					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967174	52967174	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:52967174C>T	ENST00000549343.1	-	1	426	c.388G>A	c.(388-390)Gac>Aac	p.D130N	KRT74_ENST00000305620.2_Missense_Mutation_p.D130N			Q7RTS7	K2C74_HUMAN	keratin 74	130	Head.					keratin filament	structural molecule activity	p.D130N(2)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATCTCAGGGTCCAGCTCCACG	0.602000													15	111					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518680	93518680	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:93518680C>T	ENST00000377067.3	+	8	2079	c.1707C>T	c.(1705-1707)ccC>ccT	p.P569P		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	569						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P569P(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTTACTTCCCGGGATTTGGT	0.433000													153	388					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58011792	58011792	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:58011792G>A	ENST00000290871.5	+	2	274	c.237G>A	c.(235-237)ctG>ctA	p.L79L	TEPP_ENST00000441824.2_Silent_p.L79L|TEPP_ENST00000569996.1_Intron	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	79						extracellular region		p.L79L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CGGCCATCCTGCTTCCCATGG	0.657000													37	95					0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67338379	67338379	+	Silent	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:67338379T>C	ENST00000304372.5	-	3	451	c.396A>G	c.(394-396)acA>acG	p.T132T	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	132						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T132T(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACACTTCCATGTACGCCAGT	0.478000													125	188					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631628	101631628	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:101631628G>A	ENST00000310954.6	-	1	625	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	113					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.L113L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGACGGCCAAGAGGCAGTAGT	0.632000													14	12					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70687463	70687463	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:70687463G>C	ENST00000370950.3	+	2	226	c.144G>C	c.(142-144)caG>caC	p.Q48H	SRSF11_ENST00000405432.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000370951.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000436161.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000454435.2_Missense_Mutation_p.Q48H			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	48	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.Q48H(2)		large_intestine(3)|ovary(2)|skin(1)	6						GCTCTGAGCAGATGCGGACTC	0.647000													57	41					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85577260	85577260	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:85577260G>A	ENST00000295802.4	-	4	814	c.702C>T	c.(700-702)ttC>ttT	p.F234F	RETSAT_ENST00000263854.6_Silent_p.F234F|RETSAT_ENST00000457495.2_Silent_p.F173F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	234					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.L235F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATGCTTGAAGGAATGGAGAGA	0.582000													4	54					0	0	1	0	0
HHEX	3087	broad.mit.edu	37	10	94452163	94452163	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:94452163C>G	ENST00000282728.5	+	2	2199	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	134					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	p.L134V(1)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						GCAGAGGCCTCTGCATAAAAG	0.602000													5	5					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072821	17072821	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr22:17072821G>T	ENST00000359963.3	-	1	879	c.620C>A	c.(619-621)gCg>gAg	p.A207E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207G(1)|p.A207V(1)|p.A207E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGGCAGCGCGCACACCCC	0.617000													9	44					0.00621372	0.00646562	1	1	0
PCNT	5116	broad.mit.edu	37	21	47783764	47783764	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:47783764G>C	ENST00000359568.5	+	14	2631	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	842					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E842*(1)|p.E842K(1)|p.E842Q(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)					GTGTGGGCGGGAGCCGCCCAC	0.662000													19	26					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328774	88328774	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:88328774G>T	ENST00000325089.6	+	2	1350	c.1131G>T	c.(1129-1131)gcG>gcT	p.A377A	SLITRK5_ENST00000400028.3_Silent_p.A136A	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	377	LRRNT.					integral to membrane		p.A377A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTCCCACCGCGTGCTCTTGCA	0.577000													11	23					1.52009e-12	1.75571e-12	1	1	0
RIN3	79890	broad.mit.edu	37	14	93118640	93118640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:93118640C>T	ENST00000216487.7	+	6	1405	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	416	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.Q416*(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTGCCTCCCCAAGGGACCTC	0.657000													3	11					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280019	73280019	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:73280019C>T	ENST00000320531.2	+	3	650	c.614C>T	c.(613-615)aCc>aTc	p.T205I		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	205						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TATCTCATCACCTGGACCACC	0.617000													5	108					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56999683	56999683	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:56999683C>T	ENST00000179765.5	-	14	2533	c.2334G>A	c.(2332-2334)cgG>cgA	p.R778R	BAZ2A_ENST00000379441.3_Silent_p.R780R|BAZ2A_ENST00000551812.1_Silent_p.R810R|BAZ2A_ENST00000549884.1_Silent_p.R808R			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	810	Lys-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.R810R(4)|p.R846R(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCTGCCTCTGCCGTTCCTCCA	0.517000													16	13					0	0	1	0	0
IFNL3	282617	broad.mit.edu	37	19	39734751	39734751	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:39734751A>G	ENST00000413851.2	-	3	343	c.305T>C	c.(304-306)cTg>cCg	p.L102P		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L102P(1)									CAGAACCTTCAGCGTCAGGGC	0.652000													18	40					0	0	1	0	0
FAM43A	131583	broad.mit.edu	37	3	194407563	194407563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:194407563C>T	ENST00000329759.4	+	1	942	c.8C>T	c.(7-9)cCg>cTg	p.P3L		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	3								p.P3L(1)		breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GAGATGCTGCCGTGGAAGAAG	0.761000													4	4					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18456297	18456297	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:18456297G>C	ENST00000541669.1	+	5	540	c.429G>C	c.(427-429)ttG>ttC	p.L143F	LDHC_ENST00000280704.4_Missense_Mutation_p.L143F|LDHC_ENST00000544105.1_Missense_Mutation_p.L143F|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Missense_Mutation_p.L143F|LDHC_ENST00000536880.1_Missense_Mutation_p.L129F|LDHC_ENST00000546146.1_Missense_Mutation_p.L85F			P07864	LDHC_HUMAN	lactate dehydrogenase C	143					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L143F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TGGATATTTTGACATATATAG	0.308000													38	237					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247123	77247123	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:77247123G>C	ENST00000388914.3	-	22	3196	c.3044C>G	c.(3043-3045)tCt>tGt	p.S1015C		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1015	Ser-rich.							p.S1015C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCTTAGGAGAAGAATTGAA	0.358000													107	450					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47892633	47892633	+	Silent	SNP	T	T	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:47892633T>G	ENST00000507489.1	-	12	1716	c.1540A>C	c.(1540-1542)Aga>Cga	p.R514R	NFXL1_ENST00000381538.3_Silent_p.R514R|NFXL1_ENST00000329043.3_Silent_p.R514R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	514						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R514R(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTTTACCTCTGTGACAGACA	0.348000													49	122					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227946805	227946805	+	Missense_Mutation	SNP	C	C	T	rs143092410	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:227946805C>T	ENST00000366759.4	+	3	1156	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	SNAP47_ENST00000366760.1_Missense_Mutation_p.P6S|SNAP47_ENST00000315781.5_Missense_Mutation_p.P248S	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	248						endomembrane system|membrane|perinuclear region of cytoplasm		p.P248S(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CAGTTGTGAACCCTTTGGGAA	0.493000													4	78					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17612097	17612097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:17612097C>A	ENST00000252595.7	+	11	1749	c.1652C>A	c.(1651-1653)gCa>gAa	p.A551E	SLC27A1_ENST00000442725.1_Missense_Mutation_p.A551E|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A372E|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	551					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	p.A551E(4)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAGGGTAAGGCAGGGATGGCG	0.642000													10	7					0.000978159	0.00102707	1	1	0
DCST1	149095	broad.mit.edu	37	1	155015885	155015885	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:155015885G>A	ENST00000295542.1	+	10	1168	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	DCST1_ENST00000368419.2_Missense_Mutation_p.E358K|DCST1_ENST00000392480.1_Missense_Mutation_p.E358K|DCST1_ENST00000423025.2_Missense_Mutation_p.E333K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	358						integral to membrane	zinc ion binding	p.E358K(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	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)			CGTGAGCACCGAGGTGCGGGA	0.667000													17	60					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372586	180372586	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:180372586C>A	ENST00000273654.4	-	13	1765	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H	CCDC39_ENST00000442201.2_Missense_Mutation_p.Q298H			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	298					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.Q298H(2)|p.Q382H(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTCATGGTCCTGATATGCCG	0.343000													38	90					1.07234e-20	1.27686e-20	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103364245	103364245	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:103364245G>A	ENST00000358392.2	-	56	4578	c.4261C>T	c.(4261-4263)Ctt>Ttt	p.L1421F	COL11A1_ENST00000512756.1_Missense_Mutation_p.L1293F|COL11A1_ENST00000370096.3_Missense_Mutation_p.L1409F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1370F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1409	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.L1409F(2)|p.L1421F(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGCCCCGAAGACCTTCTGGA	0.453000													17	59					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632679	33632679	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:33632679C>A	ENST00000374316.5	+	13	2241	c.1181C>A	c.(1180-1182)aCc>aAc	p.T394N	ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	394	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.T394N(4)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACCTCTGCACCAACACGTGG	0.662000													11	39					0.0242445	0.024891	1	1	0
GALNT11	63917	broad.mit.edu	37	7	151818708	151818708	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:151818708C>T	ENST00000434507.1	+	14	2210	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V	GALNT11_ENST00000320311.2_Silent_p.V591V|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Silent_p.V510V|GALNT11_ENST00000430044.2_Silent_p.V591V			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	591	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V591V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGGGCTCTGTCGCCATGGCGA	0.532000													14	55					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5219402	5219402	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:5219402T>C	ENST00000372412.4	-	23	4078	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	PTPRS_ENST00000357368.4_Missense_Mutation_p.E1281G|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1281G|PTPRS_ENST00000592099.1_Missense_Mutation_p.E850G|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1277G|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1259G|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1259G|PTPRS_ENST00000353284.2_Missense_Mutation_p.E850G			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1281					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GATAAGCCCCTCCTCGCCATC	0.587000													4	21					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969183	5969183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:5969183C>A	ENST00000329564.6	+	1	614	c.607C>A	c.(607-609)Caa>Aaa	p.Q203K		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q203K(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTTTACCAATTTGCTGG	0.478000													45	392					2.81731e-22	3.40732e-22	1	1	0
MSH2	4436	broad.mit.edu	37	2	47709956	47709956	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:47709956G>C	ENST00000233146.2	+	16	2896	c.2673G>C	c.(2671-2673)gtG>gtC	p.V891V	MSH2_ENST00000461394.1_Intron|MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Silent_p.V825V	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	891					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.V891V(2)|p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTCCAAGGTGAAACAAATGC	0.313000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				12	37					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298118	62298118	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:62298118C>A	ENST00000378024.4	-	5	4045	c.3771G>T	c.(3769-3771)atG>atT	p.M1257I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1257					nervous system development	nucleus	protein binding	p.M1257I(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATTTTCATCTTGGGCA	0.512000													11	358					6.40141e-05	6.87779e-05	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503320	140503320	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:140503320G>A	ENST00000194152.1	+	1	1740	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		580	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.E580E(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGGCCGAGCCGGGCTACC	0.697000													5	12					0	0	1	0	0
ID3	3399	broad.mit.edu	37	1	23885762	23885762	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:23885762C>T	ENST00000374561.5	-	1	523	c.156G>A	c.(154-156)cgG>cgA	p.R52R	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	52	Helix-loop-helix motif.				negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	p.R52R(2)		central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GTACCAGTTCCCGCAGGCGGG	0.642000													10	25					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733114	152733114	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:152733114C>G	ENST00000368773.1	+	2	1108	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	KPRP_ENST00000606109.1_Missense_Mutation_p.I350M	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	350	Pro-rich.					cytoplasm		p.I350M(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCCATCAGACGCCGCT	0.652000													11	50					0	0	1	0	0
CES1P1	51716	broad.mit.edu	37	16	55806422	55806422	+	RNA	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:55806422T>A	ENST00000571348.1	+	0	724					NR_003276.2																						GAGGAGAAAGTGTCTCTGTTC	0.557000													14	34					0	0	1	0	0
PIGM	93183	broad.mit.edu	37	1	160001137	160001137	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:160001137C>G	ENST00000368090.2	-	1	646	c.393G>C	c.(391-393)tgG>tgC	p.W131C		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	131					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.W131C(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTAAGAAGCCAAAAGACAC	0.562000													29	149					0	0	1	0	0
TSSK3	81629	broad.mit.edu	37	1	32829545	32829545	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:32829545G>C	ENST00000373534.3	+	2	1000	c.495G>C	c.(493-495)ctG>ctC	p.L165L	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	165	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L165L(2)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACCGGGAGCTGAGCCAGACCT	0.572000													33	78					0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227472	56227472	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr20:56227472G>A	ENST00000341744.3	-	4	820	c.501C>T	c.(499-501)ctC>ctT	p.L167L	PMEPA1_ENST00000265626.4_Silent_p.L117L|PMEPA1_ENST00000395814.1_Silent_p.L117L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000347215.4_Silent_p.L132L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	167					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.L167L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCGAAGCTGGAGGGTGCAGG	0.642000													5	48					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942315	144942315	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:144942315C>T	ENST00000525985.1	-	2	5178	c.5107G>A	c.(5107-5109)Gtg>Atg	p.V1703M				P58107	EPIPL_HUMAN	epiplakin 1	1703						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGTAGGCCACGTCCACGGGC	0.677000													3	10					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627094	170627094	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:170627094C>G	ENST00000476287.1	+	2	724	c.616C>G	c.(616-618)Ctc>Gtc	p.L206V	FAM120B_ENST00000540480.1_Missense_Mutation_p.L218V|FAM120B_ENST00000537664.1_Missense_Mutation_p.L229V|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	206					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.L206V(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CACCGTCATGCTCTGCAGAGA	0.527000													10	81					0	0	1	0	0
SAP30BP	29115	broad.mit.edu	37	17	73689542	73689542	+	Missense_Mutation	SNP	G	G	C	rs150596591	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:73689542G>C	ENST00000584667.1	+	4	544	c.287G>C	c.(286-288)cGa>cCa	p.R96P	SAP30BP_ENST00000355423.3_Missense_Mutation_p.R80P|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	96					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.R96P(2)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGAAAAGCGAGACCCCCAG	0.552000													11	53					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705580	101705580	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:101705580G>T	ENST00000305352.6	+	2	1415	c.1040G>T	c.(1039-1041)gGc>gTc	p.G347V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	347					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.G347V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ATCATCGCCGGCATGGAATTC	0.552000													33	129					1.99505e-19	2.36337e-19	1	1	0
INTS2	57508	broad.mit.edu	37	17	59988888	59988888	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:59988888C>G	ENST00000444766.3	-	7	1046	c.971G>C	c.(970-972)gGa>gCa	p.G324A	INTS2_ENST00000251334.6_Missense_Mutation_p.G316A	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	324					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.G324A(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CACCTGCTGTCCATTTCGGAT	0.388000													44	77					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42831602	42831602	+	Splice_Site	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr20:42831602C>A	ENST00000372970.2	-	5	370	c.191_splice	c.e5+1	p.G64_splice	OSER1_ENST00000255174.2_Splice_Site_p.G64_splice					oxidative stress responsive serine-rich 1									p.G64W(2)									AGCTCTTACCCGTGCCAACTG	0.383000													48	133					3.16986e-14	3.69817e-14	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75981976	75981976	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:75981976C>T	ENST00000308508.5	-	3	1522	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	477	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).			RH -> HY (in Ref. 1; CAA65529).	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.R477H(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTCGCCATGGCGTGCCCCTCG	0.637000													3	22					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100179736	100179736	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:100179736G>T	ENST00000310300.6	-	3	472	c.420C>A	c.(418-420)gtC>gtA	p.V140V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	140					nervous system development	PML body	protein binding	p.V140V(2)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGATGAGGACCCTCAGGG	0.637000													7	12					1.26484e-09	1.42526e-09	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119345909	119345909	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:119345909C>T	ENST00000338891.7	-	2	672	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.E77K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_5'UTR|FAM184A_ENST00000368475.4_5'UTR	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	77								p.E77K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTTCTTCTTCATGAGCATCT	0.338000													43	23					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43225669	43225669	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:43225669C>T	ENST00000259750.4	+	10	1064	c.981C>T	c.(979-981)ccC>ccT	p.P327P	TTBK1_ENST00000304139.5_Silent_p.P276P	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	327						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.P327P(1)		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)			CTACCCCGCCCCAGCAGAACA	0.627000													22	11					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969302	118969302	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:118969302C>A	ENST00000334549.1	+	3	647	c.647C>A	c.(646-648)aCa>aAa	p.T216K		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	216						integral to membrane|plasma membrane		p.T216K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAACTTGGCACATGTCCTTCA	0.527000													14	42					7.05477e-17	8.31455e-17	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108380461	108380461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:108380461C>T	ENST00000265843.4	-	6	5883	c.5773G>A	c.(5773-5775)Gat>Aat	p.D1925N	EXPH5_ENST00000428840.1_Missense_Mutation_p.D1849N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D1918N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1737N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1925					intracellular protein transport		Rab GTPase binding	p.D1925N(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCTCAAATCATCTTTTAGG	0.408000													20	55					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134066	233134066	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:233134066T>C	ENST00000258229.8	-	32	5956	c.5722A>G	c.(5722-5724)Agc>Ggc	p.S1908G	PCNXL2_ENST00000344698.2_Missense_Mutation_p.S560G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1908						integral to membrane		p.S1908G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGTTCTGCGCTGCTCTCCTGG	0.632000													6	43					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154332	22154332	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:22154332G>T	ENST00000397126.4	-	4	3652	c.3504C>A	c.(3502-3504)ccC>ccA	p.P1168P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P1040P(4)|p.P1168P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTA	0.363000													29	32					7.16026e-08	7.91397e-08	1	1	0
OR4C11	219429	broad.mit.edu	37	11	55371624	55371624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:55371624C>A	ENST00000302231.4	-	1	250	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A76S(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATCTAGGGGCTGTGGAAGTT	0.398000													97	48					8.62921e-31	1.06596e-30	1	1	0
LSMD1	84316	broad.mit.edu	37	17	7760666	7760666	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:7760666T>A	ENST00000333775.5	-	1	506	c.76A>T	c.(76-78)Agt>Tgt	p.S26C	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000335155.5_Intron	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	0						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GCTGCTTGACTGCCCCTCAGT	0.652000													5	7					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431299	140431299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:140431299G>C	ENST00000306549.3	+	1	321	c.244G>C	c.(244-246)Gga>Cga	p.G82R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		82	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G82R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCAAGACGGGAGATTTGTT	0.572000													24	81					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46913983	46913983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:46913983C>T	ENST00000218343.4	+	9	1694	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	PHF16_ENST00000397189.1_Missense_Mutation_p.H466Y	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		466					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.H466Y(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGAAAGCATTCACACTCGAAT	0.453000													27	24					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083381	171083381	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:171083381A>C	ENST00000367755.4	+	7	1173	c.1062A>C	c.(1060-1062)aaA>aaC	p.K354N	FMO3_ENST00000538429.1_Missense_Mutation_p.K291N|FMO3_ENST00000542847.1_Missense_Mutation_p.K334N|FMO3_ENST00000392085.2_Missense_Mutation_p.K354N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	354					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.K354N(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTTATTTAAAGGAGTATTTC	0.443000													65	189					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827176	5827176	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:5827176C>A	ENST00000381095.3	-	4	1357	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264Y|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244Y	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	244					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.D244F(1)|p.D244Y(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTCTTGGGGTCCCCGCCAAAG	0.567000													10	37					5.16669e-11	5.93783e-11	1	1	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622174	74622174	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:74622174G>A	ENST00000156626.7	-	7	1618	c.1419C>T	c.(1417-1419)caC>caT	p.H473H		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	473					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.H473H(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CCTGGGGTCTGTGCCTGTGGT	0.547000													44	119					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678562	186678562	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:186678562G>C	ENST00000343098.5	+	18	20385	c.20385G>C	c.(20383-20385)acG>acC	p.T6795T	FSIP2_ENST00000424728.1_Silent_p.T6706T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.T1404T(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CACTAAGCACGAGCAGCCTGA	0.358000													57	57					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6189291	6189291	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:6189291C>T	ENST00000306177.5	+	13	1622	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	488					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S616S(1)|p.S488S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACGGGAATTCCAGTGTCAACA	0.463000													43	111					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367007	367007	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:367007G>A	ENST00000240499.7	+	4	930	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	261					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.G261S(2)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGAAGAATGTGGCAAAGCCTT	0.368000													70	79					0	0	1	0	0
SAA2	6289	broad.mit.edu	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.K102E					serum amyloid A2									p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572000													7	105					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451720	55451720	+	Missense_Mutation	SNP	C	C	T	rs61746625	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:55451720C>T	ENST00000588756.1	-	6	953	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	NLRP7_ENST00000448121.2_Missense_Mutation_p.R156Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.R156Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.R156Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.R156Q|NLRP7_ENST00000590030.1_Missense_Mutation_p.R156Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.R184Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	156							ATP binding	p.R156Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAATGAACCGTTGGTTTCT	0.502000													10	320					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092797	53092797	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:53092797C>T	ENST00000276480.7	-	9	845	c.162G>A	c.(160-162)agG>agA	p.R54R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	54						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)				GCAGGGATTTCCTTTTGTTGA	0.488000													8	133					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049473	175049473	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:175049473G>T	ENST00000239462.4	+	4	1072	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	320	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G320V(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGATTCTTGGTTTGCTGCCT	0.537000													13	54					0.000308642	0.000327047	1	1	0
SOX7	83595	broad.mit.edu	37	8	10583367	10583367	+	Missense_Mutation	SNP	C	C	A	rs147348948	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:10583367C>A	ENST00000304501.1	-	2	1126	c.1048G>T	c.(1048-1050)Gcc>Tcc	p.A350S	SOX7_ENST00000553390.1_Missense_Mutation_p.A402S|SOX7_ENST00000554914.1_Missense_Mutation_p.A402S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	350	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCACTGAGGGCCATGGCCCCT	0.597000													3	30					0.115264	0.117814	1	1	0
MROH7	374977	broad.mit.edu	37	1	55175634	55175634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:55175634G>A	ENST00000421030.2	+	24	4031	c.3746G>A	c.(3745-3747)aGa>aAa	p.R1249K	MROH7_ENST00000409996.1_Missense_Mutation_p.R817K|MROH7_ENST00000454855.2_Missense_Mutation_p.R767K|MROH7_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553.2			maestro heat-like repeat family member 7									p.R1246K(2)|p.R1249K(2)									GATAACTTGAGACATGACCCA	0.572000													19	93					0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541963	44541963	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:44541963G>A	ENST00000436261.1	-	4	466	c.306C>T	c.(304-306)ccC>ccT	p.P102P	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	102					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P102P(4)|p.P52P(2)		endometrium(2)|kidney(1)|lung(5)	8						CTTCATTTGAGGGTTGTCCTT	0.408000													20	19					0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65152098	65152098	+	Silent	SNP	C	C	T	rs28503503		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:65152098C>T	ENST00000323544.4	+	4	413	c.285C>T	c.(283-285)agC>agT	p.S95S	AC069368.3_ENST00000437723.1_Silent_p.S95S	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	95	PH.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACAGGTCAGCGACATCAAAT	0.483000													11	291					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64045267	64045267	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:64045267C>A	ENST00000443617.2	-	8	1879	c.1792G>T	c.(1792-1794)Gat>Tat	p.D598Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	598					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.D598Y(4)		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						CTGTTGGTATCACCATGACCA	0.343000													18	79					0.006122	0.00639902	1	1	0
MYH2	4620	broad.mit.edu	37	17	10429161	10429161	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:10429161T>A	ENST00000245503.5	-	31	4604	c.4220A>T	c.(4219-4221)gAg>gTg	p.E1407V	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1407V|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1407					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACATGTTCCTCAGCTGCCTG	0.483000													4	79					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35042966	35042966	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:35042966C>A	ENST00000312292.5	+	2	387	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	C9orf131_ENST00000421362.2_Missense_Mutation_p.L66M|C9orf131_ENST00000354479.5_Missense_Mutation_p.L41M	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	114								p.L114M(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			cgaggCATCTCTGGATCCACT	0.557000													58	55					9.40535e-28	1.14954e-27	1	1	0
SHKBP1	92799	broad.mit.edu	37	19	41086690	41086690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:41086690G>T	ENST00000291842.5	+	9	741	c.692G>T	c.(691-693)aGc>aTc	p.S231I	SHKBP1_ENST00000600733.1_Missense_Mutation_p.S231I	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	231						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S231I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGTTTTCCAGCCCCCGCCTG	0.632000													30	62					1.49673e-21	1.80076e-21	1	1	0
ATMIN	23300	broad.mit.edu	37	16	81069732	81069732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:81069732G>T	ENST00000299575.4	+	1	281	c.257G>T	c.(256-258)tGc>tTc	p.C86F		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	86					response to DNA damage stimulus	nucleus	zinc ion binding	p.C86F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AACATCCTGTGCACCGTGCGC	0.736000													3	8					0.00909568	0.00942198	1	1	0
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:7578433G>C	ENST00000420246.2	-	5	629	c.497C>G	c.(496-498)tCa>tGa	p.S166*	TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTGCTGTGACTGCTTGTA	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			74	77					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277527	186277527	+	Silent	SNP	T	T	C	rs75928540	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:186277527T>C	ENST00000445192.2	+	7	2721	c.2676T>C	c.(2674-2676)agT>agC	p.S892S	PRG4_ENST00000367485.4_Silent_p.S799S|PRG4_ENST00000367484.3_Silent_p.S421S|PRG4_ENST00000367483.4_Silent_p.S851S|PRG4_ENST00000367486.3_Silent_p.S849S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	892					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.S892S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTGAAAACAGTCCCAAGGAAC	0.458000													4	40					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86311732	86311732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:86311732G>T	ENST00000337975.5	-	2	1584	c.1310C>A	c.(1309-1311)gCc>gAc	p.A437D	KLHL25_ENST00000536947.1_Missense_Mutation_p.A437D|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	437						cytoplasm		p.A437D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACCACTGCGGCATTGCTGAC	0.587000													11	55					7.93312e-07	8.68508e-07	1	1	0
MED1	5469	broad.mit.edu	37	17	37564674	37564674	+	Missense_Mutation	SNP	G	G	A	rs138417070	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:37564674G>A	ENST00000300651.6	-	17	4023	c.3800C>T	c.(3799-3801)aCg>aTg	p.T1267M	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1267	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.T1267M(2)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGAAGATGCCGTACAGGAATT	0.478000										HNSCC(31;0.082)			5	84					0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1920356	1920356	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:1920356C>T	ENST00000434971.2	-	3	156	c.124G>A	c.(124-126)Gag>Aag	p.E42K				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	0								p.E42K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGTCATCCTCAGCTTCCTGT	0.532000													3	23					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128366435	128366435	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:128366435G>A	ENST00000389524.4	+	22	2849	c.2796G>A	c.(2794-2796)caG>caA	p.Q932Q	MYO7B_ENST00000409816.2_Silent_p.Q932Q|MYO7B_ENST00000428314.1_Silent_p.Q932Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	932						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.Q932Q(4)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGAGGGCCAGGCCTCGCCGC	0.622000													5	9					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599915	123599915	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:123599915G>A	ENST00000340011.5	+	5	1779	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	SPAM1_ENST00000223028.7_Silent_p.E474E|SPAM1_ENST00000460182.1_Silent_p.E474E|SPAM1_ENST00000402183.2_Silent_p.E474E|SPAM1_ENST00000439500.1_Silent_p.E474E	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	474					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.E474E(4)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCCCATGGAGACAGAAGAAC	0.383000													59	142					0	0	1	0	0
LOC399815	399815	broad.mit.edu	37	10	124648206	124648206	+	RNA	SNP	C	C	T	rs11248323	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:124648206C>T	ENST00000425266.1	+	0	258																											CAGGAAAACACCACCAAGCCT	0.398000													4	77					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163253285	163253285	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:163253285C>G	ENST00000332142.5	-	11	2677	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	860					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.E860Q(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAAGTCAACTCTAGGTTTGTT	0.363000													79	61					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080108	57080108	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:57080108A>G	ENST00000532437.1	-	4	2365	c.2054T>C	c.(2053-2055)cTg>cCg	p.L685P	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L685P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	685	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.L685P(2)		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)				GAGGTCGTCCAGCCAGCGGGA	0.647000													4	14					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66933233	66933233	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:66933233C>G	ENST00000269080.2	-	4	462	c.325G>C	c.(325-327)Gat>Cat	p.D109H	ABCA8_ENST00000586539.1_Missense_Mutation_p.D109H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	109						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D109H(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTTTCCTCATCTGGCAGTCCC	0.338000													56	78					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86305044	86305044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:86305044C>T	ENST00000263857.6	-	11	1696	c.1318G>A	c.(1318-1320)Gct>Act	p.A440T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A440T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	440				YA -> ST (in Ref. 1; AAC99959).	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.A440T(2)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGCGCGCAGCGTAGTCCACT	0.453000													77	407					0	0	1	0	0
SLC35A1	10559	broad.mit.edu	37	6	88218187	88218187	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:88218187G>A	ENST00000369552.4	+	6	651	c.624G>A	c.(622-624)gtG>gtA	p.V208V	SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000544441.1_Silent_p.V74V|SLC35A1_ENST00000369556.3_Intron|SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	208					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity	p.V208V(2)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTTTGGGTGAGAAACATTC	0.294000													28	42					0	0	1	0	0
SFTPC	6440	broad.mit.edu	37	8	22019351	22019351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:22019351G>A	ENST00000521315.1	+	1	42	c.10G>A	c.(10-12)Ggc>Agc	p.G4S	SFTPC_ENST00000520605.1_Missense_Mutation_p.G4S|SFTPC_ENST00000437090.2_Missense_Mutation_p.G4S|SFTPC_ENST00000524255.1_Missense_Mutation_p.G4S|SFTPC_ENST00000522109.1_Missense_Mutation_p.G4S|SFTPC_ENST00000318561.3_Missense_Mutation_p.G4S			P11686	PSPC_HUMAN	surfactant protein C	4					respiratory gaseous exchange	extracellular space		p.G4S(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GATGGATGTGGGCAGCAAAGA	0.587000													3	30					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36967453	36967453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:36967453G>A	ENST00000454319.1	-	2	141	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000472909.2_5'UTR	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q3*(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TATCTCACCTGAGCCATGGCT	0.398000													23	121					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75756266	75756266	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:75756266C>T	ENST00000260113.2	+	3	503	c.324C>T	c.(322-324)tgC>tgT	p.C108C	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Silent_p.C108C	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	108						extracellular region	peptidase inhibitor activity	p.C108Y(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CGGCTACTTGCATTTGGGACC	0.433000													57	214					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170148767	170148767	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:170148767T>A	ENST00000263816.3	-	7	1050	c.765A>T	c.(763-765)ggA>ggT	p.G255G	LRP2_ENST00000443831.1_Silent_p.G255G	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	255	LDL-receptor class A 6.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G255G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCTTACCACATCCATCTTCAT	0.418000													53	267					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894884	139894884	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:139894884C>T	ENST00000458420.3	+	2	391	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	67	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A67A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACTGGTAGCCCTGGATAAAG	0.468000										HNSCC(16;0.037)			36	218					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000513339.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1									p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000													16	227					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28211923	28211923	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:28211923A>T	ENST00000354638.3	-	15	1704	c.1549T>A	c.(1549-1551)Tgc>Agc	p.C517S	OCA2_ENST00000353809.5_Missense_Mutation_p.C493S|OCA2_ENST00000382996.2_Missense_Mutation_p.C517S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	517					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.C517S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAACAAGGCAAATCCCAATG	0.493000									Oculocutaneous Albinism				29	50					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220170591	220170591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:220170591C>A	ENST00000366923.3	-	18	2544	c.2275G>T	c.(2275-2277)Gtt>Ttt	p.V759F	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	759	Glutamyl-tRNA synthetase.|WHEP-TRS 1.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.V759F(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCTCCTTGAACAGCCACTCTA	0.388000													56	96					1.79293e-35	2.23874e-35	1	1	0
RASAL1	8437	broad.mit.edu	37	12	113559391	113559391	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:113559391C>G	ENST00000546530.1	-	6	636	c.351G>C	c.(349-351)caG>caC	p.Q117H	RASAL1_ENST00000446861.3_Missense_Mutation_p.Q117H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q117H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q117H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	117					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.Q117H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGATCTCACCCTGCACTTCTG	0.562000													70	64					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28202874	28202874	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:28202874C>A	ENST00000354638.3	-	16	1799	c.1644G>T	c.(1642-1644)aaG>aaT	p.K548N	OCA2_ENST00000353809.5_Missense_Mutation_p.K524N|OCA2_ENST00000382996.2_Missense_Mutation_p.K548N	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	548					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.K548N(2)|p.K548K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATCTCGTGCTTCAGTTCTG	0.612000									Oculocutaneous Albinism				22	54					2.79863e-10	3.16904e-10	1	1	0
EPRS	2058	broad.mit.edu	37	1	220156531	220156531	+	Splice_Site	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:220156531C>T	ENST00000366923.3	-	22	3569	c.3300_splice	c.e22+1	p.E1100_splice		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1100	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.E1100E(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GCTCACTTACCTCTGGGGCAA	0.343000													54	109					0	0	1	0	0
HNRNPC	3183	broad.mit.edu	37	14	21699132	21699132	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:21699132G>A	ENST00000320084.7	-	3	580	c.341C>T	c.(340-342)cCg>cTg	p.P114L	HNRNPC_ENST00000420743.2_Missense_Mutation_p.P114L|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000555914.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000336053.6_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000553753.1_Intron|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P114L	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	114						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	p.P114L(1)		breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TAGAGGGGACGGAGAAGGGTG	0.478000													17	247					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73458031	73458031	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:73458031T>C	ENST00000377110.2	-	5	932	c.689A>G	c.(688-690)cAt>cGt	p.H230R	TRPM3_ENST00000377097.3_Missense_Mutation_p.H77R|TRPM3_ENST00000423814.3_Missense_Mutation_p.H232R|TRPM3_ENST00000358082.3_Missense_Mutation_p.H77R|TRPM3_ENST00000377105.1_Missense_Mutation_p.H77R|TRPM3_ENST00000408909.2_Missense_Mutation_p.H77R|TRPM3_ENST00000396280.5_Missense_Mutation_p.H77R|TRPM3_ENST00000377111.2_Missense_Mutation_p.H230R|TRPM3_ENST00000396283.1_Missense_Mutation_p.H77R|TRPM3_ENST00000361823.5_Missense_Mutation_p.H77R|TRPM3_ENST00000396285.1_Missense_Mutation_p.H77R|TRPM3_ENST00000360823.2_Missense_Mutation_p.H77R|TRPM3_ENST00000396292.4_Missense_Mutation_p.H77R|TRPM3_ENST00000377106.1_Missense_Mutation_p.H77R|TRPM3_ENST00000357533.2_Missense_Mutation_p.H232R|TRPM3_ENST00000377101.1_Missense_Mutation_p.H77R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	230						integral to membrane	calcium channel activity	p.H77R(1)|p.H232R(1)|p.H230R(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATCGCCAACATGACGAATAAC	0.403000													6	61					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81601108	81601108	+	Missense_Mutation	SNP	C	C	T	rs78086631	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:81601108C>T	ENST00000356860.3	-	26	2464	c.2126G>A	c.(2125-2127)aGt>aAt	p.S709N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S721N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	721						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTCTGCTTACTCCAGTAATT	0.308000													4	80					0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12939476	12939476	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:12939476C>T	ENST00000393233.2	-	5	785	c.236G>A	c.(235-237)aGg>aAg	p.R79K	RTBDN_ENST00000458671.2_Silent_p.Q120Q|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Silent_p.Q152Q|RTBDN_ENST00000589272.1_Silent_p.Q152Q|RTBDN_ENST00000592204.1_Silent_p.Q130Q	NM_001270440.1	NP_001257369.1	Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region		p.Q152Q(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCTACCAGGCCTGGCAGAGCT	0.647000													4	13					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77847609	77847609	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:77847609G>C	ENST00000407578.2	-	5	1209	c.943C>G	c.(943-945)Cag>Gag	p.Q315E	MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q277E|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q277E|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.Q277E(4)|p.Q315E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAAATACCTGAATAGTTTGG	0.398000													34	152					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838656	145838656	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:145838656G>A	ENST00000296702.5	+	4	686	c.648G>A	c.(646-648)caG>caA	p.Q216Q	TCERG1_ENST00000394421.2_Silent_p.Q216Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	216	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaggcccaggccc	0.731000													2	4					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58156414	58156414	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:58156414G>T	ENST00000295956.4	+	46	7899	c.7734G>T	c.(7732-7734)agG>agT	p.R2578S	FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.R2385S|FLNB_ENST00000490882.1_Missense_Mutation_p.R2609S|FLNB_ENST00000429972.2_Missense_Mutation_p.R2567S|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.R2398S|FLNB_ENST00000358537.3_Missense_Mutation_p.R2554S|FLNB_ENST00000348383.5_Missense_Mutation_p.R2537S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2578	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.R2609S(1)|p.R2578S(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCAAGGAGAGGGGCGATTATG	0.547000													4	85					1	1	1	1	0
DRD2	1813	broad.mit.edu	37	11	113286252	113286252	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:113286252G>T	ENST00000362072.3	-	5	958	c.614C>A	c.(613-615)aCc>aAc	p.T205N	DRD2_ENST00000544518.1_Missense_Mutation_p.T204N|DRD2_ENST00000542968.1_Missense_Mutation_p.T205N|DRD2_ENST00000538967.1_Missense_Mutation_p.T205N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.T205N|DRD2_ENST00000346454.3_Missense_Mutation_p.T205N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	205					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.T205N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GACCAGCAGGGTGACAATGAA	0.592000													58	134					1.64573e-32	2.04389e-32	1	1	0
TOMM70A	9868	broad.mit.edu	37	3	100100548	100100548	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:100100548C>A	ENST00000284320.5	-	5	1243	c.795G>T	c.(793-795)acG>acT	p.T265T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	265					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.T265T(2)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGATATCATCCGTGAAAGAAC	0.378000													70	168					3.4779e-39	4.36627e-39	1	1	0
SEZ6L	23544	broad.mit.edu	37	22	26747039	26747039	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr22:26747039G>T	ENST00000529632.2	+	12	2625	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G810V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G810V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G7V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G810V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	810	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.G810V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACCGACCCCGGAGAGGTGGAT	0.527000													21	97					3.28513e-13	3.81339e-13	1	1	0
CEP57	9702	broad.mit.edu	37	11	95546154	95546154	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:95546154G>C	ENST00000325542.5	+	3	499	c.261G>C	c.(259-261)agG>agC	p.R87S	CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000541150.1_Missense_Mutation_p.R78S|CEP57_ENST00000325486.5_Missense_Mutation_p.R87S|CEP57_ENST00000538658.1_Missense_Mutation_p.R87S|CEP57_ENST00000537677.1_Missense_Mutation_p.R60S	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	87	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	p.R87S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTTGAGAGGATTCAGGCAG	0.368000									Mosaic Variegated Aneuploidy Syndrome				25	151					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	515659	515659	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:515659G>C	ENST00000453061.2	+	8	1649	c.1543G>C	c.(1543-1545)Gcc>Ccc	p.A515P	PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.A426P|PIGG_ENST00000383028.4_Missense_Mutation_p.A382P|PIGG_ENST00000310340.5_Missense_Mutation_p.A507P|PIGG_ENST00000509768.1_Missense_Mutation_p.A426P|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000536264.1_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	515					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.A507P(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GATGGTGCTGGCCTCGGCGCT	0.587000													21	58					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757573	99757573	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:99757573G>A	ENST00000360039.4	-	4	1831	c.1439C>T	c.(1438-1440)aCt>aTt	p.T480I	GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.T480I|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.T418I	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	480					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCCTTGAAGTCTTGAGGGG	0.547000													6	73					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237995884	237995884	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:237995884G>T	ENST00000366574.2	+	105	15158	c.14841G>T	c.(14839-14841)agG>agT	p.R4947S	RYR2_ENST00000360064.6_Missense_Mutation_p.R4953S|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAAGAAAGGTGTTGGGAAT	0.388000													48	110					9.40535e-28	1.14954e-27	1	1	0
TTC16	158248	broad.mit.edu	37	9	130479208	130479208	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:130479208T>A	ENST00000373289.3	+	2	184	c.104T>A	c.(103-105)aTc>aAc	p.I35N	PTRH1_ENST00000419060.1_5'UTR|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	35							binding	p.I35N(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTGCAGCACATCTTTGGGACC	0.542000													48	35					0	0	0.014410	0	0
LIG3	3980	broad.mit.edu	37	17	33329065	33329065	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:33329065G>A	ENST00000378526.4	+	18	2749	c.2616G>A	c.(2614-2616)aaG>aaA	p.K872K	LIG3_ENST00000262327.5_Silent_p.K872K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	872					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	p.K872K(1)|p.K785K(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCCCCAGCAAGCCCTCAGCCA	0.572000								Other BER factors					9	103					0	0	0.004482	0	0
RMND5B	64777	broad.mit.edu	37	5	177570722	177570722	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:177570722C>T	ENST00000515098.1	+	7	872	c.521C>T	c.(520-522)gCg>gTg	p.A174V	RMND5B_ENST00000313386.4_Missense_Mutation_p.A174V|RMND5B_ENST00000542098.1_Missense_Mutation_p.A161V			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	174	CTLH.							p.A174V(2)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGTCCTGCGTTGGAGTAA	0.527000													19	40					0	0	0.007413	0	0
PDZD8	118987	broad.mit.edu	37	10	119043731	119043731	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:119043731T>G	ENST00000334464.5	-	5	2752	c.2513A>C	c.(2512-2514)gAa>gCa	p.E838A		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	838					intracellular signal transduction		metal ion binding	p.E838A(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTGTTTGTTTTCTGTTAAACC	0.383000													38	77					0	0	0.004289	0	0
RPP40	10799	broad.mit.edu	37	6	4996626	4996626	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:4996626A>T	ENST00000380051.2	-	6	632	c.588T>A	c.(586-588)taT>taA	p.Y196*	RPP40_ENST00000464646.1_Nonsense_Mutation_p.Y136*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.Y173*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	196					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.Y196*(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				ACTTGGAAAAATATGACATCA	0.453000													17	162					0	0	0.004990	0	0
PCDH17	27253	broad.mit.edu	37	13	58208543	58208543	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:58208543G>T	ENST00000377918.3	+	1	1889	c.1863G>T	c.(1861-1863)ggG>ggT	p.G621G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	621	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGAGAGCGGGCGTCTCACCT	0.657000													10	162					4.3838e-07	4.70118e-07	0.001855	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	156					0	0	0.000602	0	0
FOXM1	2305	broad.mit.edu	37	12	2977850	2977850	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:2977850A>T	ENST00000342628.2	-	4	838	c.725T>A	c.(724-726)aTg>aAg	p.M242K	FOXM1_ENST00000361953.3_Missense_Mutation_p.M242K|FOXM1_ENST00000359843.3_Missense_Mutation_p.M242K|FOXM1_ENST00000537018.1_5'UTR	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	242					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	p.M242K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TATCATGGCCATGTAAGAGTA	0.498000													96	250					0	0	0.014410	0	0
CLCA2	9635	broad.mit.edu	37	1	86900422	86900422	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:86900422G>T	ENST00000370565.4	+	6	1128	c.966G>T	c.(964-966)atG>atT	p.M322I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	322	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCAGCAAGATGGCAGAGGTAA	0.398000													5	131					0.000602214	0.000620543	0.000602	1	0
PDZD2	23037	broad.mit.edu	37	5	31799826	31799826	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:31799826G>C	ENST00000438447.1	+	2	859	c.471G>C	c.(469-471)ggG>ggC	p.G157G	PDZD2_ENST00000282493.3_Silent_p.G157G			O15018	PDZD2_HUMAN	PDZ domain containing 2	157	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						ATGTCAGTGGGGCCAGGTAAG	0.572000													7	222					0	0	0.001984	0	0
PGAM4	441531	broad.mit.edu	37	X	77224407	77224407	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:77224407T>C	ENST00000458128.1	-	1	728	c.729A>G	c.(727-729)atA>atG	p.I243M	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	243					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCACAGCTTCTATGGCTTTGC	0.567000													5	110					0	0	0.003080	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444131	5444131	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:5444131C>A	ENST00000300778.4	+	1	791	c.701C>A	c.(700-702)gCt>gAt	p.A234D	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A234D(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACCTGGGCTGAGCGACTC	0.483000													96	131					1.69331e-39	2.16927e-39	0.014410	1	0
LTBP3	4054	broad.mit.edu	37	11	65318931	65318931	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:65318931C>G	ENST00000301873.5	-	10	1831	c.1563G>C	c.(1561-1563)gaG>gaC	p.E521D	LTBP3_ENST00000322147.4_Missense_Mutation_p.E521D|LTBP3_ENST00000536982.1_Missense_Mutation_p.E147D	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	521						extracellular region	calcium ion binding|growth factor binding	p.E521D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCACTGACCTCTCCTCACTCA	0.637000													25	79					0	0	0.005443	0	0
LHX8	431707	broad.mit.edu	37	1	75608822	75608822	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:75608822T>G	ENST00000294638.5	+	6	1073	c.409T>G	c.(409-411)Tct>Gct	p.S137A	LHX8_ENST00000356261.3_Missense_Mutation_p.S127A	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	137	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S137A(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AACTCGCTGCTCTCGATGTGG	0.443000													17	61					0	0	0.010504	0	0
TM4SF19	116211	broad.mit.edu	37	3	196050777	196050777	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:196050777G>T	ENST00000446879.1	-	5	662	c.537C>A	c.(535-537)ttC>ttA	p.F179L	TM4SF19_ENST00000273695.3_Missense_Mutation_p.L181M|TM4SF19_ENST00000454715.1_Missense_Mutation_p.L155M|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane		p.L181M(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CTGATGCACAGAAGGGCGGAG	0.567000													19	116					3.57192e-18	4.254e-18	0.006122	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766598	27766598	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:27766598C>T	ENST00000451261.2	+	5	1985	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.A496V(2)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CCTGTGTTGGCGTGCAGTGGC	0.473000													17	4					0	0	0.004007	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406296	38406296	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:38406296G>A	ENST00000322350.5	+	7	1127	c.781G>A	c.(781-783)Gat>Aat	p.D261N	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D261N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D27N|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	261						cell junction|proteinaceous extracellular matrix|synapse		p.D261N(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGTGAGGATGATGAAGGATT	0.473000													36	55					0	0	0.003271	0	0
TEPP	374739	broad.mit.edu	37	16	58011792	58011792	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:58011792G>A	ENST00000290871.5	+	2	274	c.237G>A	c.(235-237)ctG>ctA	p.L79L	TEPP_ENST00000441824.2_Silent_p.L79L|TEPP_ENST00000569996.1_Intron	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	79						extracellular region		p.L79L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CGGCCATCCTGCTTCCCATGG	0.657000													132	209					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617598	77617598	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:77617598C>A	ENST00000521891.2	+	2	1723	c.1275C>A	c.(1273-1275)ctC>ctA	p.L425L	ZFHX4_ENST00000455469.2_Silent_p.L425L|ZFHX4_ENST00000518282.1_Silent_p.L425L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.L425L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	425						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L425L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGTCTCCCTCAGCCACTCAT	0.502000										HNSCC(33;0.089)			20	33					8.34094e-07	8.78579e-07	0.008871	1	0
EBF3	253738	broad.mit.edu	37	10	131646712	131646712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:131646712G>A	ENST00000368648.3	-	11	1117	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.Q358*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	358					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.Q349*(3)|p.Q358*(3)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCAACCTCTGAAAGCCGTAA	0.468000													53	192					0	0	0.014410	0	0
PARP11	57097	broad.mit.edu	37	12	3938098	3938098	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:3938098G>A	ENST00000228820.4	-	3	390	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PARP11_ENST00000427057.2_Intron|PARP11_ENST00000397096.2_Silent_p.F75F|PARP11_ENST00000447133.3_Intron	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	75	WWE.						NAD+ ADP-ribosyltransferase activity	p.F75F(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTGTAGCTGAATTTGGAAG	0.358000													11	80					0	0	0.008291	0	0
AGPS	8540	broad.mit.edu	37	2	178402821	178402821	+	Silent	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:178402821A>G	ENST00000264167.4	+	20	2021	c.1875A>G	c.(1873-1875)caA>caG	p.Q625Q	AGPS_ENST00000409888.1_Silent_p.Q156Q	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	625					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.Q625Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TACGGAAGCAATGGCTAAAGG	0.388000													6	84					0	0	0.003080	0	0
LATS2	26524	broad.mit.edu	37	13	21557918	21557918	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:21557918G>C	ENST00000382592.4	-	5	2332	c.1927C>G	c.(1927-1929)Cag>Gag	p.Q643E	LATS2_ENST00000542899.1_Missense_Mutation_p.Q643E	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	643					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q643E(4)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTCCGCATCTGCTCCTGCTCA	0.458000													17	64					0	0	0.007413	0	0
NSUN6	221078	broad.mit.edu	37	10	18937479	18937479	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:18937479C>T	ENST00000377304.4	-	2	589	c.171G>A	c.(169-171)gtG>gtA	p.V57V	RP11-139J15.7_ENST00000606425.1_Silent_p.V45V	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	57							methyltransferase activity|RNA binding	p.V57V(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGTATTCACTCTGACAG	0.338000													11	51					0	0	0.010729	0	0
CEP152	22995	broad.mit.edu	37	15	49048414	49048414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:49048414G>A	ENST00000380950.2	-	20	3218	c.3031C>T	c.(3031-3033)Cag>Tag	p.Q1011*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q918*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q1011*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1011					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.Q1011*(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTCTCCTTCTGAAGAAGTAGT	0.393000													35	62					0	0	0.003271	0	0
POLE	5426	broad.mit.edu	37	12	133219516	133219516	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:133219516T>G	ENST00000320574.5	-	36	4661	c.4618A>C	c.(4618-4620)Aag>Cag	p.K1540Q	POLE_ENST00000535270.1_Missense_Mutation_p.K1513Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1540					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGGCCCACCTTCTCCAGGAGG	0.627000								DNA polymerases (catalytic subunits)					69	70					0	0	0.014410	0	0
KMT2C	58508	broad.mit.edu	37	7	151945303	151945303	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:151945303G>C	ENST00000355193.2	-	14	2434	c.2216C>G	c.(2215-2217)tCt>tGt	p.S739C	KMT2C_ENST00000262189.6_Missense_Mutation_p.S739C					lysine (K)-specific methyltransferase 2C																		AGTCATTTCAGAGTCCATCAA	0.363000													3	78					0	0	0.009096	0	0
GADL1	339896	broad.mit.edu	37	3	30769763	30769763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:30769763C>T	ENST00000282538.5	-	15	1687	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	GADL1_ENST00000498387.1_5'UTR	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	513					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.E513K(2)|p.E329K(2)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGTCTATCTCATCCAGGAGG	0.537000													58	152					0	0	0.014410	0	0
DNAI2	64446	broad.mit.edu	37	17	72295931	72295931	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:72295931T>G	ENST00000579490.1	+	6	1105	c.970T>G	c.(970-972)Tat>Gat	p.Y324D	DNAI2_ENST00000446837.2_Missense_Mutation_p.Y267D|DNAI2_ENST00000582036.1_Missense_Mutation_p.Y267D|DNAI2_ENST00000311014.6_Missense_Mutation_p.Y267D|DNAI2_ENST00000307504.5_Missense_Mutation_p.Y124D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	267					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	p.Y267D(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGACCCTGTGTATGGCACCAT	0.607000									Kartagener syndrome				38	50					0	0	0.006999	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077532	19077532	+	Missense_Mutation	SNP	G	G	A	rs60756581	byFrequency	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:19077532G>A	ENST00000329773.2	-	2	505	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	140					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.R140C(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGGGGCGGCGGCAGCGATAC	0.607000													22	90					0	0	0.003330	0	0
SLC44A4	80736	broad.mit.edu	37	6	31833121	31833121	+	Silent	SNP	C	C	T	rs142009471		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:31833121C>T	ENST00000544672.1	-	17	1799	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	SLC44A4_ENST00000229729.6_Silent_p.A577A|SLC44A4_ENST00000375562.4_Silent_p.A535A	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	577						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A577A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTAGCATGAACGCATTTTTGG	0.562000													52	269					0	0	0.014410	0	0
USP47	55031	broad.mit.edu	37	11	11941942	11941942	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:11941942C>T	ENST00000339865.5	+	9	1678	c.915C>T	c.(913-915)ttC>ttT	p.F305F	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Silent_p.F393F|USP47_ENST00000527733.1_Silent_p.F373F	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	393					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.F305F(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGAAAAGATTCGATTTTGATT	0.358000													16	59					0	0	0.004990	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326355	25326355	+	RNA	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:25326355T>G	ENST00000546682.1	+	0	55				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CCAGAGGCTGTTGGGATCCTC	0.507000													11	39					0	0	0.002780	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521497	64521497	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:64521497T>A	ENST00000355086.3	+	20	3057	c.2533T>A	c.(2533-2535)Tta>Ata	p.L845I	SRGAP1_ENST00000543397.1_Missense_Mutation_p.L782I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L822I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	845					axon guidance	cytosol		p.L845I(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGACGGCTATTTAGCCAGGTA	0.597000													21	117					0	0	0.010504	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827175	5827175	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:5827175T>A	ENST00000381095.3	-	4	1358	c.731A>T	c.(730-732)gAc>gTc	p.D244V	NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	244					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.D244F(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTCTTGGGGTCCCCGCCAAA	0.572000													18	47					0	0	0.008871	0	0
SH2B1	25970	broad.mit.edu	37	16	28878061	28878061	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:28878061G>C	ENST00000337120.5	+	1	3937	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SH2B1_ENST00000322610.8_Missense_Mutation_p.D216H|SH2B1_ENST00000395532.4_Missense_Mutation_p.D216H|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.D216H|SH2B1_ENST00000563674.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	216	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.D216H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACTGGTCAGTGATGGAACGTC	0.622000													37	49					0	0	0.004878	0	0
C14orf159	80017	broad.mit.edu	37	14	91691111	91691111	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:91691111G>T	ENST00000518868.1	+	17	2490	c.1800G>T	c.(1798-1800)ctG>ctT	p.L600L	C14orf159_ENST00000428926.2_Silent_p.L595L|C14orf159_ENST00000523771.1_Silent_p.L595L|C14orf159_ENST00000522322.1_Silent_p.L595L|C14orf159_ENST00000523816.1_Silent_p.L595L|C14orf159_ENST00000520328.1_Silent_p.L543L|C14orf159_ENST00000525393.2_Silent_p.L471L|C14orf159_ENST00000523576.1_3'UTR|C14orf159_ENST00000521077.2_Silent_p.L560L|C14orf159_ENST00000412671.2_Silent_p.L600L|C14orf159_ENST00000256324.10_Silent_p.L600L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	595						mitochondrion		p.L595L(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGATGGGCTGCCCTTCCACA	0.572000													39	18					8.16277e-20	9.87029e-20	0.006999	1	0
PLCB3	5331	broad.mit.edu	37	11	64029532	64029532	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:64029532C>T	ENST00000540288.1	+	17	2125	c.2022C>T	c.(2020-2022)ctC>ctT	p.L674L	PLCB3_ENST00000325234.5_Silent_p.L607L|PLCB3_ENST00000279230.6_Silent_p.L674L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	674	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L674L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TTGTTGCGCTCAACTTCCAGA	0.607000													37	88					0	0	0.006999	0	0
SAP30BP	29115	broad.mit.edu	37	17	73689542	73689542	+	Missense_Mutation	SNP	G	G	C	rs150596591	byFrequency	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:73689542G>C	ENST00000584667.1	+	4	544	c.287G>C	c.(286-288)cGa>cCa	p.R96P	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.R80P	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	96					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.R96P(2)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGAAAAGCGAGACCCCCAG	0.552000													17	73					0	0	0.008871	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906022	96906022	+	RNA	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:96906022T>C	ENST00000446816.1	+	0	564																											CCCTTCAGAATACATGGACAA	0.418000													3	27					0	0	0.004672	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827176	5827176	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:5827176C>A	ENST00000381095.3	-	4	1357	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	NLGN4X_ENST00000538097.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D264Y|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D244Y|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D244Y	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	244					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.D244F(1)|p.D244Y(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTCTTGGGGTCCCCGCCAAAG	0.567000													17	49					3.99206e-14	4.54864e-14	0.007413	1	0
ZNF160	90338	broad.mit.edu	37	19	53576594	53576594	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:53576594A>C	ENST00000355147.5	-	7	848	c.440T>G	c.(439-441)tTc>tGc	p.F147C	ZNF160_ENST00000599056.1_Intron|ZNF160_ENST00000601421.1_Intron|ZNF160_ENST00000429604.1_Intron|ZNF160_ENST00000418871.1_Intron			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	0					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACAATCTTAGAAGATAGAACC	0.478000													21	56					0	0	0.010504	0	0
EID3	493861	broad.mit.edu	37	12	104698247	104698247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:104698247C>A	ENST00000527879.1	+	1	731	c.535C>A	c.(535-537)Cgt>Agt	p.R179S	TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R179S(1)		large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAAGCTAGAACGTTCTGCACC	0.428000													39	239					1.67305e-13	1.8792e-13	0.006230	1	0
ZNF160	90338	broad.mit.edu	37	19	53589517	53589517	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:53589517G>T	ENST00000429604.1	-	4	428	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	ZNF160_ENST00000599056.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000418871.1_Missense_Mutation_p.Q5K|ZNF160_ENST00000355147.5_Missense_Mutation_p.Q5K	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	5					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q5K(2)|p.Q5E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CACTTTACCTGAGTAAGGGCC	0.428000													38	84					2.87052e-16	3.3513e-16	0.005524	1	0
NR4A1	3164	broad.mit.edu	37	12	52448376	52448376	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:52448376A>C	ENST00000545748.1	+	3	1421	c.426A>C	c.(424-426)acA>acC	p.T142T	NR4A1_ENST00000550082.1_Silent_p.T101T|NR4A1_ENST00000360284.3_Silent_p.T101T|NR4A1_ENST00000548232.1_Silent_p.T88T|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000394824.2_Silent_p.T88T|NR4A1_ENST00000394825.1_Silent_p.T88T|NR4A1_ENST00000243050.1_Silent_p.T88T			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	88					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		cctcctccacatcctcgtcct	0.627000													18	108					0	0	0.004990	0	0
FBN2	2201	broad.mit.edu	37	5	127599169	127599169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:127599169C>A	ENST00000508053.1	-	69	9114	c.8140G>T	c.(8140-8142)Gag>Tag	p.E2714*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E2714*			P35556	FBN2_HUMAN	fibrillin 2	2714	EGF-like 47; 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	p.E2714*(4)		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)		TAGCCCCCCTCCGTGTTAGAG	0.587000													50	59					6.26901e-30	7.81977e-30	0.014410	1	0
FAM43A	131583	broad.mit.edu	37	3	194407563	194407563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:194407563C>T	ENST00000329759.4	+	1	942	c.8C>T	c.(7-9)cCg>cTg	p.P3L		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	3								p.P3L(1)		breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GAGATGCTGCCGTGGAAGAAG	0.761000													10	29					0	0	0.010729	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22446767	22446767	+	RNA	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:22446767C>G	ENST00000390443.3	+	0	69																											CATCCAGGCTCCTTAAGGGAA	0.517000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	5					0	0	0.010729	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162181	90162181	+	RNA	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:90162181C>T	ENST00000567960.1	+	0	917				TUBB8P7_ENST00000564451.1_RNA																							CTGTGACCCCCGTCATGGCCG	0.562000													13	64					0	0	0.003954	0	0
GRSF1	2926	broad.mit.edu	37	4	71701932	71701932	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:71701932G>C	ENST00000254799.6	-	2	574	c.457C>G	c.(457-459)Cga>Gga	p.R153G	GRSF1_ENST00000545193.1_Missense_Mutation_p.R35G|GRSF1_ENST00000439371.1_5'UTR|GRSF1_ENST00000508091.1_5'UTR|GRSF1_ENST00000502323.1_5'UTR	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	153	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding	p.R153G(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			CCTTGAGCTCGAATGAGAAAG	0.398000													17	137					0	0	0.004007	0	0
ATP6V1A	523	broad.mit.edu	37	3	113505180	113505180	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:113505180A>C	ENST00000273398.3	+	6	774	c.666A>C	c.(664-666)ccA>ccC	p.P222P	ATP6V1A_ENST00000538620.1_Silent_p.P189P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	222					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.P222P(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAGCTGCCAGCCAATCATC	0.463000													42	223					0	0	0.010771	0	0
RETSAT	54884	broad.mit.edu	37	2	85577259	85577259	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:85577259G>A	ENST00000295802.4	-	4	815	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	RETSAT_ENST00000457495.2_Missense_Mutation_p.L174F|RETSAT_ENST00000263854.6_Missense_Mutation_p.L235F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	235					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.L235F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GATGCTTGAAGGAATGGAGAG	0.587000													36	211					0	0	0.003271	0	0
HHEX	3087	broad.mit.edu	37	10	94452138	94452138	+	Silent	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:94452138C>G	ENST00000282728.5	+	2	2174	c.375C>G	c.(373-375)ctC>ctG	p.L125L	HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	125	Pro-rich.				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	p.L125L(2)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AACCTCTACTCTGGAGCCCCT	0.617000													64	84					0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	40730910	40730910	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr20:40730910G>A	ENST00000373198.3	-	27	3869	c.3634C>T	c.(3634-3636)Cgg>Tgg	p.R1212W	PTPRT_ENST00000373184.1_Missense_Mutation_p.R1200W|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1189W|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1199W|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1193W|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1180W|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1190W	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1190	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCCTCGGGCCGCACACGGGGT	0.562000													5	203					0	0	0.001168	0	0
PGAM4	441531	broad.mit.edu	37	X	77224418	77224418	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:77224418A>G	ENST00000458128.1	-	1	717	c.718T>C	c.(718-720)Tgc>Cgc	p.C240R	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	240					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	p.C240R(1)		endometrium(2)|lung(4)	6						ATGGCTTTGCACACCGTCTCT	0.562000													4	118					0	0	0.003080	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072821	17072821	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr22:17072821G>T	ENST00000359963.3	-	1	879	c.620C>A	c.(619-621)gCg>gAg	p.A207E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	207					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.A207G(1)|p.A207V(1)|p.A207E(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCCGGGCAGCGCGCACACCCC	0.617000													35	149					1.836e-18	2.19764e-18	0.003755	1	0
USP42	84132	broad.mit.edu	37	7	6189291	6189291	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:6189291C>T	ENST00000306177.5	+	13	1622	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	488					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.S616S(1)|p.S488S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACGGGAATTCCAGTGTCAACA	0.463000													67	108					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617600	77617600	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:77617600G>A	ENST00000521891.2	+	2	1725	c.1277G>A	c.(1276-1278)aGc>aAc	p.S426N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S426N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S426N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S426N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	426						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S426N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTCTCCCTCAGCCACTCATCG	0.502000										HNSCC(33;0.089)			21	33					0	0	0.008871	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253953	39253953	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:39253953G>T	ENST00000333822.4	-	1	440	c.384C>A	c.(382-384)agC>agA	p.S128R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	128	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agatgctgcagctggggcggc	0.672000													6	6					4.75885e-15	5.50169e-15	0.004990	1	0
AQP12B	653437	broad.mit.edu	37	2	241621963	241621963	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:241621963G>T	ENST00000407834.3	-	1	354	c.292C>A	c.(292-294)Ctg>Atg	p.L98M		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	86						integral to membrane	transporter activity	p.L98M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		AACTCCTGCAGGGACACGGTG	0.687000													13	74					7.03913e-09	7.61768e-09	0.013537	1	0
SLC6A16	28968	broad.mit.edu	37	19	49812634	49812634	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:49812634A>C	ENST00000454748.3	-	6	1112	c.911T>G	c.(910-912)aTc>aGc	p.I304S	SLC6A16_ENST00000335875.4_Missense_Mutation_p.I304S			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	304						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.I304S(2)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ACCGACAATGATGAAACAGGG	0.493000													11	81					0	0	0.002450	0	0
TMEM260	54916	broad.mit.edu	37	14	57099793	57099793	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:57099793C>T	ENST00000261556.6	+	13	1750	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F	TMEM260_ENST00000538838.1_3'UTR|TMEM260_ENST00000536419.1_Missense_Mutation_p.S77F	NM_017799.3	NP_060269.3			transmembrane protein 260																		CCATGGGGGTCTTGTGACAAA	0.368000													19	47					0	0	0.010504	0	0
TRIO	7204	broad.mit.edu	37	5	14291189	14291189	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:14291189C>T	ENST00000344204.4	+	5	929	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TRIO_ENST00000509967.2_Missense_Mutation_p.A253V|TRIO_ENST00000537187.1_Missense_Mutation_p.A302V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	302					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCAGGCAATGCGGACCTGCAG	0.562000													5	222					0	0	0.000602	0	0
MAN1A2	10905	broad.mit.edu	37	1	117944871	117944871	+	Silent	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:117944871A>C	ENST00000356554.3	+	2	1101	c.366A>C	c.(364-366)gcA>gcC	p.A122A	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	122					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.A122A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGGAAGAAGCAAAAGAAAAAT	0.373000													10	34					0	0	0.006214	0	0
CDH9	1007	broad.mit.edu	37	5	26881693	26881693	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:26881693T>C	ENST00000231021.4	-	12	2094	c.1922A>G	c.(1921-1923)aAa>aGa	p.K641R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K641R(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGTTCCTTTTTTCTTTGCCT	0.388000													16	61					0	0	0.004990	0	0
SLC6A15	55117	broad.mit.edu	37	12	85266387	85266387	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:85266387T>A	ENST00000266682.5	-	8	1837	c.1296A>T	c.(1294-1296)ctA>ctT	p.L432L	SLC6A15_ENST00000309283.7_Silent_p.L140L|SLC6A15_ENST00000552192.1_Silent_p.L325L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	432					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.L432L(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TAACTTTATTTAGCTCTTCTT	0.328000													9	60					0	0	0.004482	0	0
VPRBP	9730	broad.mit.edu	37	3	51440599	51440599	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:51440599C>A	ENST00000335891.5	-	16	3105	c.3096G>T	c.(3094-3096)gaG>gaT	p.E1032D				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1481					interspecies interaction between organisms	cytoplasm|nucleus	protein binding	p.E1485D(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCAGTTCCACCTCCTCATCTG	0.527000													34	26					1.07121e-22	1.30864e-22	0.006999	1	0
UNC13C	440279	broad.mit.edu	37	15	54305729	54305729	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:54305729G>A	ENST00000545554.1	+	1	629	c.629G>A	c.(628-630)aGa>aAa	p.R210K	UNC13C_ENST00000537900.1_Missense_Mutation_p.R210K|UNC13C_ENST00000260323.11_Missense_Mutation_p.R210K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	210					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R210K(4)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGGGAATAAGAAGTAAGTCT	0.438000													38	151					0	0	0.005524	0	0
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:204948557C>A	ENST00000367172.4	+	19	2374	c.2046C>A	c.(2044-2046)ccC>ccA	p.P682P	NFASC_ENST00000401399.1_Silent_p.P682P|NFASC_ENST00000404907.1_Silent_p.P678P|NFASC_ENST00000367170.4_Silent_p.P682P|NFASC_ENST00000367171.4_Silent_p.P667P|NFASC_ENST00000367169.4_Silent_p.P682P|NFASC_ENST00000539706.1_Silent_p.P678P|NFASC_ENST00000338586.6_Silent_p.P682P|NFASC_ENST00000338515.6_Silent_p.P682P|NFASC_ENST00000339876.6_Silent_p.P682P|NFASC_ENST00000360049.4_Silent_p.P678P|NFASC_ENST00000404076.1_Silent_p.P661P|NFASC_ENST00000513543.1_Silent_p.P678P			O94856	NFASC_HUMAN	neurofascin	682	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572000													44	216					5.78141e-17	6.81689e-17	0.013114	1	0
KIAA0430	9665	broad.mit.edu	37	16	15705448	15705448	+	Splice_Site	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:15705448C>A	ENST00000396368.3	-	18	3824		c.e18+1		KIAA0430_ENST00000602337.1_Splice_Site|KIAA0430_ENST00000551742.1_Splice_Site|KIAA0430_ENST00000548025.1_Splice_Site|KIAA0430_ENST00000540441.2_Splice_Site|KIAA0430_ENST00000344181.3_Splice_Site	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430							peroxisome	nucleotide binding|RNA binding	p.?(2)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CATCAACTCACCAGTGATAAG	0.368000													31	52					7.16026e-08	7.71355e-08	0.012213	1	0
KEAP1	9817	broad.mit.edu	37	19	10600446	10600446	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:10600446C>T	ENST00000171111.5	-	4	1956	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470H	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATAAAGGAGACGATTGAGGAC	0.562000													25	21					0	0	0.002780	0	0
GPR124	25960	broad.mit.edu	37	8	37692771	37692771	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:37692771G>A	ENST00000412232.2	+	12	1701	c.1688G>A	c.(1687-1689)aGg>aAg	p.R563K	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	563					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R556K(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCTTCCAGAGGAGGGAGGGA	0.672000													23	52					0	0	0.003954	0	0
ISCU	23479	broad.mit.edu	37	12	108957910	108957910	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:108957910G>T	ENST00000338291.4	+	2	206	c.18G>T	c.(16-18)atG>atT	p.M6I	ISCU_ENST00000547005.1_Intron|ISCU_ENST00000431221.2_Intron|ISCU_ENST00000539593.1_Intron|ISCU_ENST00000535729.1_Intron|ISCU_ENST00000392807.4_Missense_Mutation_p.M6I|ISCU_ENST00000311893.9_Intron			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	0					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	p.M6I(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TCATTGACATGAGTGTAGACC	0.403000													36	192					3.38236e-24	4.15346e-24	0.006999	1	0
MANF	7873	broad.mit.edu	37	3	51425216	51425216	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:51425216G>A	ENST00000528157.1	+	3	567	c.271G>A	c.(271-273)Gag>Aag	p.E91K	MANF_ENST00000470900.1_3'UTR	NM_006010.4	NP_006001.3	P55145	MANF_HUMAN	mesencephalic astrocyte-derived neurotrophic factor	91					response to unfolded protein	extracellular region	growth factor activity	p.E91K(1)|p.E94K(1)		lung(1)|ovary(1)	2						AATCATCAATGAGGTATCAAA	0.483000													11	22					0	0	0.008291	0	0
CHCHD6	84303	broad.mit.edu	37	3	126676372	126676372	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:126676372G>A	ENST00000508789.1	+	7	755	c.683G>A	c.(682-684)cGc>cAc	p.R228H	CHCHD6_ENST00000290913.3_Missense_Mutation_p.R227H			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	227	CHCH.							p.R227H(1)		endometrium(2)|large_intestine(3)|lung(3)	8						GCATACCAGCGCTGCGTGAGC	0.617000													16	22					0	0	0.004007	0	0
FANCM	57697	broad.mit.edu	37	14	45606340	45606340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:45606340G>T	ENST00000267430.5	+	2	662	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	FANCM_ENST00000556036.1_Missense_Mutation_p.V193F|FANCM_ENST00000542564.2_Missense_Mutation_p.V193F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	193	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.V193F(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TACACCTCAGGTCATGGTAAA	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	565					5.35267e-07	5.71433e-07	0.007413	1	0
TEX33	339669	broad.mit.edu	37	22	37387544	37387544	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr22:37387544A>T	ENST00000405091.2	-	6	974	c.723T>A	c.(721-723)caT>caA	p.H241Q	TEX33_ENST00000402860.3_Missense_Mutation_p.H156Q|TEX33_ENST00000381821.1_Missense_Mutation_p.H241Q			O43247	EAN57_HUMAN	testis expressed 33	241								p.H156Q(2)									TCTTCCTGCCATGCCAGTGTT	0.542000													120	209					0	0	0.014410	0	0
FLNA	2316	broad.mit.edu	37	X	153593044	153593044	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:153593044G>A	ENST00000422373.1	-	13	2120	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	FLNA_ENST00000360319.4_Silent_p.D624D|FLNA_ENST00000344736.4_Silent_p.D624D|FLNA_ENST00000369850.3_Silent_p.D624D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	624					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.D624D(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCCTTGTCGTCACATTCGA	0.632000													44	64					0	0	0.014410	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553584	140553584	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:140553584C>T	ENST00000231137.3	+	1	1342	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		390	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P390S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGATGTCCCCTTCATCCT	0.473000													44	34					0	0	0.008740	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38205058	38205058	+	Missense_Mutation	SNP	C	C	T	rs142206759		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:38205058C>T	ENST00000317025.8	-	2	1149	c.632G>A	c.(631-633)cGc>cAc	p.R211H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R211H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R211H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R211H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	211					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	p.R211H(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTGTGACTTGCGCTCTTCAGA	0.353000			T	NUP98	AML								47	160					0	0	0.014410	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878691	12878691	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:12878691T>A	ENST00000524591.2	+	5	992	c.503T>A	c.(502-504)cTc>cAc	p.L168H	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	168							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGTTCCCAGCTCTTCTCAGAG	0.512000													16	52					0	0	0.010504	0	0
VPS33A	65082	broad.mit.edu	37	12	122748723	122748723	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:122748723T>A	ENST00000267199.4	-	2	238	c.126A>T	c.(124-126)ctA>ctT	p.L42L	VPS33A_ENST00000451053.2_Silent_p.L42L|RP11-512M8.5_ENST00000535844.1_Silent_p.L42L|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	42					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.L42L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGGGTCCAGTTAGGTATTCAT	0.343000													49	208					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:7578433G>C	ENST00000420246.2	-	5	629	c.497C>G	c.(496-498)tCa>tGa	p.S166*	TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S166*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTGCTGTGACTGCTTGTA	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			66	47					0	0	0.014410	0	0
CENPN	55839	broad.mit.edu	37	16	81050942	81050942	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:81050942C>G	ENST00000305850.5	+	4	1019	c.229C>G	c.(229-231)Cat>Gat	p.H77D	RP11-303E16.3_ENST00000562315.1_RNA|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000569461.1_Intron|CENPN_ENST00000299572.5_Missense_Mutation_p.H77D|CENPN_ENST00000439957.3_Intron|CENPN_ENST00000428963.2_Missense_Mutation_p.H77D|CENPN_ENST00000393335.3_Missense_Mutation_p.H77D	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	77					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.H77D(3)		breast(1)|large_intestine(5)|lung(4)	10						TATGCAATTTCATCAGCACCA	0.333000													66	102					0	0	0.014410	0	0
GPC5	2262	broad.mit.edu	37	13	93518680	93518680	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:93518680C>T	ENST00000377067.3	+	8	2079	c.1707C>T	c.(1705-1707)ccC>ccT	p.P569P		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	569						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P569P(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTTACTTCCCGGGATTTGGT	0.433000													24	88					0	0	0.002780	0	0
ZNF283	284349	broad.mit.edu	37	19	44351558	44351558	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:44351558G>C	ENST00000324461.7	+	7	1102	c.805G>C	c.(805-807)Ggg>Cgg	p.G269R	ZNF283_ENST00000588797.1_Missense_Mutation_p.G130R	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G269R(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TAAGGAATGTGGGAAGACCTT	0.403000													8	65					0	0	0.003080	0	0
FBXW8	26259	broad.mit.edu	37	12	117426577	117426577	+	Missense_Mutation	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:117426577T>G	ENST00000455858.2	+	7	1017	c.944T>G	c.(943-945)cTt>cGt	p.L315R	FBXW8_ENST00000309909.5_Missense_Mutation_p.L381R	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	381							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		AGAACCCTCCTTTACGCCCAC	0.547000													8	403					0	0	0.003080	0	0
KCTD19	146212	broad.mit.edu	37	16	67338379	67338379	+	Silent	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:67338379T>C	ENST00000304372.5	-	3	451	c.396A>G	c.(394-396)acA>acG	p.T132T	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	132						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T132T(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACACTTCCATGTACGCCAGT	0.478000													91	145					0	0	0.014410	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631628	101631628	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:101631628G>A	ENST00000310954.6	-	1	625	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	113					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.L113L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGACGGCCAAGAGGCAGTAGT	0.632000													39	34					0	0	0.008740	0	0
RETSAT	54884	broad.mit.edu	37	2	85577260	85577260	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:85577260G>A	ENST00000295802.4	-	4	814	c.702C>T	c.(700-702)ttC>ttT	p.F234F	RETSAT_ENST00000457495.2_Silent_p.F173F|RETSAT_ENST00000263854.6_Silent_p.F234F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	234					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.L235F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	ATGCTTGAAGGAATGGAGAGA	0.582000													37	209					0	0	0.003755	0	0
HHEX	3087	broad.mit.edu	37	10	94452163	94452163	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:94452163C>G	ENST00000282728.5	+	2	2199	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	HHEX_ENST00000492654.2_5'UTR|HHEX_ENST00000472590.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	134					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	p.L134V(1)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						GCAGAGGCCTCTGCATAAAAG	0.602000													65	80					0	0	0.014410	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40630546	40630546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:40630546G>T	ENST00000343619.4	+	7	695	c.572G>T	c.(571-573)tGc>tTc	p.C191F	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.C198F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.C148F|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.C191F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.C148F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	191					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.C191F(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGGCGGGTATGCCGGGGAAAT	0.532000													7	106					0.00198382	0.00203535	0.001984	1	0
PCNT	5116	broad.mit.edu	37	21	47783764	47783764	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:47783764G>C	ENST00000359568.5	+	14	2631	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	842					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E842*(1)|p.E842K(1)|p.E842Q(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)					GTGTGGGCGGGAGCCGCCCAC	0.662000													107	88					0	0	0.014410	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328774	88328774	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:88328774G>T	ENST00000325089.6	+	2	1350	c.1131G>T	c.(1129-1131)gcG>gcT	p.A377A	SLITRK5_ENST00000400028.3_Silent_p.A136A	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	377	LRRNT.					integral to membrane		p.A377A(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTCCCACCGCGTGCTCTTGCA	0.577000													60	84					5.47352e-35	6.90013e-35	0.014410	1	0
RIN3	79890	broad.mit.edu	37	14	93118640	93118640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:93118640C>T	ENST00000216487.7	+	6	1405	c.1246C>T	c.(1246-1248)Caa>Taa	p.Q416*	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	416	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.Q416*(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTGCCTCCCCAAGGGACCTC	0.657000													23	69					0	0	0.003954	0	0
BAZ2A	11176	broad.mit.edu	37	12	56999683	56999683	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:56999683C>T	ENST00000179765.5	-	14	2533	c.2334G>A	c.(2332-2334)cgG>cgA	p.R778R	BAZ2A_ENST00000549884.1_Silent_p.R808R|BAZ2A_ENST00000379441.3_Silent_p.R780R|BAZ2A_ENST00000551812.1_Silent_p.R810R			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	810	Lys-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.R810R(4)|p.R846R(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCTGCCTCTGCCGTTCCTCCA	0.517000													8	14					0	0	0.006214	0	0
IFNL3	282617	broad.mit.edu	37	19	39734751	39734751	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:39734751A>G	ENST00000413851.2	-	3	343	c.305T>C	c.(304-306)cTg>cCg	p.L102P		NM_172139.2	NP_742151.2			interferon, lambda 3									p.L102P(1)									CAGAACCTTCAGCGTCAGGGC	0.652000													30	79					0	0	0.013726	0	0
KIF2A	3796	broad.mit.edu	37	5	61658358	61658358	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:61658358A>G	ENST00000381103.2	+	13	1534	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	KIF2A_ENST00000401507.3_Missense_Mutation_p.Y370C|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.Y324C|KIF2A_ENST00000407818.3_Missense_Mutation_p.Y370C	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	370	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTGAAATTTATAGTGGAAAG	0.264000													7	1					0	0	0.001984	0	0
LDHC	3948	broad.mit.edu	37	11	18456297	18456297	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:18456297G>C	ENST00000541669.1	+	5	540	c.429G>C	c.(427-429)ttG>ttC	p.L143F	LDHC_ENST00000546146.1_Missense_Mutation_p.L85F|LDHC_ENST00000280704.4_Missense_Mutation_p.L143F|LDHC_ENST00000544105.1_Missense_Mutation_p.L143F|LDHC_ENST00000535809.1_Missense_Mutation_p.L143F|LDHC_ENST00000536880.1_Missense_Mutation_p.L129F|LDHC_ENST00000537486.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	143					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.L143F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TGGATATTTTGACATATATAG	0.308000													28	152					0	0	0.012213	0	0
CCDC158	339965	broad.mit.edu	37	4	77247123	77247123	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:77247123G>C	ENST00000388914.3	-	22	3196	c.3044C>G	c.(3043-3045)tCt>tGt	p.S1015C		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1015	Ser-rich.							p.S1015C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCTTAGGAGAAGAATTGAA	0.358000													65	214					0	0	0.014410	0	0
NFXL1	152518	broad.mit.edu	37	4	47892633	47892633	+	Silent	SNP	T	T	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:47892633T>G	ENST00000507489.1	-	12	1716	c.1540A>C	c.(1540-1542)Aga>Cga	p.R514R	NFXL1_ENST00000381538.3_Silent_p.R514R|NFXL1_ENST00000329043.3_Silent_p.R514R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	514						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R514R(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTTTACCTCTGTGACAGACA	0.348000													11	40					0	0	0.010729	0	0
MSC	9242	broad.mit.edu	37	8	72754901	72754901	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:72754901C>T	ENST00000325509.4	-	2	905	c.616G>A	c.(616-618)Gct>Act	p.A206T	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	206					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A206T(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCGATTTAAGCGGTGGTTCCA	0.493000													182	606					0	0	0.014410	0	0
RGPD4	285190	broad.mit.edu	37	2	108487966	108487966	+	Missense_Mutation	SNP	A	A	G	rs832357		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:108487966A>G	ENST00000408999.3	+	20	3583	c.3506A>G	c.(3505-3507)cAg>cGg	p.Q1169R	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1169R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1169	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAATGCCAGCAGCTTCTGTTA	0.428000													4	1					0	0	0.004007	0	0
SLC27A1	376497	broad.mit.edu	37	19	17612097	17612097	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:17612097C>A	ENST00000252595.7	+	11	1749	c.1652C>A	c.(1651-1653)gCa>gAa	p.A551E	SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A372E|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A551E	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	551					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	p.A551E(4)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAGGGTAAGGCAGGGATGGCG	0.642000													40	18					1.76056e-25	2.17319e-25	0.011902	1	0
DCST1	149095	broad.mit.edu	37	1	155015885	155015885	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:155015885G>A	ENST00000295542.1	+	10	1168	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	DCST1_ENST00000392480.1_Missense_Mutation_p.E358K|DCST1_ENST00000368419.2_Missense_Mutation_p.E358K|DCST1_ENST00000423025.2_Missense_Mutation_p.E333K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	358						integral to membrane	zinc ion binding	p.E358K(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	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)			CGTGAGCACCGAGGTGCGGGA	0.667000													27	109					0	0	0.006320	0	0
COL11A1	1301	broad.mit.edu	37	1	103364245	103364245	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:103364245G>A	ENST00000358392.2	-	56	4578	c.4261C>T	c.(4261-4263)Ctt>Ttt	p.L1421F	COL11A1_ENST00000370096.3_Missense_Mutation_p.L1409F|COL11A1_ENST00000353414.4_Missense_Mutation_p.L1370F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L1293F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1409	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.L1409F(2)|p.L1421F(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGCCCCGAAGACCTTCTGGA	0.453000													43	69					0	0	0.014410	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:39296599T>C	ENST00000345847.4	-	1	140	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682000													14	125					0	0	0.002780	0	0
ITPR3	3710	broad.mit.edu	37	6	33632679	33632679	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:33632679C>A	ENST00000374316.5	+	13	2241	c.1181C>A	c.(1180-1182)aCc>aAc	p.T394N	ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	394	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.T394N(4)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACCTCTGCACCAACACGTGG	0.662000													24	48					2.48779e-11	2.72966e-11	0.005443	1	0
GALNT11	63917	broad.mit.edu	37	7	151818708	151818708	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:151818708C>T	ENST00000434507.1	+	14	2210	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V	RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000320311.2_Silent_p.V591V|GALNT11_ENST00000430044.2_Silent_p.V591V|GALNT11_ENST00000452146.2_Silent_p.V510V			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	591	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V591V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGGGCTCTGTCGCCATGGCGA	0.532000													27	72					0	0	0.007291	0	0
OR56A3	390083	broad.mit.edu	37	11	5969183	5969183	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:5969183C>A	ENST00000329564.6	+	1	614	c.607C>A	c.(607-609)Caa>Aaa	p.Q203K		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q203K(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTTTACCAATTTGCTGG	0.478000													31	210					4.74835e-14	5.35886e-14	0.010818	1	0
MSH2	4436	broad.mit.edu	37	2	47709956	47709956	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:47709956G>C	ENST00000233146.2	+	16	2896	c.2673G>C	c.(2671-2673)gtG>gtC	p.V891V	MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Silent_p.V825V|MSH2_ENST00000461394.1_Intron	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	891					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.V891V(2)|p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTCCAAGGTGAAACAAATGC	0.313000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	42					0	0	0.010729	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503320	140503320	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:140503320G>A	ENST00000194152.1	+	1	1740	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		580	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.E580E(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGGCCGAGCCGGGCTACC	0.697000													38	29					0	0	0.014410	0	0
ID3	3399	broad.mit.edu	37	1	23885762	23885762	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:23885762C>T	ENST00000374561.5	-	1	523	c.156G>A	c.(154-156)cgG>cgA	p.R52R	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	52	Helix-loop-helix motif.				negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	p.R52R(2)		central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GTACCAGTTCCCGCAGGCGGG	0.642000													32	144					0	0	0.004289	0	0
KPRP	448834	broad.mit.edu	37	1	152733114	152733114	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:152733114C>G	ENST00000368773.1	+	2	1108	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	KPRP_ENST00000606109.1_Missense_Mutation_p.I350M	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	350	Pro-rich.					cytoplasm		p.I350M(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCCATCAGACGCCGCT	0.652000													35	100					0	0	0.004878	0	0
CES1P1	51716	broad.mit.edu	37	16	55806422	55806422	+	RNA	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:55806422T>A	ENST00000571348.1	+	0	724					NR_003276.2																						GAGGAGAAAGTGTCTCTGTTC	0.557000													6	25					0	0	0.001984	0	0
DDX42	11325	broad.mit.edu	37	17	61869884	61869884	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:61869884G>A	ENST00000359353.5	+	0	300				DDX42_ENST00000583590.1_Missense_Mutation_p.D112N|DDX42_ENST00000578681.1_Missense_Mutation_p.D112N|DDX42_ENST00000457800.2_Missense_Mutation_p.D112N|DDX42_ENST00000389924.2_Missense_Mutation_p.D112N			Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.D112N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTCTGACAGCGATGATGATCC	0.398000													15	102					0	0	0.012319	0	0
PIGM	93183	broad.mit.edu	37	1	160001137	160001137	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:160001137C>G	ENST00000368090.2	-	1	646	c.393G>C	c.(391-393)tgG>tgC	p.W131C		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	131					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.W131C(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTAAGAAGCCAAAAGACAC	0.562000													12	22					0	0	0.004007	0	0
TSSK3	81629	broad.mit.edu	37	1	32829545	32829545	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:32829545G>C	ENST00000373534.3	+	2	1000	c.495G>C	c.(493-495)ctG>ctC	p.L165L	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	165	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L165L(2)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACCGGGAGCTGAGCCAGACCT	0.572000													54	102					0	0	0.014410	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227472	56227472	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr20:56227472G>A	ENST00000341744.3	-	4	820	c.501C>T	c.(499-501)ctC>ctT	p.L167L	PMEPA1_ENST00000265626.4_Silent_p.L117L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000347215.4_Silent_p.L132L|PMEPA1_ENST00000395814.1_Silent_p.L117L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	167					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.L167L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCGAAGCTGGAGGGTGCAGG	0.642000													14	68					0	0	0.001855	0	0
URB2	9816	broad.mit.edu	37	1	229794951	229794951	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:229794951G>A	ENST00000258243.2	+	10	4618	c.4482G>A	c.(4480-4482)caG>caA	p.Q1494Q		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1494						nucleolus		p.P1495S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCTCGCTGCAGCCGGGAATGA	0.502000													6	332					0	0	0.001168	0	0
FAM120B	84498	broad.mit.edu	37	6	170627094	170627094	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:170627094C>G	ENST00000476287.1	+	2	724	c.616C>G	c.(616-618)Ctc>Gtc	p.L206V	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.L229V|FAM120B_ENST00000540480.1_Missense_Mutation_p.L218V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	206					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.L206V(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CACCGTCATGCTCTGCAGAGA	0.527000													33	132					0	0	0.012213	0	0
GPR152	390212	broad.mit.edu	37	11	67219321	67219321	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:67219321G>T	ENST00000312457.2	-	1	879	c.875C>A	c.(874-876)cCc>cAc	p.P292H		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	292						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P292H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCAGAGGAAGGGGCTGAGGCA	0.652000													27	88					9.58827e-17	1.12496e-16	0.014410	1	0
S1PR1	1901	broad.mit.edu	37	1	101705580	101705580	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:101705580G>T	ENST00000305352.6	+	2	1415	c.1040G>T	c.(1039-1041)gGc>gTc	p.G347V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	347					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.G347V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ATCATCGCCGGCATGGAATTC	0.552000													61	242					1.82294e-38	2.32278e-38	0.014410	1	0
INTS2	57508	broad.mit.edu	37	17	59988888	59988888	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:59988888C>G	ENST00000444766.3	-	7	1046	c.971G>C	c.(970-972)gGa>gCa	p.G324A	INTS2_ENST00000251334.6_Missense_Mutation_p.G316A	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	324					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.G324A(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CACCTGCTGTCCATTTCGGAT	0.388000													26	30					0	0	0.004656	0	0
OSER1	51526	broad.mit.edu	37	20	42831602	42831602	+	Splice_Site	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr20:42831602C>A	ENST00000372970.2	-	5	370	c.191_splice	c.e5+1	p.G64_splice	OSER1_ENST00000255174.2_Splice_Site_p.G64_splice					oxidative stress responsive serine-rich 1									p.G64W(2)									AGCTCTTACCCGTGCCAACTG	0.383000													19	71					1.45105e-14	1.66941e-14	0.006122	1	0
LRCH4	4034	broad.mit.edu	37	7	100179736	100179736	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:100179736G>T	ENST00000310300.6	-	3	472	c.420C>A	c.(418-420)gtC>gtA	p.V140V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	140					nervous system development	PML body	protein binding	p.V140V(2)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGATGAGGACCCTCAGGG	0.637000													27	61					5.77227e-19	6.94431e-19	0.008361	1	0
FAM184A	79632	broad.mit.edu	37	6	119345909	119345909	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:119345909C>T	ENST00000338891.7	-	2	672	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.E77K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_5'UTR|FAM184A_ENST00000352896.5_5'UTR	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	77								p.E77K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTTCTTCTTCATGAGCATCT	0.338000													33	21					0	0	0.010818	0	0
KCNK18	338567	broad.mit.edu	37	10	118969302	118969302	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:118969302C>A	ENST00000334549.1	+	3	647	c.647C>A	c.(646-648)aCa>aAa	p.T216K		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	216						integral to membrane|plasma membrane		p.T216K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAACTTGGCACATGTCCTTCA	0.527000													48	130					3.16986e-14	3.62926e-14	0.014410	1	0
URB2	9816	broad.mit.edu	37	1	229794952	229794952	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:229794952C>T	ENST00000258243.2	+	10	4619	c.4483C>T	c.(4483-4485)Ccg>Tcg	p.P1495S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1495						nucleolus		p.P1495S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTCGCTGCAGCCGGGAATGAG	0.502000													6	334					0	0	0.001168	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134066	233134066	+	Missense_Mutation	SNP	T	T	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:233134066T>C	ENST00000258229.8	-	32	5956	c.5722A>G	c.(5722-5724)Agc>Ggc	p.S1908G	PCNXL2_ENST00000344698.2_Missense_Mutation_p.S560G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1908						integral to membrane		p.S1908G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGTTCTGCGCTGCTCTCCTGG	0.632000													12	56					0	0	0.010729	0	0
ZNF208	7757	broad.mit.edu	37	19	22154332	22154332	+	Silent	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:22154332G>T	ENST00000397126.4	-	4	3652	c.3504C>A	c.(3502-3504)ccC>ccA	p.P1168P	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P1040P(4)|p.P1168P(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTTGTAGGGTTTCTCTA	0.363000													20	16					3.51602e-12	3.89391e-12	0.008871	1	0
DLX1	1745	broad.mit.edu	37	2	172952956	172952956	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:172952956G>C	ENST00000361725.4	+	3	1191	c.739G>C	c.(739-741)Gaa>Caa	p.E247Q	DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	247						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGCGCACCAAGAAGCTATGCA	0.617000													7	342					0	0	0.004482	0	0
OR4C11	219429	broad.mit.edu	37	11	55371624	55371624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:55371624C>A	ENST00000302231.4	-	1	250	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A76S(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATCTAGGGGCTGTGGAAGTT	0.398000													36	20					6.90743e-12	7.61423e-12	0.003755	1	0
LSMD1	84316	broad.mit.edu	37	17	7760666	7760666	+	Missense_Mutation	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:7760666T>A	ENST00000333775.5	-	1	506	c.76A>T	c.(76-78)Agt>Tgt	p.S26C	LSMD1_ENST00000575208.1_Intron|LSMD1_ENST00000575771.1_Intron|LSMD1_ENST00000335155.5_Intron|LSMD1_ENST00000575071.1_Intron|LSMD1_ENST00000576861.1_Intron	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	0						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GCTGCTTGACTGCCCCTCAGT	0.652000													83	48					0	0	0.014410	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431299	140431299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:140431299G>C	ENST00000306549.3	+	1	321	c.244G>C	c.(244-246)Gga>Cga	p.G82R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		82	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G82R(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCAAGACGGGAGATTTGTT	0.572000													22	61					0	0	0.014323	0	0
JADE3	9767	broad.mit.edu	37	X	46913983	46913983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:46913983C>T	ENST00000218343.4	+	9	1694	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	PHF16_ENST00000397189.1_Missense_Mutation_p.H466Y	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		466					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.H466Y(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGAAAGCATTCACACTCGAAT	0.453000													18	16					0	0	0.004990	0	0
FMO3	2328	broad.mit.edu	37	1	171083381	171083381	+	Missense_Mutation	SNP	A	A	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:171083381A>C	ENST00000367755.4	+	7	1173	c.1062A>C	c.(1060-1062)aaA>aaC	p.K354N	FMO3_ENST00000392085.2_Missense_Mutation_p.K354N|FMO3_ENST00000542847.1_Missense_Mutation_p.K334N|FMO3_ENST00000538429.1_Missense_Mutation_p.K291N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	354					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.K354N(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTTATTTAAAGGAGTATTTC	0.443000													25	81					0	0	0.003954	0	0
LRP5	4041	broad.mit.edu	37	11	68115636	68115636	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:68115636A>G	ENST00000294304.7	+	2	519	c.413A>G	c.(412-414)aAt>aGt	p.N138S		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	138	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.N138S(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCAACCTCAATGGCACATCC	0.647000													112	190					0	0	0.014410	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622174	74622174	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:74622174G>A	ENST00000156626.7	-	7	1618	c.1419C>T	c.(1417-1419)caC>caT	p.H473H		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	473					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.H473H(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CCTGGGGTCTGTGCCTGTGGT	0.547000													60	227					0	0	0.014410	0	0
FSIP2	401024	broad.mit.edu	37	2	186678562	186678562	+	Silent	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:186678562G>C	ENST00000343098.5	+	18	20385	c.20385G>C	c.(20383-20385)acG>acC	p.T6795T	FSIP2_ENST00000424728.1_Silent_p.T6706T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.T1404T(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CACTAAGCACGAGCAGCCTGA	0.358000													33	13					0	0	0.013726	0	0
COL7A1	1294	broad.mit.edu	37	3	48626185	48626185	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:48626185G>C	ENST00000328333.8	-	19	2584	c.2477C>G	c.(2476-2478)aCa>aGa	p.T826R	COL7A1_ENST00000454817.1_Missense_Mutation_p.T826R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	826	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCAGAGTCTGTGTTTCCTGG	0.607000													52	55					0	0	0.014410	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626979	108626979	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:108626979G>A	ENST00000264047.2	+	9	1681	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N	SLC5A7_ENST00000540517.1_Missense_Mutation_p.D364N|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D469N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	469					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D469N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTACCCTGATGATAATGGTAT	0.398000													16	114					0	0	0.004007	0	0
HERC1	8925	broad.mit.edu	37	15	64045267	64045267	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:64045267C>A	ENST00000443617.2	-	8	1879	c.1792G>T	c.(1792-1794)Gat>Tat	p.D598Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	598					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.D598Y(4)		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						CTGTTGGTATCACCATGACCA	0.343000													10	53					7.48243e-07	7.95218e-07	0.006214	1	0
KRT74	121391	broad.mit.edu	37	12	52967174	52967174	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:52967174C>T	ENST00000549343.1	-	1	426	c.388G>A	c.(388-390)Gac>Aac	p.D130N	KRT74_ENST00000305620.2_Missense_Mutation_p.D130N			Q7RTS7	K2C74_HUMAN	keratin 74	130	Head.					keratin filament	structural molecule activity	p.D130N(2)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATCTCAGGGTCCAGCTCCACG	0.602000													39	230					0	0	0.010771	0	0
SRSF11	9295	broad.mit.edu	37	1	70687463	70687463	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:70687463G>C	ENST00000370950.3	+	2	226	c.144G>C	c.(142-144)caG>caC	p.Q48H	SRSF11_ENST00000405432.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000370951.1_Missense_Mutation_p.Q48H|SRSF11_ENST00000454435.2_Missense_Mutation_p.Q48H|SRSF11_ENST00000436161.2_Missense_Mutation_p.Q48H			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	48	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.Q48H(2)		large_intestine(3)|ovary(2)|skin(1)	6						GCTCTGAGCAGATGCGGACTC	0.647000													101	109					0	0	0.014410	0	0
TNN	63923	broad.mit.edu	37	1	175049473	175049473	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:175049473G>T	ENST00000239462.4	+	4	1072	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	320	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G320V(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGATTCTTGGTTTGCTGCCT	0.537000													39	136					2.40579e-17	2.85086e-17	0.006230	1	0
FAM47B	170062	broad.mit.edu	37	X	34962140	34962140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chrX:34962140C>T	ENST00000329357.5	+	1	1228	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	398								p.R398C(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCCCCATCTCCGCCTGGTGCT	0.582000													47	18					0	0	0.014410	0	0
MROH7	374977	broad.mit.edu	37	1	55175634	55175634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:55175634G>A	ENST00000421030.2	+	24	4031	c.3746G>A	c.(3745-3747)aGa>aAa	p.R1249K	MROH7_ENST00000409996.1_Missense_Mutation_p.R817K|MROH7_ENST00000454855.2_Missense_Mutation_p.R767K|MROH7_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553.2			maestro heat-like repeat family member 7									p.R1246K(2)|p.R1249K(2)									GATAACTTGAGACATGACCCA	0.572000													25	116					0	0	0.006320	0	0
ZNF852	285346	broad.mit.edu	37	3	44541963	44541963	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:44541963G>A	ENST00000436261.1	-	4	466	c.306C>T	c.(304-306)ccC>ccT	p.P102P	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	102					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P102P(4)|p.P52P(2)		endometrium(2)|kidney(1)|lung(5)	8						CTTCATTTGAGGGTTGTCCTT	0.408000													27	17					0	0	0.004656	0	0
C9orf131	138724	broad.mit.edu	37	9	35042966	35042966	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:35042966C>A	ENST00000312292.5	+	2	387	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	C9orf131_ENST00000354479.5_Missense_Mutation_p.L41M|C9orf131_ENST00000421362.2_Missense_Mutation_p.L66M	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	114								p.L114M(2)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			cgaggCATCTCTGGATCCACT	0.557000													54	43					2.01872e-29	2.5049e-29	0.014410	1	0
FSCB	84075	broad.mit.edu	37	14	44974297	44974297	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:44974297C>A	ENST00000340446.4	-	1	2185	c.1894G>T	c.(1894-1896)Gct>Tct	p.A632S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	632	Ala-rich.					cilium		p.A632S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.637000													11	231					1.10513e-12	1.22966e-12	0.014323	1	0
SHKBP1	92799	broad.mit.edu	37	19	41086690	41086690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:41086690G>T	ENST00000291842.5	+	9	741	c.692G>T	c.(691-693)aGc>aTc	p.S231I	SHKBP1_ENST00000600733.1_Missense_Mutation_p.S231I	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	231						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S231I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGTTTTCCAGCCCCCGCCTG	0.632000													73	143					2.43199e-30	3.04964e-30	0.014410	1	0
ATMIN	23300	broad.mit.edu	37	16	81069732	81069732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:81069732G>T	ENST00000299575.4	+	1	281	c.257G>T	c.(256-258)tGc>tTc	p.C86F		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	86					response to DNA damage stimulus	nucleus	zinc ion binding	p.C86F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AACATCCTGTGCACCGTGCGC	0.736000													8	32					0.000157383	0.000162881	0.003080	1	0
PLXND1	23129	broad.mit.edu	37	3	129308193	129308193	+	Splice_Site	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:129308193C>T	ENST00000393239.1	-	2	1667		c.e2+1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACCATACCTACCTTGAGAAGC	0.667000													10	27					0	0	0.001855	0	0
LGI1	9211	broad.mit.edu	37	10	95549856	95549856	+	Splice_Site	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr10:95549856G>T	ENST00000371418.4	+	5	692	c.431_splice	c.e5-1	p.L144_splice	LGI1_ENST00000371413.3_Splice_Site_p.L144_splice|LGI1_ENST00000542308.1_Splice_Site_p.L96_splice	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	144					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.L144F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTTTTTCCAGGAGCCTTGCAA	0.338000													9	33					2.17888e-05	2.27486e-05	0.006214	1	0
FTH1P3	2498	broad.mit.edu	37	5	17354234	17354234	+	RNA	SNP	C	C	T	rs2652638	by1000genomes	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:17354234C>T	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							CACACTCCATCGCATTCAGCC	0.468000													6	167					0	0	0.002450	0	0
C1orf222	339457	broad.mit.edu	37	1	1920356	1920356	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:1920356C>T	ENST00000434971.2	-	3	156	c.124G>A	c.(124-126)Gag>Aag	p.E42K				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	0								p.E42K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGTCATCCTCAGCTTCCTGT	0.532000													12	59					0	0	0.004990	0	0
MYO7B	4648	broad.mit.edu	37	2	128366435	128366435	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:128366435G>A	ENST00000389524.4	+	22	2849	c.2796G>A	c.(2794-2796)caG>caA	p.Q932Q	MYO7B_ENST00000428314.1_Silent_p.Q932Q|MYO7B_ENST00000409816.2_Silent_p.Q932Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	932						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.Q932Q(4)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGAGGGCCAGGCCTCGCCGC	0.622000													15	20					0	0	0.014323	0	0
SPAM1	6677	broad.mit.edu	37	7	123599915	123599915	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:123599915G>A	ENST00000340011.5	+	5	1779	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	SPAM1_ENST00000460182.1_Silent_p.E474E|SPAM1_ENST00000223028.7_Silent_p.E474E|SPAM1_ENST00000439500.1_Silent_p.E474E|SPAM1_ENST00000402183.2_Silent_p.E474E	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	474					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.E474E(4)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCCCATGGAGACAGAAGAAC	0.383000													16	46					0	0	0.004007	0	0
KCNH7	90134	broad.mit.edu	37	2	163253285	163253285	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:163253285C>G	ENST00000332142.5	-	11	2677	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	860					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.E860Q(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAAGTCAACTCTAGGTTTGTT	0.363000													16	22					0	0	0.004007	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080108	57080108	+	Missense_Mutation	SNP	A	A	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:57080108A>G	ENST00000532437.1	-	4	2365	c.2054T>C	c.(2053-2055)cTg>cCg	p.L685P	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L685P			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	685	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.L685P(2)		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)				GAGGTCGTCCAGCCAGCGGGA	0.647000													47	78					0	0	0.014410	0	0
ABCA8	10351	broad.mit.edu	37	17	66933233	66933233	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr17:66933233C>G	ENST00000269080.2	-	4	462	c.325G>C	c.(325-327)Gat>Cat	p.D109H	ABCA8_ENST00000586539.1_Missense_Mutation_p.D109H|ABCA8_ENST00000430352.2_Missense_Mutation_p.D109H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	109						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D109H(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTTTCCTCATCTGGCAGTCCC	0.338000													21	29					0	0	0.008871	0	0
POLR1A	25885	broad.mit.edu	37	2	86305044	86305044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:86305044C>T	ENST00000263857.6	-	11	1696	c.1318G>A	c.(1318-1320)Gct>Act	p.A440T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A440T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	440				YA -> ST (in Ref. 1; AAC99959).	termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.A440T(2)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGCGCGCAGCGTAGTCCACT	0.453000													48	215					0	0	0.014410	0	0
SLC35A1	10559	broad.mit.edu	37	6	88218187	88218187	+	Silent	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:88218187G>A	ENST00000369552.4	+	6	651	c.624G>A	c.(622-624)gtG>gtA	p.V208V	SLC35A1_ENST00000369556.3_Intron|SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Intron|SLC35A1_ENST00000544441.1_Silent_p.V74V	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	208					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity	p.V208V(2)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTTTGGGTGAGAAACATTC	0.294000													16	14					0	0	0.010504	0	0
PI15	51050	broad.mit.edu	37	8	75756265	75756265	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:75756265G>A	ENST00000260113.2	+	3	502	c.323G>A	c.(322-324)tGc>tAc	p.C108Y	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.C108Y	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	108						extracellular region	peptidase inhibitor activity	p.C108Y(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GCGGCTACTTGCATTTGGGAC	0.428000													29	128					0	0	0.008361	0	0
ZNF566	84924	broad.mit.edu	37	19	36967453	36967453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:36967453G>A	ENST00000454319.1	-	2	141	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000472909.2_5'UTR|ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3*	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q3*(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TATCTCACCTGAGCCATGGCT	0.398000													13	66					0	0	0.001855	0	0
SPACA1	81833	broad.mit.edu	37	6	88773828	88773828	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:88773828A>T	ENST00000237201.1	+	6	739	c.622A>T	c.(622-624)Aga>Tga	p.R208*	SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	208						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		ATTGCAGATGAGAAGATCAAG	0.323000													5	54					0	0	0.000602	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348204	77348204	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:77348204A>T	ENST00000561277.1	-	0	311				TSPAN3_ENST00000558394.1_Intron|TSPAN3_ENST00000558745.1_De_novo_Start_OutOfFrame|TSPAN3_ENST00000424443.3_Splice_Site_p.F22_splice|TSPAN3_ENST00000267970.4_Splice_Site_p.F86_splice|TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000346495.2_Intron			O60637	TSN3_HUMAN	tetraspanin 3							integral to membrane		p.F86Y(2)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GATGATGACAAACTGTAAGAA	0.289000													41	86					0	0	0.007835	0	0
PI15	51050	broad.mit.edu	37	8	75756266	75756266	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:75756266C>T	ENST00000260113.2	+	3	503	c.324C>T	c.(322-324)tgC>tgT	p.C108C	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Silent_p.C108C	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	108						extracellular region	peptidase inhibitor activity	p.C108Y(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CGGCTACTTGCATTTGGGACC	0.433000													29	128					0	0	0.007291	0	0
LRP2	4036	broad.mit.edu	37	2	170148767	170148767	+	Silent	SNP	T	T	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:170148767T>A	ENST00000263816.3	-	7	1050	c.765A>T	c.(763-765)ggA>ggT	p.G255G	LRP2_ENST00000443831.1_Silent_p.G255G	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	255	LDL-receptor class A 6.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G255G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCTTACCACATCCATCTTCAT	0.418000													20	126					0	0	0.002780	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894884	139894884	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:139894884C>T	ENST00000458420.3	+	2	391	c.201C>T	c.(199-201)gcC>gcT	p.A67A		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	67	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A67A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACTGGTAGCCCTGGATAAAG	0.468000										HNSCC(16;0.037)			8	108					0	0	0.004482	0	0
RBM15	64783	broad.mit.edu	37	1	110882847	110882847	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:110882847G>A	ENST00000369784.3	+	1	1720	c.820G>A	c.(820-822)Ggg>Agg	p.G274R	RBM15_ENST00000487146.2_Missense_Mutation_p.G274R|RBM15_ENST00000602849.1_Missense_Mutation_p.G274R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	274					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.G274R(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGTGTGGTCGGGGCCTCTGT	0.597000			T	MKL1	acute megakaryocytic leukemia								54	178					0	0	0.014410	0	0
OCA2	4948	broad.mit.edu	37	15	28211923	28211923	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:28211923A>T	ENST00000354638.3	-	15	1704	c.1549T>A	c.(1549-1551)Tgc>Agc	p.C517S	OCA2_ENST00000382996.2_Missense_Mutation_p.C517S|OCA2_ENST00000353809.5_Missense_Mutation_p.C493S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	517					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.C517S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAACAAGGCAAATCCCAATG	0.493000									Oculocutaneous Albinism				20	47					0	0	0.012319	0	0
RECK	8434	broad.mit.edu	37	9	36112407	36112407	+	Missense_Mutation	SNP	A	A	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:36112407A>T	ENST00000377966.3	+	16	2560	c.1994A>T	c.(1993-1995)cAg>cTg	p.Q665L		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	665	Kazal-like 1.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	p.Q665L(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CAAGACCATCAGTTTGAGTTT	0.463000													43	68					0	0	0.014410	0	0
EPRS	2058	broad.mit.edu	37	1	220170591	220170591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:220170591C>A	ENST00000366923.3	-	18	2544	c.2275G>T	c.(2275-2277)Gtt>Ttt	p.V759F	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	759	Glutamyl-tRNA synthetase.|WHEP-TRS 1.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.V759F(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCTCCTTGAACAGCCACTCTA	0.388000													34	36					3.90053e-15	4.53149e-15	0.012213	1	0
RASAL1	8437	broad.mit.edu	37	12	113559391	113559391	+	Missense_Mutation	SNP	C	C	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:113559391C>G	ENST00000546530.1	-	6	636	c.351G>C	c.(349-351)caG>caC	p.Q117H	RASAL1_ENST00000261729.5_Missense_Mutation_p.Q117H|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q117H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q117H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	117					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.Q117H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGATCTCACCCTGCACTTCTG	0.562000													99	105					0	0	0.014410	0	0
OCA2	4948	broad.mit.edu	37	15	28202874	28202874	+	Missense_Mutation	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:28202874C>A	ENST00000354638.3	-	16	1799	c.1644G>T	c.(1642-1644)aaG>aaT	p.K548N	OCA2_ENST00000382996.2_Missense_Mutation_p.K548N|OCA2_ENST00000353809.5_Missense_Mutation_p.K524N	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	548					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.K548N(2)|p.K548K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAATCTCGTGCTTCAGTTCTG	0.612000									Oculocutaneous Albinism				34	56					1.414e-09	1.53724e-09	0.003755	1	0
DST	667	broad.mit.edu	37	6	56480781	56480781	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:56480781C>T	ENST00000370765.6	-	24	7591	c.7484G>A	c.(7483-7485)gGc>gAc	p.G2495D	DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1791					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTACTTTTTGCCAGTAAGAGG	0.507000													5	152					0	0	0.001168	0	0
EPRS	2058	broad.mit.edu	37	1	220156531	220156531	+	Splice_Site	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:220156531C>T	ENST00000366923.3	-	22	3569	c.3300_splice	c.e22+1	p.E1100_splice		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1100	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.E1100E(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GCTCACTTACCTCTGGGGCAA	0.343000													46	54					0	0	0.013114	0	0
HNRNPC	3183	broad.mit.edu	37	14	21699132	21699132	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:21699132G>A	ENST00000320084.7	-	3	580	c.341C>T	c.(340-342)cCg>cTg	p.P114L	HNRNPC_ENST00000336053.6_Intron|HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P114L|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000553753.1_Intron|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P114L|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000555914.1_Intron	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	114						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	p.P114L(1)		breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TAGAGGGGACGGAGAAGGGTG	0.478000													19	168					0	0	0.007413	0	0
RTBDN	83546	broad.mit.edu	37	19	12939476	12939476	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:12939476C>T	ENST00000393233.2	-	5	785	c.236G>A	c.(235-237)aGg>aAg	p.R79K	CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000458671.2_Silent_p.Q120Q|RTBDN_ENST00000592204.1_Silent_p.Q130Q|RTBDN_ENST00000322912.5_Silent_p.Q152Q|RTBDN_ENST00000589272.1_Silent_p.Q152Q	NM_001270440.1	NP_001257369.1	Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region		p.Q152Q(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCTACCAGGCCTGGCAGAGCT	0.647000													20	55					0	0	0.003954	0	0
BAGE2	85319	broad.mit.edu	37	21	11039045	11039045	+	RNA	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:11039045G>C	ENST00000470054.1	-	0	1158									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)		AGTCATTTCAGAGTCCATCAA	0.373000													30	420					0	0	0.008361	0	0
MYCBP2	23077	broad.mit.edu	37	13	77847609	77847609	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr13:77847609G>C	ENST00000407578.2	-	5	1209	c.943C>G	c.(943-945)Cag>Gag	p.Q315E	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q277E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q277E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.Q277E(4)|p.Q315E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGAAATACCTGAATAGTTTGG	0.398000													14	45					0	0	0.004990	0	0
KLHL25	64410	broad.mit.edu	37	15	86311732	86311732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:86311732G>T	ENST00000337975.5	-	2	1584	c.1310C>A	c.(1309-1311)gCc>gAc	p.A437D	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.A437D	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	437						cytoplasm		p.A437D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACCACTGCGGCATTGCTGAC	0.587000													33	130					4.74835e-14	5.35886e-14	0.010818	1	0
DRD2	1813	broad.mit.edu	37	11	113286252	113286252	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:113286252G>T	ENST00000362072.3	-	5	958	c.614C>A	c.(613-615)aCc>aAc	p.T205N	DRD2_ENST00000538967.1_Missense_Mutation_p.T205N|DRD2_ENST00000346454.3_Missense_Mutation_p.T205N|DRD2_ENST00000544518.1_Missense_Mutation_p.T204N|DRD2_ENST00000542968.1_Missense_Mutation_p.T205N|DRD2_ENST00000355319.2_Missense_Mutation_p.T205N|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	205					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.T205N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GACCAGCAGGGTGACAATGAA	0.592000													72	125					1.79293e-35	2.27233e-35	0.014410	1	0
TOMM70A	9868	broad.mit.edu	37	3	100100548	100100548	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:100100548C>A	ENST00000284320.5	-	5	1243	c.795G>T	c.(793-795)acG>acT	p.T265T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	265					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.T265T(2)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGATATCATCCGTGAAAGAAC	0.378000													42	59					6.45866e-13	7.22029e-13	0.008740	1	0
TTBK1	84630	broad.mit.edu	37	6	43225669	43225669	+	Silent	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:43225669C>T	ENST00000259750.4	+	10	1064	c.981C>T	c.(979-981)ccC>ccT	p.P327P	TTBK1_ENST00000304139.5_Silent_p.P276P	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	327						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.P327P(1)		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)			CTACCCCGCCCCAGCAGAACA	0.627000													44	31					0	0	0.014410	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747039	26747039	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr22:26747039G>T	ENST00000529632.2	+	12	2625	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G810V|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G810V|SEZ6L_ENST00000411842.2_Missense_Mutation_p.G7V|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G583V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G810V|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G583V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	810	Sushi 4.					endoplasmic reticulum membrane|integral to membrane		p.G810V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACCGACCCCGGAGAGGTGGAT	0.527000													31	214					9.8876e-21	1.20172e-20	0.004878	1	0
CEP57	9702	broad.mit.edu	37	11	95546154	95546154	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:95546154G>C	ENST00000325542.5	+	3	499	c.261G>C	c.(259-261)agG>agC	p.R87S	CEP57_ENST00000537677.1_Missense_Mutation_p.R60S|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.R87S|CEP57_ENST00000538658.1_Missense_Mutation_p.R87S|CEP57_ENST00000541150.1_Missense_Mutation_p.R78S	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	87	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	p.R87S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTTGAGAGGATTCAGGCAG	0.368000									Mosaic Variegated Aneuploidy Syndrome				26	124					0	0	0.003330	0	0
KIAA1456	57604	broad.mit.edu	37	8	12878692	12878692	+	Silent	SNP	C	C	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr8:12878692C>A	ENST00000524591.2	+	5	993	c.504C>A	c.(502-504)ctC>ctA	p.L168L	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	168							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTTCCCAGCTCTTCTCAGAGT	0.507000													16	53					1.96292e-10	2.14384e-10	0.010504	1	0
PIGG	54872	broad.mit.edu	37	4	515659	515659	+	Missense_Mutation	SNP	G	G	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:515659G>C	ENST00000453061.2	+	8	1649	c.1543G>C	c.(1543-1545)Gcc>Ccc	p.A515P	PIGG_ENST00000504346.1_Missense_Mutation_p.A426P|PIGG_ENST00000509768.1_Missense_Mutation_p.A426P|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.A382P|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.A507P	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	515					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	p.A507P(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GATGGTGCTGGCCTCGGCGCT	0.587000													30	81					0	0	0.009535	0	0
ZNF141	7700	broad.mit.edu	37	4	367007	367007	+	Missense_Mutation	SNP	G	G	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:367007G>A	ENST00000240499.7	+	4	930	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	261					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.G261S(2)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TGAAGAATGTGGCAAAGCCTT	0.368000													91	81					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237995884	237995884	+	Missense_Mutation	SNP	G	G	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:237995884G>T	ENST00000366574.2	+	105	15158	c.14841G>T	c.(14839-14841)agG>agT	p.R4947S	RYR2_ENST00000360064.6_Missense_Mutation_p.R4953S|RYR2_ENST00000542537.1_Missense_Mutation_p.R4931S|RYR2_ENST00000462585.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAAGAAAGGTGTTGGGAAT	0.388000													17	21					8.34094e-07	8.78579e-07	0.008871	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													4	104					0	0	0.000602	0	0
EXPH5	23086	broad.mit.edu	37	11	108380461	108380461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr11:108380461C>T	ENST00000265843.4	-	6	5883	c.5773G>A	c.(5773-5775)Gat>Aat	p.D1925N	EXPH5_ENST00000525344.1_Missense_Mutation_p.D1918N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D1737N|EXPH5_ENST00000428840.1_Missense_Mutation_p.D1849N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1925					intracellular protein transport		Rab GTPase binding	p.D1925N(2)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCCTCAAATCATCTTTTAGG	0.408000													47	64					0	0	0.010771	0	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													12	711	---	---	---	---					
EIF4G3	8672	broad.mit.edu	37	1	21306904	21306905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:21306904_21306905insG	ENST00000602326.1	-	8	851_852	c.268_269insC	c.(268-270)acafs	p.T90fs	EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.T90fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.T94fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.T83fs|EIF4G3_ENST00000264211.8_Frame_Shift_Ins_p.T83fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	83					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGATATTGTTGGGGGGGCCCA	0.441													8	73	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23417944	23417945	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:23417944_23417945insG	ENST00000302291.4	-	4	3611_3612	c.2810_2811insC	c.(2809-2811)cacfs	p.H937fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTATTCGAGTTGGGGGGTCTTC	0.495													13	894	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													11	585	---	---	---	---					
FABP3	2170	broad.mit.edu	37	1	31842272	31842273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:31842272_31842273insC	ENST00000373713.2	-	2	266_267	c.205_206insG	c.(205-207)ggafs	p.G69fs	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	69					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		ATCGAACTCCACCCCCAACTTA	0.475													7	1664	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													8	127	---	---	---	---					
AGO4	192670	broad.mit.edu	37	1	36306816	36306817	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:36306816_36306817insC	ENST00000373210.3	+	14	2020_2021	c.1775_1776insC	c.(1774-1776)cccfs	p.P592fs		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GATGTCACACACCCCCCAGCAG	0.554													7	320	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													9	190	---	---	---	---					
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)aaafs	p.K304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411													9	432	---	---	---	---					
KDM4A	9682	broad.mit.edu	37	1	44156564	44156565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:44156564_44156565insC	ENST00000372396.3	+	14	2220_2221	c.2086_2087insC	c.(2086-2088)cccfs	p.P696fs		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	696					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TTCAGATTTAGCCCCCCAGAAG	0.470													11	400	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													10	1208	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													17	271	---	---	---	---					
C1orf168	199920	broad.mit.edu	37	1	57219538	57219538	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:57219538delC	ENST00000343433.6	-	8	1281	c.1201delG	c.(1201-1203)aafs	p.E401fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	401										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						GAATATGGTTCCTTTTCTGTG	0.353													97	407	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													13	331	---	---	---	---					
INADL	10207	broad.mit.edu	37	1	62253579	62253580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:62253579_62253580insC	ENST00000371158.2	+	8	1117_1118	c.1003_1004insC	c.(1003-1005)cccfs	p.P335fs	INADL_ENST00000316485.6_Frame_Shift_Ins_p.P335fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	335					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTTCAGTCACCCCCCCTGCC	0.505													7	131	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													9	297	---	---	---	---					
C1orf173	127254	broad.mit.edu	37	1	75036818	75036819	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:75036818_75036819insG	ENST00000326665.5	-	14	4793_4794	c.4575_4576insC	c.(4573-4578)ccacaafs	p.Q1526fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1526										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGCACGTTGTTGGGGGAAACAT	0.515													7	2058	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													7	225	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													9	135	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													30	455	---	---	---	---					
NTNG1	22854	broad.mit.edu	37	1	107866959	107866960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:107866959_107866960insC	ENST00000370067.1	+	3	929_930	c.302_303insC	c.(301-303)cccfs	p.P101fs	NTNG1_ENST00000370065.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370074.4_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370061.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000542803.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370066.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370071.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370070.2_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370072.3_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000370068.1_Frame_Shift_Ins_p.P101fs|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Frame_Shift_Ins_p.P101fs			Q9Y2I2	NTNG1_HUMAN	netrin G1	101	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGCTGGCACACCCCCCTGAGC	0.485													8	776	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													40	685	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000491700.1_3'UTR			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													7	276	---	---	---	---					
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)del	p.T550del	TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	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)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid								9	1336	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													7	435	---	---	---	---					
C1orf51	148523	broad.mit.edu	37	1	150259011	150259012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:150259011_150259012insC	ENST00000290363.5	+	5	1252_1253	c.803_804insC	c.(802-804)accfs	p.T268fs	C1orf51_ENST00000369094.1_Frame_Shift_Ins_p.T180fs|C1orf51_ENST00000369095.1_Frame_Shift_Ins_p.T268fs	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	268										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAATTTGCAACCCCCCTCTCA	0.520													7	668	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													7	300	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													17	272	---	---	---	---					
SPRR1A	6698	broad.mit.edu	37	1	152957687	152957688	+	Splice_Site	INS	-	-	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:152957687_152957688insA	ENST00000307122.2	+	2	45_46		c.e2-1			NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A						keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTGTCTCTAGAAAAAAACACA	0.441													8	477	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					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			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													9	813	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													10	382	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													11	2062	---	---	---	---					
RCSD1	92241	broad.mit.edu	37	1	167654710	167654711	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:167654710_167654711insC	ENST00000367854.3	+	3	492_493	c.161_162insC	c.(160-162)tccfs	p.S54fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554													14	142	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													12	457	---	---	---	---					
MROH9	80133	broad.mit.edu	37	1	170940907	170940907	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:170940907delT	ENST00000367759.4	+	8	653	c.499delT	c.(499-501)gtfs	p.C167fs	MROH9_ENST00000367758.3_Frame_Shift_Del_p.C167fs	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TGATGCTCCATGTTTGGGTCT	0.418													7	1530	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													7	294	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													8	425	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													24	195	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052693	205052694	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:205052693_205052694insC	ENST00000367167.3	-	1	951_952	c.755_756insG	c.(754-756)gctfs	p.A252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCTGCAGGCCCCCCCTTAG	0.540													13	299	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													8	397	---	---	---	---					
KCNS3	3790	broad.mit.edu	37	2	18112337	18112338	+	Frame_Shift_Ins	INS	-	-	G	rs35579067		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:18112337_18112338insG	ENST00000403915.1	+	3	513_514	c.62_63insG	c.(61-63)gggfs	p.G21fs	KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.G21fs|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	21					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCTGAATGTGGGGGGCTTTA	0.535													7	599	---	---	---	---					
XDH	7498	broad.mit.edu	37	2	31625970	31625971	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:31625970_31625971insC	ENST00000379416.3	-	3	188_189	c.140_141insG	c.(139-141)gtgfs	p.V47fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	47	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAGCCCCGCAGCCCCCCTCTCC	0.574													8	634	---	---	---	---					
MSH6	2956	broad.mit.edu	37	2	48030796	48030797	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:48030796_48030797insG	ENST00000234420.4	+	5	3562_3563	c.3410_3411insG	c.(3409-3411)aggfs	p.R1137fs	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs|MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1137					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCAAATATGGGGGGCAAGT	0.376			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	789	---	---	---	---					
FSHR	2492	broad.mit.edu	37	2	49217718	49217718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:49217718delG	ENST00000406846.2	-	5	552	c.433delC	c.(433-435)aafs	p.Q145fs	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Frame_Shift_Del_p.Q145fs|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Frame_Shift_Del_p.Q145fs	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	145					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAAACTTTTTGGAGAGAATGA	0.383									Gonadal Dysgenesis, 46 XX				83	460	---	---	---	---					
USP39	10713	broad.mit.edu	37	2	85863227	85863228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:85863227_85863228insG	ENST00000323701.6	+	7	1011_1012	c.1001_1002insG	c.(1000-1002)cggfs	p.R334fs	USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	334					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CACTCAGCTCTGGGGGGCACAA	0.416													7	686	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													7	690	---	---	---	---					
EIF5B	9669	broad.mit.edu	37	2	99993096	99993102	+	Splice_Site	DEL	TGAGGTA	TGAGGTA	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:99993096_99993102delTGAGGTA	ENST00000289371.5	+	10	2041_2044	c.1842_splice	c.e10+1	p.613_splice		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	613					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACGGAGGATTGAGGTATTTATTTTAC	0.362													29	404	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													7	402	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													8	488	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_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													9	445	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													18	416	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													8	211	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	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													14	940	---	---	---	---					
CTLA4	1493	broad.mit.edu	37	2	204736166	204736166	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:204736166delT	ENST00000302823.3	+	3	680	c.523delT	c.(523-525)ttfs	p.F176fs	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000295854.6_Intron|CTLA4_ENST00000472206.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	176					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TTCGGGGTTGTTTTTTTATAG	0.478													12	976	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													13	240	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													8	96	---	---	---	---					
EIF4E2	9470	broad.mit.edu	37	2	233431933	233431934	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:233431933_233431934insG	ENST00000409167.3	+	5	575_576	c.539_540insG	c.(538-540)tggfs	p.W180fs	EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000258416.3_Intron|EIF4E2_ENST00000409098.1_Intron|EIF4E2_ENST00000409495.1_Frame_Shift_Ins_p.W225fs|EIF4E2_ENST00000409514.1_Intron|EIF4E2_ENST00000409394.1_Intron			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	0					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGTACGTGTTGGGGGGTTATG	0.515													9	570	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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				13	48	---	---	---	---					
COL8A1	1295	broad.mit.edu	37	3	99514533	99514534	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:99514533_99514534insC	ENST00000261037.3	+	5	2168_2169	c.1788_1789insC	c.(1786-1791)aaccccfs	p.NP596fs	COL8A1_ENST00000273342.4_Frame_Shift_Ins_p.NP596fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	596	Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGCGTGAAACCCCCCCATGC	0.614													10	149	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													8	653	---	---	---	---					
TMEM39A	55254	broad.mit.edu	37	3	119156615	119156616	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:119156615_119156616insG	ENST00000319172.5	-	6	1330_1331	c.910_911insC	c.(910-912)gtgfs	p.V304fs		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	304						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACAAAACACAGGGGGAGAAAT	0.396													7	599	---	---	---	---					
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)gggfs	p.G493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.460													11	750	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													14	370	---	---	---	---					
FGF12	2257	broad.mit.edu	37	3	192053255	192053256	+	Splice_Site	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:192053255_192053256insG	ENST00000454309.2	-	3	1136		c.e3-2		FGF12_ENST00000450716.1_Splice_Site|FGF12_ENST00000264730.3_Splice_Site|FGF12_ENST00000430714.1_Splice_Site|FGF12_ENST00000445105.1_Splice_Site	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAAGAGAGCTGGGGGGAGAAA	0.426													7	347	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15067857	15067858	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:15067857_15067858insT	ENST00000538197.1	+	12	2958_2959	c.2958_2959insT	c.(2956-2961)ccttttfs	p.PF986fs	CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	541					regulation of translation	cytoplasm	nucleotide binding|RNA binding	p.P541P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AATTTGCTCCCTTTTTTTGTGC	0.441													14	1395	---	---	---	---					
LGI2	55203	broad.mit.edu	37	4	25005320	25005321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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	433	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)cccfs	p.P224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													14	404	---	---	---	---					
TMPRSS11F	389208	broad.mit.edu	37	4	68919689	68919690	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:68919689_68919690insT	ENST00000356291.2	-	10	1313_1314	c.1254_1255insA	c.(1252-1257)aactggfs	p.NW418fs	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	418	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TAGACTCCAGGTTTTTTGGGAA	0.431													9	701	---	---	---	---					
AFM	173	broad.mit.edu	37	4	74347531	74347532	+	Frame_Shift_Ins	INS	-	-	T	rs145217978	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:74347531_74347532insT	ENST00000226355.3	+	1	132_133	c.39_40insT	c.(37-42)ttttttfs	p.FF13fs		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	13					vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTTTTCTTGTTTTTTTTGAC	0.312													8	206	---	---	---	---					
CDKL2	8999	broad.mit.edu	37	4	76539580	76539580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:76539580delT	ENST00000429927.2	-	3	925	c.222delA	c.(220-222)aafs	p.K74fs	CDKL2_ENST00000307465.4_Frame_Shift_Del_p.K74fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	74	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGTACCATCGTTTTTTTTTCT	0.323													7	227	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													7	112	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599													12	473	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													10	478	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110756541	110756541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:110756541delT	ENST00000317735.4	+	3	351	c.317delT	c.(316-318)atfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGATTGAATATTTTTTTTGGA	0.393													10	911	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													8	145	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													8	377	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153244155	153244156	+	Frame_Shift_Ins	INS	-	-	C	rs7679116		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:153244155_153244156insC	ENST00000281708.4	-	12	3230_3231	c.2001_2002insG	c.(1999-2004)gggtggfs	p.W668fs	FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.W492fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.W668fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.W550fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.W588fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	668			S -> G (in dbSNP:rs7679116).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCCCCACTCCCCCCACTCT	0.485			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								7	314	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													10	283	---	---	---	---					
DROSHA	29102	broad.mit.edu	37	5	31521249	31521250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:31521249_31521250insT	ENST00000511367.2	-	5	1171_1172	c.927_928insA	c.(925-930)aaagtafs	p.V310fs	DROSHA_ENST00000344624.3_Frame_Shift_Ins_p.V310fs|DROSHA_ENST00000442743.1_Frame_Shift_Ins_p.V310fs|DROSHA_ENST00000513349.1_Frame_Shift_Ins_p.V310fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	310	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTCTTATACTCTTTTTTGTAGG	0.426													7	1238	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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	154	---	---	---	---					
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													8	887	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33881300	33881301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:33881300_33881301insG	ENST00000504830.1	-	2	747_748	c.412_413insC	c.(412-414)ctgfs	p.L138fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.L138fs|ADAMTS12_ENST00000515401.1_Frame_Shift_Ins_p.L138fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	138					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L138I(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGATGGCAGAGGGGGGCAGAG	0.540										HNSCC(64;0.19)			7	359	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													22	1000	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	36986119	36986120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:36986119_36986120insG	ENST00000282516.8	+	10	3336_3337	c.2837_2838insG	c.(2836-2838)tggfs	p.W946fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.W946fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	946					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGTTATTTGTTGGGGGGCAGGT	0.391													12	362	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													7	576	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													13	282	---	---	---	---					
SREK1IP1	285672	broad.mit.edu	37	5	64023980	64023981	+	Frame_Shift_Del	DEL	TC	TC	-	rs275819	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:64023980_64023981delTC	ENST00000513458.4	-	4	398_399	c.231_232delGA	c.(229-234)aaaafs	p.KK77fs		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	77	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						cttttttctttcttcttttcct	0.282													2	4	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													10	274	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													7	136	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													9	377	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|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													12	522	---	---	---	---					
KIAA0319	9856	broad.mit.edu	37	6	24601319	24601320	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:24601319_24601320insG	ENST00000378214.3	-	2	536_537	c.12_13insC	c.(10-15)cccaggfs	p.R5fs	KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000535378.1_5'UTR	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	5					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCACACCTGTGGGGGGCGCCA	0.525													15	580	---	---	---	---					
OR5V1	81696	broad.mit.edu	37	6	29323424	29323425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:29323424_29323425insG	ENST00000377154.1	-	4	847_848	c.548_549insC	c.(547-549)cttfs	p.L183fs	OR5V1_ENST00000543825.1_Frame_Shift_Ins_p.L183fs			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183H(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATCAGCAAAGGGGGGATGTC	0.455													13	1285	---	---	---	---					
RNF39	80352	broad.mit.edu	37	6	30040951	30040952	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:30040951_30040952insT	ENST00000244360.6	-	3	761_762	c.664_665insA	c.(664-666)gctfs	p.A222fs	RNF39_ENST00000376751.3_Frame_Shift_Ins_p.A222fs	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	222	B30.2/SPRY.					cytoplasm	zinc ion binding										TCTATGAAGCATTTTTTTGACC	0.411													8	904	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCCCTAGGGCAGGGGGGGCCCA	0.569													8	230	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													22	1323	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					30	544	---	---	---	---					
MAN1A1	4121	broad.mit.edu	37	6	119510935	119510936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:119510935_119510936insC	ENST00000368468.3	-	10	1880_1881	c.1439_1440insG	c.(1438-1440)gatfs	p.D480fs		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	480					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GTGCGAACATGCCCCCCGCGAA	0.554													7	299	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													22	621	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129419357	129419358	+	Frame_Shift_Ins	INS	-	-	C	rs143680577	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:129419357_129419358insC	ENST00000421865.2	+	4	485_486	c.436_437insC	c.(436-438)cccfs	p.P146fs		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	146	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGCAGCTAACTCCCCCCGGCCT	0.446													7	200	---	---	---	---					
ENPP3	5169	broad.mit.edu	37	6	132006590	132006591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:132006590_132006591insC	ENST00000414305.1	+	14	1535_1536	c.1207_1208insC	c.(1207-1209)cccfs	p.P403fs	ENPP3_ENST00000357639.3_Frame_Shift_Ins_p.P403fs|ENPP3_ENST00000358229.5_Frame_Shift_Ins_p.P403fs			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	403	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CGAAGGGCCTGCCCCCCGCATC	0.361													7	414	---	---	---	---					
AHI1	54806	broad.mit.edu	37	6	135784283	135784284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:135784283_135784284insT	ENST00000367800.4	-	6	1126_1127	c.910_911insA	c.(910-912)aaafs	p.K304fs	AHI1_ENST00000327035.6_Frame_Shift_Ins_p.K304fs|AHI1_ENST00000457866.2_Frame_Shift_Ins_p.K304fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	304						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTCTTTTTTGTTTTTTTTGGT	0.307													10	225	---	---	---	---					
UST	10090	broad.mit.edu	37	6	149395141	149395142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr6:149395141_149395142insC	ENST00000367463.4	+	8	1213_1214	c.1110_1111insC	c.(1108-1113)aaccccfs	p.NP370fs	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	370					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACGTCAGCAAGCCCCCCCTGAG	0.490													13	333	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													8	502	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													9	953	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480091	73480092	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:73480091_73480092insG	ENST00000523207.1	+	2	710_711	c.122_123insG	c.(121-123)gggfs	p.G41fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTCA	0.564													9	414	---	---	---	---					
ZNF704	619279	broad.mit.edu	37	8	81733778	81733778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr8:81733778delT	ENST00000327835.3	-	2	283	c.52delA	c.(52-54)tgfs	p.M18fs		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGATGAGACATTTTTTTACCA	0.423													10	1307	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971057	21971058	+	Frame_Shift_Ins	INS	-	-	A	rs104894094		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:21971057_21971058insA	ENST00000579755.1	-	2	635_636	c.343_344insT	c.(343-345)gggfs	p.G115fs	CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.AG100fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G156fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G115fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.AG49fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	131					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCCGCGCCCCGGCCCGGTGCA	0.752		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	8	---	---	---	---					
SPATA31A1	647060	broad.mit.edu	37	9	39361117	39361117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:39361117delG	ENST00000377647.3	+	4	3384	c.3355delG	c.(3355-3357)aafs	p.E1119fs		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1																		GCCCAACTTAGAAAAACATGA	0.488													56	169	---	---	---	---					
DAPK1	1612	broad.mit.edu	37	9	90321801	90321802	+	Frame_Shift_Ins	INS	-	-	G	rs56169226		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:90321801_90321802insG	ENST00000469640.2	+	27	4265_4266	c.3890_3891insG	c.(3889-3891)aggfs	p.R1297fs	DAPK1_ENST00000408954.3_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.R1206fs|DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.R1272fs			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1272					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.Y1276fs*31(1)|p.Y1275fs*31(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACCAACACCATGGGGGGGTACA	0.584									Chronic Lymphocytic Leukemia, Familial Clustering of				8	100	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													7	378	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													14	338	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													12	217	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													13	392	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													12	316	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)gaafs	p.E349fs	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401													7	619	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													12	233	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													11	720	---	---	---	---					
LGI1	9211	broad.mit.edu	37	10	95552601	95552602	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:95552601_95552602insC	ENST00000371418.4	+	6	865_866	c.605_606insC	c.(604-606)gccfs	p.A202fs	LGI1_ENST00000371413.3_Frame_Shift_Ins_p.A202fs|LGI1_ENST00000542308.1_Frame_Shift_Ins_p.A154fs	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	202	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.E205fs*9(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TACTGCGAAGGCCCCCCAGAAT	0.421													11	805	---	---	---	---					
ABCC2	1244	broad.mit.edu	37	10	101558978	101558979	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:101558978_101558979insA	ENST00000370449.4	+	8	995_996	c.882_883insA	c.(880-885)aaaaaafs	p.KK294fs		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	294						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.K294N(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ATGTTGAAAAGAAAAAAAAGAA	0.441													7	342	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													10	718	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													10	271	---	---	---	---					
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													17	1708	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													8	697	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													10	1292	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													10	266	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													10	358	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs	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	206	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													23	1570	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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	1518	---	---	---	---					
PRDM10	56980	broad.mit.edu	37	11	129827737	129827738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:129827737_129827738insG	ENST00000358825.5	-	3	368_369	c.137_138insC	c.(136-138)ccafs	p.P46fs	PRDM10_ENST00000360871.3_Frame_Shift_Ins_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Ins_p.P46fs	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCACCTGCTGTGGGGGGCGAAC	0.545													9	636	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													17	1245	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													19	259	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	442810	442811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:442810_442811insC	ENST00000399788.2	-	12	1857_1858	c.1495_1496insG	c.(1495-1497)gccfs	p.A499fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.A499fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	499	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGTCTTTGGCTCCCCCCTAGCA	0.465			T	NUP98	AML								7	786	---	---	---	---					
TAS2R31	259290	broad.mit.edu	37	12	11183906	11183907	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:11183906_11183907insA	ENST00000390675.2	-	1	99_100	c.28_29insT	c.(28-30)cagfs	p.Q10fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TACCACACTGGAAAAAATGATG	0.381													32	166	---	---	---	---					
DDX47	51202	broad.mit.edu	37	12	12974637	12974638	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:12974637_12974638insA	ENST00000358007.3	+	4	441_442	c.419_420insA	c.(418-420)gaafs	p.E140fs	DDX47_ENST00000352940.4_Frame_Shift_Ins_p.E140fs|RP11-59H1.3_ENST00000534843.1_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	140	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTGGCCCTTGCAAAAAAACCAC	0.361													8	399	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													10	1343	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26568291	26568292	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:26568291_26568292insA	ENST00000381340.3	-	51	7666_7667	c.7250_7251insT	c.(7249-7251)taafs	p.*2417fs	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2417					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTCATCCTTCAAAAAAAGGAA	0.411													8	400	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													7	196	---	---	---	---					
TROAP	10024	broad.mit.edu	37	12	49725380	49725381	+	Frame_Shift_Ins	INS	-	-	C	rs78835037		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:49725380_49725381insC	ENST00000551245.1	+	14	2698_2699	c.2587_2588insC	c.(2587-2589)cccfs	p.P863fs	TROAP_ENST00000547923.1_Frame_Shift_Ins_p.P452fs|TROAP_ENST00000257909.3_Frame_Shift_Ins_p.P773fs			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGGTTCTGCTGCCCCCCAGGGC	0.550											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	267	---	---	---	---					
DCD	117159	broad.mit.edu	37	12	55039009	55039010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:55039009_55039010insC	ENST00000456047.2	-	4	425_426	c.236_237insG	c.(235-237)gctfs	p.A79fs	DCD_ENST00000293371.6_Frame_Shift_Ins_p.A79fs			P81605	DCD_HUMAN	dermcidin	79					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GTTTTCCGAGTCCCCCCACAGC	0.480													9	573	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													11	349	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													14	907	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs	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													7	118	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													16	412	---	---	---	---					
E2F7	144455	broad.mit.edu	37	12	77419716	77419717	+	Frame_Shift_Ins	INS	-	-	G	rs36042830		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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	192	---	---	---	---					
TMCC3	57458	broad.mit.edu	37	12	94975857	94975858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:94975857_94975858insG	ENST00000261226.4	-	2	666_667	c.535_536insC	c.(535-537)ttgfs	p.L179fs	TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	179						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCATGCAATGGGGGGCAGTT	0.495													8	344	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													22	430	---	---	---	---					
MYBPC1	4604	broad.mit.edu	37	12	102057273	102057274	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:102057273_102057274insC	ENST00000549145.1	+	21	2355_2356	c.2255_2256insC	c.(2254-2256)cccfs	p.P752fs	MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.P713fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.P725fs|MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.P727fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.P640fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.P720fs|MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.P726fs|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.P764fs			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	739	Fibronectin type-III 2.			Y -> H (in Ref. 3; CAD38925).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGAGGTGGCGCCCCCCAGACC	0.436													8	479	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													8	1021	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs	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	131	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													7	347	---	---	---	---					
MYCBP2	23077	broad.mit.edu	37	13	77641916	77641917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:77641916_77641917insG	ENST00000407578.2	-	71	12520_12521	c.12254_12255insC	c.(12253-12255)cgcfs	p.R4085fs	MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.R4047fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.R4047fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGGA	0.436													9	643	---	---	---	---					
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aafs	p.K917fs	BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	185	---	---	---	---					
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:21884031delT	ENST00000399982.2	-	5	1816	c.1752delA	c.(1750-1752)aafs	p.K584fs	CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398													9	456	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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	130	---	---	---	---					
OR4E2	26686	broad.mit.edu	37	14	22133745	22133746	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:22133745_22133746insG	ENST00000408935.1	+	1	449_450	c.449_450insG	c.(448-450)tggfs	p.W150fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCTCTCTGGTTGGGGGGTACTG	0.480													10	571	---	---	---	---					
AKAP6	9472	broad.mit.edu	37	14	32902724	32902725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:32902724_32902725insC	ENST00000280979.4	+	2	195_196	c.25_26insC	c.(25-27)cccfs	p.P9fs	AKAP6_ENST00000557354.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000557272.1_Frame_Shift_Ins_p.P9fs|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	9					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGTGACACTTTCCCCCCTGAGG	0.505													7	583	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36190899	36190900	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:36190899_36190900insT	ENST00000258840.6	-	16	2650_2651	c.2260_2261insA	c.(2260-2262)tgtfs	p.C754fs	RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.C754fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.C754fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.C754fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	754					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATACCGACAGTTTTTTGCCGT	0.426													9	2417	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36226074	36226075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:36226074_36226075insG	ENST00000258840.6	-	7	977_978	c.587_588insC	c.(586-588)ccafs	p.P196fs	RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.P196fs|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.P196fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	196					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGATTGTGGGGGGACAAG	0.317													11	2161	---	---	---	---					
CTAGE5	4253	broad.mit.edu	37	14	39818089	39818090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:39818089_39818090insC	ENST00000553728.1	+	27	3974_3975	c.3761_3762insC	c.(3760-3762)tccfs	p.S1254fs	CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.S719fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.S690fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.S676fs|CTAGE5_ENST00000557038.1_Frame_Shift_Ins_p.S639fs|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.S690fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.S724fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.S719fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.S690fs|CTAGE5_ENST00000556148.1_Frame_Shift_Ins_p.S644fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.S707fs																							GGACCTCCTTTCCCCCCACCTC	0.535													9	1439	---	---	---	---					
C14orf28	122525	broad.mit.edu	37	14	45369723	45369724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:45369723_45369724insG	ENST00000325192.3	+	2	360_361	c.85_86insG	c.(85-87)gggfs	p.G29fs	C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376													7	167	---	---	---	---					
ABHD12B	145447	broad.mit.edu	37	14	51347189	51347190	+	Frame_Shift_Ins	INS	-	-	G	rs141865189		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:51347189_51347190insG	ENST00000337334.2	+	4	370_371	c.355_356insG	c.(355-357)gggfs	p.G119fs	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	119							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CCCCAGCTGCCGGGGGGAAGAT	0.490													16	946	---	---	---	---					
NID2	22795	broad.mit.edu	37	14	52481918	52481919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:52481918_52481919insG	ENST00000216286.5	-	15	3102_3103	c.3103_3104insC	c.(3103-3105)ggafs	p.G1035fs	NID2_ENST00000541773.1_Frame_Shift_Ins_p.G934fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCCA	0.624													7	555	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													32	39	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													34	1015	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9457-9462)ctccccfs	p.LP3153fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564													8	566	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54630575	54630576	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:54630575_54630576insC	ENST00000545554.1	+	16	4601_4602	c.4601_4602insC	c.(4600-4602)accfs	p.T1534fs	UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.T1534fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.T1532fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTGCAAAGCCCCCCAAAAG	0.401													7	921	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													7	137	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4219-4224)ccccccfs	p.PP1407fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1407						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.470											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	694	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267																											CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578													5	2	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16177395	16177397	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:16177395_16177397delAGA	ENST00000399408.2	+	17	2463_2465	c.2288_2290delAGA	c.(2287-2292)gag>g	p.EK763del	ABCC1_ENST00000399410.3_In_Frame_Del_p.EK763del|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000345148.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000346370.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000351154.5_Intron			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	763	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGATTGGCGAGAAGGTCAGTAT	0.542													16	175	---	---	---	---					
HS3ST2	9956	broad.mit.edu	37	16	22926721	22926722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:22926721_22926722insA	ENST00000261374.3	+	2	1376_1377	c.942_943insA	c.(940-945)ttaaaafs	p.LK314fs		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	314						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCCCTTGCTTGAAAAAAACAGA	0.485													12	814	---	---	---	---					
ITGAM	3684	broad.mit.edu	37	16	31308913	31308914	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:31308913_31308914insC	ENST00000544665.3	+	13	1506_1507	c.1435_1436insC	c.(1435-1437)cccfs	p.P479fs	ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.P479fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	479					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCTCATCGGGGCCCCCCATTAC	0.673													12	783	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)gggfs	p.G498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629													8	779	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													10	411	---	---	---	---					
GLG1	2734	broad.mit.edu	37	16	74525008	74525009	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													9	303	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													18	412	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:27001303_27001305delGAG	ENST00000314616.6	+	3	395_397	c.112_114delGAG	c.(112-114)del	p.E43del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													9	298	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs|RP11-68I3.2_ENST00000581474.1_RNA	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													9	267	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													8	267	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													10	1310	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													8	285	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													21	1519	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGGGAGAGGGGGGGATAT	0.530													7	273	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275653	16275654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:16275653_16275654insC	ENST00000269878.4	-	5	466_467	c.417_418insG	c.(415-420)ggtgagfs	p.E140fs	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.E91fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	140							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGGCACTCAGCCCCCCCCGCG	0.564													7	205	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17081702	17081703	+	Splice_Site	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:17081702_17081703insG	ENST00000443236.1	-	18	2383_2384	c.2354_splice	c.e18+1	p.N785_splice	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	738						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			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						AGCCGTTACCTGGGGGGGTGCC	0.569													8	47	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													14	439	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325193	40325193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:40325193delG	ENST00000221801.3	-	9	1064	c.951delC	c.(949-951)ccfs	p.P317fs	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	317					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCTTCACCTTGGGGGGTGGCC	0.507													7	314	---	---	---	---					
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:46663998_46663999insC	ENST00000434646.2	+	4	525_526	c.234_235insC	c.(232-237)ggccccfs	p.GP78fs	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	67						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCAATGTGGTCCCCCCTGCAC	0.554													8	1219	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs	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													20	461	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													10	230	---	---	---	---					
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)cccfs	p.P353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525													10	193	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													8	220	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													15	315	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													11	99	---	---	---	---					
RPRD1B	58490	broad.mit.edu	37	20	36718236	36718237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:36718236_36718237insC	ENST00000373433.4	+	7	1342_1343	c.940_941insC	c.(940-942)cccfs	p.P314fs	RPRD1B_ENST00000471511.1_3'UTR	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	314										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AGGGGGCTTAGCCCCCCTGCCC	0.540													7	823	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													12	248	---	---	---	---					
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:57478756_57478757insC	ENST00000371100.4	+	5	2823_2824	c.2271_2272insC	c.(2269-2274)gtccccfs	p.VP757fs	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	114					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			10	526	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)tgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323													13	317	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													10	780	---	---	---	---					
SEZ6L	23544	broad.mit.edu	37	22	26688775	26688776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:26688775_26688776insC	ENST00000529632.2	+	2	694_695	c.498_499insC	c.(496-501)cccgggfs	p.G167fs	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.G167fs|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.G167fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.G167fs|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.G167fs	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	167						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGCCTGGCCCACCGGGGGACCC	0.678													7	162	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:37499435_37499436insG	ENST00000381792.2	-	2	162_163	c.22_23insC	c.(22-24)ggtfs	p.G8fs	TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658													7	547	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													9	579	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													12	482	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													13	117	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													9	155	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	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													14	544	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	087484e8-dc3e-461a-be5f-4217b7c39732	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													8	710	---	---	---	---					
C1orf168	199920	broad.mit.edu	37	1	57219538	57219538	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:57219538delC	ENST00000343433.6	-	8	1281	c.1201delG	c.(1201-1203)aafs	p.E401fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	401										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						GAATATGGTTCCTTTTCTGTG	0.353													13	61	---	---	---	---					
LOC100130331	100130331	broad.mit.edu	37	1	238090207	238090207	+	RNA	DEL	C	C	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr1:238090207delC	ENST00000450451.1	+	0	1713					NR_027247.2																						GGGGACGATGCCCCCCAAGCT	0.602													11	12	---	---	---	---					
FSHR	2492	broad.mit.edu	37	2	49217718	49217718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:49217718delG	ENST00000406846.2	-	5	552	c.433delC	c.(433-435)aafs	p.Q145fs	FSHR_ENST00000346173.3_Frame_Shift_Del_p.Q145fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.Q145fs|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	145					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAAACTTTTTGGAGAGAATGA	0.383									Gonadal Dysgenesis, 46 XX				23	107	---	---	---	---					
EIF5B	9669	broad.mit.edu	37	2	99993096	99993102	+	Splice_Site	DEL	TGAGGTA	TGAGGTA	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr2:99993096_99993102delTGAGGTA	ENST00000289371.5	+	10	2041_2044	c.1842_splice	c.e10+1	p.613_splice		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	613					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACGGAGGATTGAGGTATTTATTTTAC	0.362													15	129	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													2	4	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971057	21971058	+	Frame_Shift_Ins	INS	-	-	A	rs104894094		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:21971057_21971058insA	ENST00000579755.1	-	2	635_636	c.343_344insT	c.(343-345)gggfs	p.G115fs	CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G115fs|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.AG100fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G156fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.AG49fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	131					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCCGCGCCCCGGCCCGGTGCA	0.752		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			20	22	---	---	---	---					
SPATA31A1	647060	broad.mit.edu	37	9	39361117	39361117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr9:39361117delG	ENST00000377647.3	+	4	3384	c.3355delG	c.(3355-3357)aafs	p.E1119fs		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1																		GCCCAACTTAGAAAAACATGA	0.488													61	205	---	---	---	---					
SAA3P	6290	broad.mit.edu	37	11	18136968	18136969	+	RNA	DEL	TA	TA	-	rs71047573		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:18136968_18136969delTA	ENST00000534768.1	-	0	147					NR_026576.1															lung(2)	2						gtgtgtgtgttagtgtgtgtgt	0.421											OREG0020820	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
RP11-702H23.4	0	broad.mit.edu	37	11	74140644	74140645	+	RNA	INS	-	-	C	rs59029456		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr11:74140644_74140645insC	ENST00000533008.1	+	0	154																											cttccttccttccttccttcct	0.446													2	4	---	---	---	---					
TAS2R31	259290	broad.mit.edu	37	12	11183906	11183907	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr12:11183906_11183907insA	ENST00000390675.2	-	1	99_100	c.28_29insT	c.(28-30)cagfs	p.Q10fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TACCACACTGGAAAAAATGATG	0.381													11	71	---	---	---	---					
RP11-116N8.1	0	broad.mit.edu	37	14	36463290	36463291	+	RNA	INS	-	-	TCCT	rs71124732		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr14:36463290_36463291insTCCT	ENST00000550089.1	+	0	242																											GACCATATTTAtccttccttcc	0.366													8	5	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16177395	16177397	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:16177395_16177397delAGA	ENST00000399408.2	+	17	2463_2465	c.2288_2290delAGA	c.(2287-2292)gag>g	p.EK763del	ABCC1_ENST00000399410.3_In_Frame_Del_p.EK763del|ABCC1_ENST00000346370.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000345148.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000351154.5_Intron			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	763	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGATTGGCGAGAAGGTCAGTAT	0.542													27	222	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	087484e8-dc3e-461a-be5f-4217b7c39732	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418													3	6	---	---	---	---					
MROH9	80133	broad.mit.edu	37	1	170940907	170940907	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:170940907delT	ENST00000367759.4	+	8	653	c.499delT	c.(499-501)gtfs	p.C167fs	MROH9_ENST00000367758.3_Frame_Shift_Del_p.C167fs	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TGATGCTCCATGTTTGGGTCT	0.418													7	1530	---	---	---	---					
RP11-644C3.1	0	broad.mit.edu	37	3	176561925	176561925	+	RNA	DEL	G	G	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:176561925delG	ENST00000428516.1	-	0	198																											agagggaggaggagaagAAAA	0.483													2	4	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													4	4	---	---	---	---					
SPON2	10417	broad.mit.edu	37	4	1164242	1164243	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:1164242_1164243insG	ENST00000290902.5	-	5	1090_1091	c.758_759insC	c.(757-759)cccfs	p.P253fs	SPON2_ENST00000431380.1_Frame_Shift_Ins_p.P253fs	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	253					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTGGGGCGGGAGGGATGAAGGC	0.644													42	67	---	---	---	---					
RP11-445O3.2	0	broad.mit.edu	37	5	4490949	4490950	+	RNA	DEL	GT	GT	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:4490949_4490950delGT	ENST00000507435.1	-	0	532																											GTTGCCCAAGGTGTGTGTGTGT	0.460													2	4	---	---	---	---					
SREK1IP1	285672	broad.mit.edu	37	5	64023980	64023981	+	Frame_Shift_Del	DEL	TC	TC	-	rs275819	byFrequency	TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:64023980_64023981delTC	ENST00000513458.4	-	4	398_399	c.231_232delGA	c.(229-234)aaaafs	p.KK77fs		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	77	Lys-rich.				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						cttttttctttcttcttttcct	0.282													2	4	---	---	---	---					
AC009784.3	0	broad.mit.edu	37	7	136005675	136005675	+	RNA	DEL	G	G	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr7:136005675delG	ENST00000445293.2	+	0	614																											gtaggtggctggggagcatgc	0.557													2	4	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971057	21971058	+	Frame_Shift_Ins	INS	-	-	A	rs104894094		TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:21971057_21971058insA	ENST00000579755.1	-	2	635_636	c.343_344insT	c.(343-345)gggfs	p.G115fs	CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.AG100fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G115fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G156fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.AG49fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	131					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCCGCGCCCCGGCCCGGTGCA	0.752		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	8	---	---	---	---					
TAS2R31	259290	broad.mit.edu	37	12	11183906	11183907	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:11183906_11183907insA	ENST00000390675.2	-	1	99_100	c.28_29insT	c.(28-30)cagfs	p.Q10fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TACCACACTGGAAAAAATGATG	0.381													32	166	---	---	---	---					
RALGAPA1	253959	broad.mit.edu	37	14	36190899	36190900	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:36190899_36190900insT	ENST00000258840.6	-	16	2650_2651	c.2260_2261insA	c.(2260-2262)tgtfs	p.C754fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.C754fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.C754fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.C754fs			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	754					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATACCGACAGTTTTTTGCCGT	0.426													9	2417	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16177395	16177397	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:16177395_16177397delAGA	ENST00000399408.2	+	17	2463_2465	c.2288_2290delAGA	c.(2287-2292)gag>g	p.EK763del	ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000346370.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000345148.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000399410.3_In_Frame_Del_p.EK763del			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	763	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGATTGGCGAGAAGGTCAGTAT	0.542													16	175	---	---	---	---					
LIN7B	64130	broad.mit.edu	37	19	49619729	49619729	+	Splice_Site	DEL	G	G	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:49619729delG	ENST00000221459.2	+	4	482	c.438_splice	c.e4+1	p.V146_splice	LIN7B_ENST00000391864.3_Intron	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	146	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		TGAACGGTGTGGTGAGTGGAG	0.567													26	46	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11064722	11064722	+	RNA	DEL	A	A	-			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:11064722delA	ENST00000470054.1	-	0	324									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)		gccaataggcagtaagaaaat	0.488													3	3	---	---	---	---					
MIATNB	102724827	broad.mit.edu	37	22	27073779	27073780	+	RNA	INS	-	-	A			TCGA-55-1594-01A-01W-0928-08	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffccc614-e453-4244-9cc5-8058fafc2bde	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr22:27073779_27073780insA	ENST00000437071.1	+	0	183																											GGGGTGAGGGtgggggcagtaa	0.500													2	4	---	---	---	---					
TMEM234	56063	broad.mit.edu	37	1	32682734	32682735	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr1:32682734_32682735insA	ENST00000373593.1	-	4	473_474	c.453_454insT	c.(451-456)ttctctfs	p.S152fs	TMEM234_ENST00000545122.1_Intron|TMEM234_ENST00000344461.3_Intron|TMEM234_ENST00000485689.1_Intron|TMEM234_ENST00000309777.6_Intron			Q8WY98	TM234_HUMAN	transmembrane protein 234	0						integral to membrane				kidney(2)|lung(3)	5						AGCTGCAGAGGAAAGGGCAGGA	0.559													20	18	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	RNA	DEL	T	T	-	rs2005502	by1000genomes	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244													6	1	---	---	---	---					
AC012668.1	0	broad.mit.edu	37	2	216402778	216402778	+	RNA	DEL	C	C	-	rs67477248		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr2:216402778delC	ENST00000431727.2	-	0	235																											ttccttccttccttccttcct	0.418													4	7	---	---	---	---					
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													6	10	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													15	21	---	---	---	---					
SPON2	10417	broad.mit.edu	37	4	1164242	1164243	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:1164242_1164243insG	ENST00000290902.5	-	5	1090_1091	c.758_759insC	c.(757-759)cccfs	p.P253fs	SPON2_ENST00000431380.1_Frame_Shift_Ins_p.P253fs	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	253					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTGGGGCGGGAGGGATGAAGGC	0.644													175	237	---	---	---	---					
FGFR3	2261	broad.mit.edu	37	4	1807542	1807543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr4:1807542_1807543insG	ENST00000340107.4	+	13	1973_1974	c.1717_1718insG	c.(1717-1719)gccfs	p.A573fs	FGFR3_ENST00000260795.2_Frame_Shift_Ins_p.A571fs|FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.A572fs|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.A571fs|FGFR3_ENST00000412135.2_Frame_Shift_Ins_p.A459fs|FGFR3_ENST00000352904.1_Frame_Shift_Ins_p.A459fs	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	571	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	gcgggcgcggcggcccccgggc	0.703		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				41	229	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:137680780_137680781insG	ENST00000239906.5	+	4	831_832	c.403_404insG	c.(403-405)gccfs	p.A135fs	FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.A135fs|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683													11	189	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													4	8	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													9	282	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971057	21971058	+	Frame_Shift_Ins	INS	-	-	A	rs104894094		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:21971057_21971058insA	ENST00000579755.1	-	2	635_636	c.343_344insT	c.(343-345)gggfs	p.G115fs	CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.G156fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.AG100fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.AG49fs|CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.G115fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.AG100fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.AG100fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	131					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.G101W(1)|p.A102fs*42(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCCGCGCCCCGGCCCGGTGCA	0.752		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			20	22	---	---	---	---					
SPATA31A2	642265	broad.mit.edu	37	9	39890368	39890368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr9:39890368delG	ENST00000456183.2	+	4	3384	c.3355delG	c.(3355-3357)aafs	p.E1119fs		NM_001040065.1	NP_001035154.1			SPATA31 subfamily A, member 2																		GCCCAACTTAGAAAAACATGA	0.493													7	24	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													10	38	---	---	---	---					
TAS2R31	259290	broad.mit.edu	37	12	11183906	11183907	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr12:11183906_11183907insA	ENST00000390675.2	-	1	99_100	c.28_29insT	c.(28-30)cagfs	p.Q10fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TACCACACTGGAAAAAATGATG	0.381													11	71	---	---	---	---					
MGAT2	4247	broad.mit.edu	37	14	50088316	50088317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr14:50088316_50088317insG	ENST00000305386.2	+	1	828_829	c.330_331insG	c.(328-333)gcgcacfs	p.H111fs	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	111					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TAGATAAGGCTGGCACCTGGGC	0.624													8	1643	---	---	---	---					
LOC102723640	102723640	broad.mit.edu	37	15	72904450	72904451	+	RNA	DEL	AG	AG	-	rs80275855		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:72904450_72904451delAG	ENST00000565305.1	-	0	172																											aaaaaaaaaaagaaCAGCAGCT	0.421													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292783	102292786	+	RNA	DEL	CTCA	CTCA	-	rs61084368		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr15:102292783_102292786delCTCA	ENST00000561463.1	+	0	829_832																		p.Q125E(1)									GATGCTGCTTCTCAGAGCTGCTGT	0.603													12	35	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													13	385	---	---	---	---					
ABCC1	4363	broad.mit.edu	37	16	16177395	16177397	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:16177395_16177397delAGA	ENST00000399408.2	+	17	2463_2465	c.2288_2290delAGA	c.(2287-2292)gag>g	p.EK763del	ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000399410.3_In_Frame_Del_p.EK763del|ABCC1_ENST00000345148.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000346370.5_In_Frame_Del_p.EK763del|ABCC1_ENST00000349029.5_Intron			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	763	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAGATTGGCGAGAAGGTCAGTAT	0.542													27	222	---	---	---	---					
FBXO31	79791	broad.mit.edu	37	16	87367559	87367560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr16:87367559_87367560insC	ENST00000311635.7	-	8	1341_1342	c.1329_1330insG	c.(1327-1332)ggagccfs	p.A444fs	RP11-178L8.4_ENST00000568879.1_Frame_Shift_Ins_p.E107fs	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	444					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ACGAACGGCTGCCCCTGCCCAC	0.678													8	130	---	---	---	---					
RP11-161I6.2	0	broad.mit.edu	37	18	2089466	2089466	+	RNA	DEL	A	A	-	rs58767171		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr18:2089466delA	ENST00000579097.1	-	0	310																											CTGCCCCCCCACCCACTCACC	0.527													6	1	---	---	---	---					
CYP4F8	11283	broad.mit.edu	37	19	15726721	15726722	+	RNA	INS	-	-	ACTCACTCATTCCTCTGATC	rs148338083	by1000genomes	TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:15726721_15726722insACTCACTCATTCCTCTGATC	ENST00000441682.2	+	0	262							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACGGCAGAGAAactcactcatt	0.559													5	10	---	---	---	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)del	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													9	462	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	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													14	327	---	---	---	---					
LIN7B	64130	broad.mit.edu	37	19	49619729	49619729	+	Splice_Site	DEL	G	G	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr19:49619729delG	ENST00000221459.2	+	4	482	c.438_splice	c.e4+1	p.V146_splice	LIN7B_ENST00000391864.3_Intron	NM_022165.2	NP_071448.1	Q9HAP6	LIN7B_HUMAN	lin-7 homolog B (C. elegans)	146	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein domain specific binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01)		TGAACGGTGTGGTGAGTGGAG	0.567													48	88	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11059163	11059163	+	RNA	DEL	G	G	-	rs141258961		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:11059163delG	ENST00000470054.1	-	0	324									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)		ATCTCTCTGTGGGAAATGACT	0.368													8	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11064722	11064722	+	RNA	DEL	A	A	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:11064722delA	ENST00000470054.1	-	0	324									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)		gccaataggcagtaagaaaat	0.488													5	10	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11071401	11071402	+	RNA	INS	-	-	A	rs142400815		TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr21:11071401_11071402insA	ENST00000470054.1	-	0	324									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)		aggctaccaagaaaaaaaaact	0.411													3	3	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-55-1594-01A-01D-1040-01	TCGA-55-1594-11A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88620207-646f-49ec-bb4f-7e8fd22e77ae	2ed62e6d-7bd6-4803-9a6c-e949a2a19739	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcc>g	p.AS587del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	587					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596													7	496	---	---	---	---					
